Paediatrics Flashcards

Question

Causes of pneumonia in children

Answer 1

- Newborn – group B strep Infants and young children Viral - RSV (Respiratory syncytial virus) - Parainfluenza virus - Influenza virus Bacterial - Streptococcus pneumonia, most common in > 5 years - Haemophilus influenzae - Mycoplasma pneumoniae (atypical with extrapulmonary e.g. erythema multiforme) CF patients - Staph aureus - Pseudomonas aeruginosa

Answer 2

Derangement in basic obs can indicate sepsis secondary to pneumonia - Tachypnoea (raised respiratory rate) - Tachycardia (raised heart rate) - Hypoxia (low oxygen) - Hypotension (shock) - Fever - Confusion

Answer 3

- CXR is gold standard (not routinely required but helpful when doubt or severe) To find causative agent: - Sputum culture - Throat swabs for bacterial cultures - Viral PCR If sepsis suspected: - Blood cultures - Capillary blood gas to monitor lactate, and resp or metabolic acidosis

Answer 4

- Abx according to local guidelines - 1st line: usually amoxicillin +/- macrolide e.g. clarithromycin to cover atypical pneumonia or if penicilin allergy - Co-amoclav if concurrent influenza or CF for S.aureus - IV abx if sepsis - O2 used to keep sats > 92% (15L 100%)

Answer 5

- An autosomal recessive condition that is caused by a defective protein called CF transmembrane conductance regulator (CFTR), a cyclic AMP-dependent chloride channel in cell membranes. - Gene on chromosome 7. - Most common mutation in the UK (78%) is Δ (delta) F508

Answer 6

- 1 in 2500 live births - 1 in 25 carriers

Answer 7

The mutation means that there is abnormal transport of ions across the cell membranes of epithelial cells. **Key consequences** - Thick pancreatic and biliary secretions = blockage of the ducts = lack of digestive enzymes such as pancreatic lipase in GI tract - Thick airway secretions that reduce airway clearance, resulting in bacterial colonisation and susceptibility to airway infections - Congenital bilateral absence of the vas deferens in males. Patient has healthy sperm but cannot travel from testes to ejaculate = infertility

Answer 8

Newborn - Diagnosed through newborn screening (heel-prick) - Meconium ileus (meconium blocks ileum) Infancy/children - Prolonged neonatal jaundice - Failure to thrive - Recurrent chest infections - Malabsorption, steatorrhoea - Abdominal pain + bloating

Answer 9

- Low weight or height on growth charts - Nasal polyps - Finger clubbing - Crackles and wheezes on auscultation - Abdominal distension

Answer 10

Need to know for exams: - Newborn blood spot testing picks up most cases - The sweat test = gold standard for diagnosis Genetic testing for CFTR gene during pregnancy by amniocentesis, or newborn blood test

Answer 11

Remember this test! Gold standard for confirming diagnosis Pilocarpine is applied on patch of skin Electrodes placed either side of the skin, small currents run through and cause skin to sweat Lab-issued gauze/filter paper absorbs sweat and sent to lab for chloride conc testing. Diagnostic chloride concentration > 60mmol/l.

Answer 12

Patients struggle to clear the airway secretions = perfect moist, warm environment for bacteria Key colonisers for exams - Staphylococus aureus - Pseudomonas Treatment = long-term prophylactic flucloxacillin to prevent SA infection Pseudomonas (BAD GUY!) = hard to treat and worsens prognosis, treated with nebulised antibiotics (e.g., colistimethate or tobramycin) or oral ciprofloxacin

Answer 13

- Specialist MDT - Daily chest physio = clear mucus and reduces infection risk - Exercise improves respiratory function and reserve, and helps clear sputum - A high-calorie diet is required for malabsorption - CREON tablets for pancreatic insufficiency (replaces missing lipase enzymes) - Prophylactic flucloxacillin tablets - Treat chest infections - Bronchodilators such as salbutamol - Nebulised DNase (dornase alfa) = enzyme to make secretions less viscous and easier to clear - Nebulised hypertonic saline Vaccinations for pneumococcal, influenza and varicella

Answer 14

Managed and followed-up in specialist CF clinics, about every 6m Monitoring of sputum and bacterial colonisation e.g. pseudomona Also monitoring and screening for diabetes, osteoporosis, vitamin D deficiency and liver failure.

Answer 15

Prognosis depends on multiple factors, including severity of symptoms, type of genetic mutation, adherence to treatment, frequency of infection and lifestyle. Life expectancy improved to around 47yo - 90% develop pancreatic insufficiency - 50% of adults develop cystic fibrosis-related diabetes and need insulin - 30% develop liver disease

Answer 16

Inflammation and infection in the bronchioles, the small airways of the lungs. RSV - respiratory syncytial virus Common in < 1 year olds Most common < 6m Sometimes up to 2 years old, particularly ex-premature babies with chronic lung diseases

Answer 17

- Coryzal symptoms. = running or snotty nose, sneezing, mucus in throat and watery eyes. - Signs of respiratory distress - Dyspnoea - Tachypnoea - Poor feeding - Mild fever (under 39ºC) - Apnoeas - Wheeze and crackles on auscultation

Answer 18

Remember this very well, foundations of paeds to spot respiratory distress! - Raised respiratory rate - Use of accessory muscles of breathing, such as the sternocleidomastoid, abdominal and intercostal muscles - Intercostal and subcostal recessions - Nasal flaring - Head bobbing - Tracheal tugging - Cyanosis - Abnormal airway noises

Answer 19

- URTI with coryzal symptoms, 50% recover - 50% develop chest symptoms within 1 - 2 days - Symptoms worst on day 3 or 4. - Symptoms usually last 7 to 10 days - Full recovery within 2 - 3 weeks

Answer 20

Most infants can be managed at home with safety netting advice Reasons to admit: - < 3 months or pre-existing condition such as prematurity or CF - ≤ 50 – 75% of normal milk intake - Clinical dehydration - Respiratory rate > 70 - O2 sats < 92% - Severe respiratory distress (deep recession, grunting) - Apnoeas - Parents cannot manage or access medical help from home

Answer 21

- Ensuring adequate intake, oral, NG tube or IV fluids - Saline nasal drops and nasal suctioning - Supplementary oxygen if O2 < 90% (92 if <6m or high risk) - Ventilatory support if required - e.g. high-flow humidified O2 ## Footnote Guidelines advise against neubulised hypertonic saline, bronchodilator, steroids and abx

Answer 22

Capillary blood gas (taken from big toe) Signs of poor ventilation - Rising pCO2 - indicates airway collapse - Falling pH - CO2 build-up and failing to buffer the resulting respiratory acidosis

Answer 23

Monoclonal antibody that targets RSV. Monthly injection for high-risk babies e.g. ex-premature and those with congenital heart disease Passive protection by circulating antibodies, and does not activate the baby's immune system until virus is encountered.

Answer 24

- Wheezing- whistling sound caused by narrowed airways, typically heard during expiration - Grunting is caused by exhaling with the glottis partially closed to increase positive end-expiratory pressure - Stridor is a high pitched inspiratory noise caused by obstruction of the upper airway, for example in croup

Answer 25

Intense swelling of the epiglottis (tissue that covers the trachea when swallowing) and surrounding tissues associated with septicaemia. Life-threatening emergency due to the high risk of respiratory obstruction.

Answer 26

H.influenza type B (Hib), introduction of vaccine in infants reduced incidence by 99%

Answer 27

Very acute onset with: - High fever in a very ill, toxic-looking (septic) child - intense painful throat that prevents the child from speaking or swallowing = drooling saliva - Soft inspiratory stridor and increasing respiratory difficulty over hours - Child sitting upright and immobile with mouth open to optimise airflow

Answer 28

Onset: croup days, epiglottitis hours Preceding coryza: croup: yes, epiglottitis: no Able to drink: croup: yes, epiglottitis: no Drooling saliva: croup: no, epiglottitis: yes Appearance: croup: unwell, epiglottitis: toxic, very ill Fever: croup: <38.5°C epiglottitis: >38.5°C Stridor: croup: harsh, rasping, Epiglottis: soft, whispering Voice, cry: croup: hoarse, epiglottis: muffled, reluctant to speak

Answer 29

If acute epiglottis suspected, then urgent hospital admission and treatment need to be commenced. Do not do investigations, and do not lie child down or exam throat with spatula as it can contribute to resp obstruction and death. Lateral neck x-ray = characteristic “thumb sign” or “thumbprint sign”. s a soft tissue shadow that looks like a thumb pressed into the trachea. Caused by oedematous and swollen epiglottis.

Answer 30

- Remain calm and organised to reduce anxiety - Call most senior paediatrician and anaesthetist available - Management focuses on ensuring that the airway is secure, intubation or tracheostomy - not required but should be prepared to do so if upper airways close - When intubated, transfer to ICU Additional treatment once the airway is secure: - IV antibiotics (e.g. cefotaxime or ceftriaxone) - Steroids (i.e. dexamethasone)

Answer 31

With right treatment, recovery in 2-3 days Complication: epiglottic abscess = a collection of pus around the epiglottis. Life-threatening and treatment is similar to acute epiglottis

Answer 32

URTI - oedema and inflammation of airways and larynx Classic cause for exams = parainfluenza virus Usually improves < 48 hours and responds well to dexamethasone

Answer 33

- Increased work of breathing - “Barking” (like a sea lion) cough,in clusters of coughing episodes - Hoarse voice - Stridor - Low-grade fever - Start and worse at night

Answer 34

Most cases = supportive treatment at home (fluids and rest). Admission if - Stridor and/or sternal recession at rest - High fever - Respiratory rate > 60 - Cyanosis - Lethargy or agitation - Fluid intake < 75% of normal or no wet nappies for 12 hours - Aged under 3 months - Chronic conditions 1st line - oral dexamethasone very effective, single dose of 150 mcg/kg, and repeated after 12hrs if needed. Predinisolone as alternative O2, neubilised adrenalin, nebulised budesonide, intubation and ventilation if severe

Answer 35

Congenital, or acquired Congenital - Maternal rubella or cytomegalovirus infection during pregnancy - Genetic deafness can be autosomal recessive or autosomal dominant Perinatal - Prematurity - Hypoxia during or after birth After birth - Jaundice - Meningitis and encephalitis - Otitis media or glue ear - Chemotherapy

Answer 36

The UK newborn hearing screening programme (NHSP) - ideally at 4 - 5 weeks, but up to 3 months. Special equipment delivers sound to each eardrum and identifies response - detects congenital hearing problems

Answer 37

Parental concern over hearing and behavioural changes associated with not being able to hear - Ignoring calls or sounds - Frustration or poor behaviour - Poor speech and language development - Poor school performance

Answer 38

- < 3 years old = basic response to sound (e.g. turning head towards sound) - Audiometry for older children - test with headphones and specific tones and volumes - Results are recorded on an audiogram - identify and differentiate between sensorineural or conductive hearing loss

Answer 39

- Frequency (Hz) on x-axis - Volume (dB) on y-axis - ascending loud to quiet - Hearing tested to establish minimum volume (dB) required for patient to hear different frequencies (Hz) - Air and bone conduction tested separately in each ear (normal = 0 - 20dB) Sensorineural hearing loss - both air and bone conduction > 20dB Conductive hearing loss = bone conduction reading normal but air conduction readings > 20dB Mixed = both air and bone conduction > 20dB, but bone conduction > air conduction by 15dB or more

Answer 40

MDT approach - Speech and language therapy - Educational psychology - ENT specialist - Hearing aids for children who retain some hearing - Sign language

Answer 41

Infection in the middle ear - space between tympanic membrane and inner ear - contains cochlea, vestibular apparatus and nerves

Answer 42

Preceded by viral URTI, bacteria enter the ear from back of throat through the eustachian tube Most common bacteria = streptococcus pneumoniae Others include Haemophilus influenzae and staphylococcus aureus

Answer 43

- Ear pain - Reduced hearing - URTI symptoms e.g. fever, cough, coryzal symptoms, sore throat, generally unwell - Vertigo and balance issues if vestibular system is affected - Discharge if tympanic membrane perforated Symptoms can be non-specific, especially in young children and infants - fever, vomiting, irritability, lethargy or poor feeding - worth examining ears!

Answer 44

Examination of both ears and throat of unwell children as they are common sites of infection that produce non-specific symptoms. Use a otoscope Normal tympanic membrane = pearly grey, translucent and slightly shiny + malleus visible through membrane Otitis media = bulging, red, inflamed membrane

Answer 45

If symptoms severe or diagnostic doubt - consider referral to paeds Always specialist referral and consider admission in < 3m olds with temp > 38 or 3-6m with temp > 39 Most cases resolve without abx within 3 days and NICE 2018 recommends not prescribing abx for OM

Answer 46

Three options: - Immediate abx - significant comorbidities, systemically unwell or immunocompromised - < 2yo, bilateral OM, otorrhoea = abx! - Delayed abx - prescription of abx for use and collection after 3 days if no improvement or worsened - 1st line = amoxicillin for 5 - 7 days - Clarithromycin for penicilin allergy, erythromycin for pregnant women with pen allergy - Safety net, eduction and advice to patients and parents on when to seek further medical attention

Answer 47

- Otitis media with effusion - Hearing loss (usually temporary) - Perforated eardrum - Recurrent infection - Mastoiditis (rare) - Abscess (rare)

Answer 48

Glue ear is otitis media with effusion. The middle ear becomes full of fluid, causing a loss of hearing in that ear. The Eustachian tube connects the middle ear to the back of the throat, helping drain secretions. If blocked then secretions will build up in middle ear.

Answer 49

Checking what blood type the patient has and checking the transfusion blood is a match, not prepared blood Cross match - same as above but requesting a specific number of blood from the lab to be available immediately

Answer 50

Reduction of hearing in affected ear

Answer 51

Otoscopy - a dull tympanic membrane with air bubbles or a visible fluid level, although it can look normal.

Answer 52

Referral for audiometry to establish diagnosis and extent of hearing loss. Conservative treatment and usually resolves in 3 month If co-morbidities affecting ear structure e.g. Down's syndrome or cleft palate might need hearing aids or grommets

Answer 53

Tiny tubes inserted into the tympanic membrane by the ENT surgeon This allows fluid from the middle ear to drain through the tympanic membrane to the ear canal. Inserted under GA as a day case Grommets usually fall out within a year, 1 in 3 will require further grommet insertion

Answer 54

Squint refers to misalignment of the eyes, aka strabismus. This results in the images on the retina not matching and the person will experience double vision.

Answer 55

- Strabismus: the eyes are misaligned - Amblyopia: the affected eye becomes passive and has reduced function compared to the other dominant eye, as the brain has learnt to ignore signals from the affected eye - Esotropia: inward-positioned squint (affected eye towards the nose) - Exotropia: outward positioned squint (affected eye towards the ear) - Hypertropia: upward moving affected eye - Hypotropia: downward moving affected eye

Answer 56

Usually idiopathic in healthy children - Hydrocephalus - Cerebral palsy - Space-occupying lesions e.g. retinoblastoma - Trauma

Answer 57

- General inspection - Eye movements - Fundoscopy (or red reflex) to rule out retinoblastoma, cataracts etc. - Visual acuity **Hirschberg’s test** - Pen-torch shone in patient's eye from 1m away, observe reflection on their cornea, normally central and symmetrical. - Deviation indicates a squint **Cover test** Cover one eye and ask patient to focus on object in front of them, move cover across to opposite eye. If previously covered eye moves inwards = drifted outwards when covered = exotropia if it moves outwards = drifted inwards when covered (esotropia).

Answer 58

- Treatment needs to start before 8yo as visual fields develop until then., otherwise squint becomes permanent - Managed by an ophthalmologist - Treat underlying pathology - Occlusive patch - covers good eye to allow weaker eye to develop - Atropine drops - blurs vision in good eye

Answer 59

Infection of tissues in the eyelid or skin around the eyes - unilateral. Main clinical features: fever, erythema, tenderness and oedema around the affected eyelid.

Answer 60

Prompt oral/ IV antibiotics such as high-dose ceftriaxone to prevent spread of infection causing orbital cellulitis. Always check local guidelines

Answer 61

Usually, the pressure in LV > RV, so blood flows from LV to RV via the VSD = acyanotic because blood is oxygenated. However, left to right shunt leads to right-sided overload, RHF and pulmonary HTN Over time, this increases RV pressure and causes right to left shunt, bypassing lungs = deoxygenated blood in systemic circulation = patient cyanotic, known as Eisenmenger syndrome

Answer 62

A congenital defect (hole) in the septum between the two ventricles. Varies from small (≤3mm) to entire septum. Usually associated with genetic conditions such as Down’s Syndrome and Turner’s Syndrome.

Answer 63

- Picked up on antenatal scans - Newborn baby check - murmur However, often symptomless and can present in adulthood. If symptoms, typically: - Poor feeding - Dyspnoea - Tachypnoea - Failure to thrive Examinations: - Pan-systolic murmur - prominently at left lower sternal border in 3rd + 4th intercostal space

Answer 64

- Ventricular septal defect - Mitral regurgitation - Tricuspid regurgitation.

Answer 65

Paediatric cardiologist Small VSD with no symptoms = monitoring as they can close spontaneously Surgery: Transvenous catheter closure via the femoral vein or open heart surgery. Increased risk of infective endocarditis, so prophylactic abx should be considered during surgery

Answer 66

- Fetal development - septum primum and secundum (two walls) form valve to allow R > L shunt - They fuse with endocardial cushion to form atrial septum - Foreman ovale is a hole in septum secundum Types: - Patient foremen ovale - Ostium secundum - septum secundum fails to fully close - Ostium primum - septum primum fails to fully close (leads to atrioventricular septal defect

Answer 67

Acyanotic heart disease as left to right shunt Symptoms - None (commonly) - Poor feeding, failure to thrive - Poor weight gain - Recurrent LRTI - Adulthood: stroke, dysponea, palpitations, exercise intolerance, syncope Signs - Hepatomegaly - Oedema - Ejection systolic murmur particularly at the upper left sternal edge, and split 2nd heart sound due to pulmonary valve closing after aortic valve

Answer 68

- CXR - cardiomegaly, enlarged pulmonary arteries - Echocardiogram to determine anatomy - gold standard

Answer 69

- Paediatric cardiologist - Treatment is needed if ASD is large enough to cause right-heart dilatation. - Secundum ASD - percutaneous transvenous catheter closure via femoral vein - Partial AVSD = surgical correction - 3-5 years old to prevent right heart failure and arrhythmias in later life.

Answer 70

A congenital condition where there is narrowing of the aortic arch, usually around the ductus arteriosus Mild to severe Usually associated with TUrner's syndrome This narrowing reduces blood pressure flowing to distal arteries and increases BP in areas proximal to the narrowing, such as the heart and the first three branches of the aorta.

Answer 71

- Very sick baby - grey and floppy - Poor feeding Signs - Normal in 1 day after birth, then present with acute resp collapse once duct closes (if severe) - Neonates: weak/absent femoral pulses - Severe heat failure - Four limb BP will reveal HTN in limbs supplied by arteries before the narrowing, low BP in limbs supplied by arteries after the narrowing

Answer 72

CXR - cardiomegaly from heart failure and shock if severe ECG - normal Echocardiogram and CT aorta (past paper)

Answer 73

Mild - watch and wait as often symptom-free until adulthood Severe - emergency surgery shortly after birth - Prostaglandin E (Alprostadil) given to keep ductus arteriosis patent while waiting for surgery to allow for blood flow to distal circulation Open surgery or ballon angioplasty and stent insertion to correct the coarctation and to ligate the ductus arteriosus.

Answer 74

A blood vessel present in the fetus in the womb that connects the pulmonary artery to the aorta - shunting oxygenated blood straight into the aorta, bypassing the fetal lungs.

Answer 75

The ductus arteriosus normally stops functioning shortly after birth and closes within 2-3 weeks. PDA is the failure of it to close.

Answer 76

- Prematurity - Maternal rubella infection - Female sex - <3m

Answer 77

Aorta pressue > pulmonary vessels pressure Bloods from aorta flows into pulmonary artery = left to right shunt, leading to pulmonary hypertension and RH strain as the RV struggles to contract against increased resistance. This leads to right ventricular hypertrophy, which increases blood flow to the pulmonary vessels and returning to the LH leading to LVH.

Answer 78

- Shortness of breath/ tachypnoea - Difficulty feeding - Poor weight gain - Lower respiratory tract infections Sometimes patients with PDA can be asymptomatic in childhood and present with heart failure as an adult Signs: Small - no murmur Larger - continuous crescendo-decrescendo "machinery" murmur that can continue during the second heart sound, making the S2 hard to hear

Answer 79

Echocardiogram = investigation of choice Doppler flow studies during the echo can determine the size of the LtoR shunt and check for RVH + LVH.

Answer 80

- Symptomatic preterm infants: Ibruprofen as NSAIDs effective in promoting ductal closure. - Term infants and children with small/moderate PDA: trans-catheter closure to prevent heart failure - Large ducts - surgical ligation

Answer 81

- Coarctation of the aorta - ASD - Pulmonary hypertension

Answer 82

Congenital aortic valve stenosis are born with a narrow aortic valve that restricts blood flow from the LV into the aorta The aortic valve is usually made up of 3 leaflets, which prevents backflow of blood from the aorta into the LV. Patients with aortic stenosis may have one, two, three or four leaflets.

Answer 83

- Most common is an asymptomatic murmur - Severe stenosis = reduced exercise tolerance, chest pain on exertion or syncope - Neonates with critical aortic stenosis and duct-dependent circulation may present with severe heart failure leading to shock Signs - Ejection systolic murmur loudest at aortic area (2nd ICS, right sternal border) - crescendo-decrescendo - Carotid thrill (always)

Answer 84

Echocardiogram - normal or prominent LV with post-stenotic dilatation of ascending aorta

Answer 85

Regular monitoring with echocardiograms to know when to intervene, and treatment options: Symptomatic on exercise: balloon valvuloplasty, using a balloon to open the narrowed valves. Significant aortic valve stenosis - aortic valve replacement eventually. Early palliative treatment to delay this

Answer 86

- Left ventricular outflow tract obstruction - Heart failure - Ventricular arrhythmia - Infective endocarditis - Sudden death, often on exertion

Answer 87

The pulmonary valve usually has leaflets. If they develop abnormally, they can become thickened or fused, which causes a narrowing between the pulmonary artery and RV - this is known as congenital pulmonary valve stenosis.

Answer 88

- Tetralogy of Fallot - William syndrome - Noonan syndrome - Congenital rubella syndrome

Answer 89

- Often asymptomatic murmur - More significant stenosis can present with fatigue on exertion, shortness of breath, dizziness and fainting. Signs - Ejection systolic murmur heard loudest at the pulmonary area (2nd ICS, left sternal border) - Palpable thrill in the pulmonary area - RV heave due to RVH - Raised JVP with giant A waves (↑ pressure in right atrium)

Answer 90

- Echocardiogram = gold standard - Mild = watch and wait and followed up by cardiologist Symptomatic or moderate - balloon valvuloplasty with venous catheter. Catheter inserted under x-ray guidance via femoral vein to IVC to RH and valve is dilated by inflating a balloon Open-heart surgery if above is ineffective

Answer 91

A congenital heart condition that combines 4 pathologies: - Ventricular septal defect (VSD) - Overriding aorta - Pulmonary valve stenosis - Right ventricular hypertrophy

Answer 92

1. Pulmonary valve stenosis - restrictss the flow of deoxygenated blood from RV to the pulmonary artery 2. Right ventricular hypertrophy - RV compensates for increased resistance by undergoing hypertrophy (boot-shaped heart) 3. Ventricular septal defect (VSD) - gap between the RV and LV, which allows shunting of blood between them. Due to RV hypertrophy, pressure in the RV > LV and deoxygenated blood is shunted from RV to LV 4. Overriding aorta - aorta entrance sits above the septal defect, meaning that a greater proportion of deoxygenated blood enters the aorta and systemic circulation from RV

Answer 93

- Rubella infection - Maternal age > 40 - Alcohol consumption in pregnancy - Diabetic mother

Answer 94

- Most picked up on antenatal scans - Cyanosis - Clubbing - Poor feeding - Poor weight gain Signs - Ejection systolic murmur heard loudest in the pulmonary area (second intercostal space, left sternal border) - “Tet spells”

Answer 95

This is when the right to left shunt in TOF temporarily worsens, e.g. during exertion. This will precipitate a cyanotic episode.

Answer 96

Older children may squat, younger children = position their knees to their chest - this increases systemic vascular resistance = more blood into the pulmonary vessels Medical management by experienced paediatrician if lasts > 15mins - O2 in hypoxic children - Beta-blockers to relax RV - IV fluids to increase pre-load - Morphine to reduce respiratory drive and improve breathing - Sodium bicarbonate for metabolic acidosis - Phenylephrine infusion to increase systemic vascular resistance

Answer 97

CXR - boot-shaped heart, normal shape does not rule out TOF Echocardiogram is gold standard and will show the four cardinal features ECG - normal at birth then RVH when older

Answer 98

- In neonates, a prostaglandin infusion to maintain the ductus arteriosus, allows blood flow from aorta back to the pulmonary arteries - Definitive treatment at 6 months with total surgical repair through open heart surgery is the definitive treatment. 5% mortality. 90% will live into adulthood with corrective surgery

Answer 99

This is a condition where the attachments of the aorta and the pulmonary artery to the heart are swapped (“transposed”). The aorta is connected to the right ventricle and the pulmonary artery is connected to the left ventricle. The deoxygenated oxygen is returned to the body and the oxygenated blood is returned to the lungs. Parallel circulation with no mixing of blood and is incompatible with life, unless there is mixing through VSD, ASD or PDA which allow a shunt between the systemic circulation and pulmonary circulation.

Answer 100

- Usually picked up on antenatal scans - Cyanosis will always be present - A shunt created by VSD, ASD or PDA usually compensates by allowing the mixing of pulmonary and systemic circulation - However, the child will present with poor feeding, poor weight gain respiratory distress, and tachycardia within a few weeks of birth

Answer 101

Gold standard is echocardiogram and will show abnormal arterial connections and associated abnormalities.

Answer 102

VSD will buy some time before the definitive treatment In PDA, a prostaglandin infusion will ensure patency - Balloon septostomy will create a large ASD to allow blood returning from lungs to left side to flow into right side and then systemic circulation - Definitive management is open heart surgery. A cardiopulmonary bypass machine used to do an “arterial switch” soon after birth. VSD or ASD also corrected if present

Answer 103

A complex clinical syndrome in which the heart, due to structural or functional defects, cannot pump enough blood to meet the metabolic needs of the child's body.

Answer 104

Symptoms - Breathlessness (particularly on feeding or exertion) - Sweating - Poor feeding - Recurrent chest infections Signs - Poor weight gain or faltering growth - Tachypnoea - Tachycardia - Heart murmur, gallop rhythm - Enlarged heart - Hepatomegaly - Cool peripheries

Answer 105

Neonates - usually due to left-heart obstruction e.g. critical aortic valve stenosis, severe coarctation of the aorta Infants - VSD, ASD, persistent PDA Older children - Eisenmenger syndrome, rheumatic heart disease

Answer 106

Blood tests: FBC, U+Es, LFTs, CRP, TFTs, bone profile, Magnesium, B-type natriuretic peptide (BNP) Imaginig: CXR, echocardiogram, ECG

Answer 107

Depends on underlying cause - Conservative: Fluid restriction and dietitian-guided feeding plans - Medical: diuretics with inotropes (increases contractility) if required Surgical: correction of the anatomical defect if present; heart transplant in end-stage cases

Answer 108

A short-lived, multisystem autoimmune response to a preceding infection with group A β-haemolytic streptococcus. Mainly affects children aged 5 - 15 Progresses to rheumatic heart disease in up to 80% of cases

Answer 109

If rheumatic fever remains untreated, it can progress into chronic rheumatic heart disease The most common is mitral stenosis from long-term scarring and fibrosis. However, aortic, tricuspid and rarely pulmonary valves can be affected.

Answer 110

Tonsillitis, caused by strep pyogenes Antibodies mounted against infection, but they also attack e.g. muscle cells in myocardium, joints, skin and nervous system Type 2 hypersensitivity reaction, delayed 2 - 4 weeks after infection Fever, joint pain, rash, SOB, chorea, nodulles

Answer 111

Jonas criteria - two major or one major and one minor and evidence of preceding group A streptococcal infection 5 major manifestations - Carditis (50%) - Migratory arthritis (80%) - Sydenham chorea (10%) - Erythema marginatum (5%) - rash on trunk and limbs 4 minor manifestations - Fever (≥38.5°C) - Polyarthralgia - Elevated ESR or CRP - Prolonged PR interval on electrocardiogram.

Answer 112

- Strep tonsillitis - treat with phenoxymethylpenicillin for 10 days, helps prevent rheumatic fever - Rheumatic fever: specialist referral - NSAIDs for joint pain - High-dose aspirin and steroids for carditis - Heart failure: diuretics and ACE inhibitor

Answer 113

Prophylaxis: IM benzathine benzylpenicillin - Oral erythromycin if penicillin allergy - For 5 years or until 21, or lifelong if severe valvular disease - Surgical valve repair or replacement

Answer 114

Infection of the endocardium (inner surface) of the heart. Most commonly affects the heart valves.

Answer 115

All children with congenital heart disease (except secundum ASD). Highest risks: - VSD, coarctation of aorta and PDA due to the turbulent jet of blood. - Prosthetic material/valves

Answer 116

Most common: alpha-haemolytic strep (strep viridans)

Answer 117

Suspect IE in any child or adult with sustained fever, malaise, raised ESR, unexplained anaemia or haematuria (microscopic) Other features - Changing or new heart murmur - Splinter haemorrhages - Clubbing (late) - Necrotic skin lesions on palms and soles (Janeway lesions) - Osler's nodes - Splenomegaly - Neurological signs from cerebral infarction - Retinal infarcts (Roth spots) - Arthritis/arthralgia DO NOT rely on peripheral stigmata

Answer 118

Blood cultures before antibiotics. 30 min intervals, 3 different sites. If sepsis, do not delay empirical antibiotics Imaging Echocardiography- transoesophageal echocardiography (TOE), vegetations (an abnormal mass containing fibrin, platelets and the infective organism) on valves

Answer 119

Modified dukes criteria One major & three minor criteria OR five minor criteria Major criteria are: - Persistently positive blood cultures (typical bacteria) - Specific imaging findings (e.g. vegetation on echocardiogram) Minor criteria are: - Predisposition (e.g., IV drug use or heart valve pathology) - Fever > 38°C - Vascular phenomena (e.g., splenic infarction, intracranial haemorrhage and Janeway lesions) - Immunological phenomena (e.g., Osler’s nodes, Roth spots and glomerulonephritis) - Microbiological phenomena (e.g., positive cultures not qualifying as a major criterion)

Answer 120

- Highly sensitive streptococci - 4 weeks IV penicillin or IV ceftriaxone Penicillin resistance streptococci - 4 weeks IV penicillin or ceftriaxone + gentamicin for the first 2 weeks

Answer 121

Good dental hygiene, strongly encouraged for children with congenital heart disease Avoid tattoos and piercings Antibiotics prophylaxis no longer recommended in the UK, but dental procedures and surgery can be associated with bacteremia

Answer 122

Innocent murmurs or flow murmurs are common in children, they occur because of fast blood flow through the heart during systole 6S to remember the features of innocent murmurs - Soft - Short - Systolic - S1 and S2 normal - Symptomless - Situation dependent - quieter on standing or only present when child is ill or feverish

Answer 123

- Murmur louder than grade 2 out of 6 - Diastolic murmurs - Louder on standing - Other symptoms such as failure to thrive, feeding difficulty, cyanosis or shortness of breath

Answer 124

ECG Chest Xray Echocardiography

Answer 125

- Mitral regurgitation heard at the mitral area (fifth intercostal space, mid-clavicular line) - Tricuspid regurgitation heard at the tricuspid area (fifth intercostal space, left sternal border) - Ventricular septal defect heard at the left lower sternal border

Answer 126

- Aortic stenosis heard at the aortic area (second intercostal space, right sternal border) - Pulmonary stenosis heard at the pulmonary area (second intercostal space, left sternal border)

Answer 127

Supraventricular tachycardia (SVT) HR is about 200 - 300 beats/min

Answer 128

Heart failure in neonates or young infants Its known as re-entry tachycardia because there is premature activation of the atrium via an accessory pathway Cause of fetal hydrops (severe oedema) and intrauterine death

Answer 129

ECG - narrow complex tachycardia (250 to 300 beats/min)

Answer 130

- Restoration of sinus rhythm is key - IV adenosine – the treatment of choice. It works by breaking the re-entry circuit between the AV node and the accessory pathway - Electrical cardioversion if adenosine fails - Maintenance therapy e.g. flecainide, in most cases, attacks stop after 1yo - Wolff-white syndrome - atrial pacing (pacemaker) or percutaneous radiofrequency ablation or cryoablation of the accessory pathway.

Answer 131

A condition where there is hypertrophy and narrowing of the pyloric sphincter - smooth muscle between the stomach and duodenum. This leads to gastric outlet obstruction.

Answer 132

As it is increasingly difficult for food to pass from the stomach to the duodenum, the stomach compensates by increasing the peristalsis force to push food through. Eventually becomes strong enough to eject food into the oesophagus, causing projectile vomiting - a classic symptom of pyloric stenosis to look out for in exams

Answer 133

- 2 - 8 weeks of age - Most common in boys and those with FHx

Answer 134

- Typically a thin, pale, hungry baby with failure to thrive and weight loss - Projectile vomiting Signs on examination - Visible peristalsis - Firm, round mass present in upper abdomen "feels like a large olive" due to hypertrophic muscle of the pylorus.

Answer 135

- Test feed to visualise peristalsis - Blood gas - Abdominal ultrasound to visualise the thickened pylorus

Answer 136

- Hypochloraemic (low chloride) metabolic alkalosis as a result of vomiting stomach contents

Answer 137

IV fluids to correct fluid and electrolyte balance Definitive treatment: laparoscopic pyloromyotomy - incision made in pylorus smooth muscle to widen canal, allowing food to pass from stomach to duodenum. Prognosis = excellent after opreation.

Answer 138

Sotmach content > lower oesophageal sphincter > oesophagus, throat and mouth. In babies, lower oesophageal sphincter is still developing Normal for babies to reflux, no problem if growth normal 90% infants stop having reflux by 1 year

Answer 139

If reflux is accompanied by the following features: - Chronic cough - Hoarse cry - Distress after feeding - Reluctance to feed - Recurrent pneumonia - Poor weight gain Children > 1 year = similar to adults with heartburn, acid regurgitation, retrosternal or epigastric pain, bloating and nocturnal cough.

Answer 140

- Not keeping down any feed (pyloric stenosis or intestinal obstruction) - Projectile or forceful vomiting (pyloric stenosis or intestinal obstruction) - Reduced consciousness, bulging fontanelle or neurological signs (meningitis or raised intracranial pressure) - Blood in the stools (gastroenteritis or cows milk protein allergy) - Rash, angioedema and other signs of allergy (cow milk protein allergy)

Answer 141

Simple, advice and reassurance: - Small, frequent meals - Burping regularly - Not over-feeding Keep the baby upright after feeding If more problematic: - Gaviscon mixed with feeds - Thickened milk or formula (specific anti-reflux formulas) - Proton pump inhibitors (e.g., omeprazole)

Answer 142

- The invagination of a proximal segment of the bowel into a distal one - Often the ileum folding into the caecum (pouch connecting small and big bowel) - Most common 3m - 2y boys

Answer 143

- Severe, colicky abdominal pain - Pale, lethargic and unwell child - “Redcurrant jelly stool” - A "sausage-shaped" mass palpated in RUQ - Vomiting - Intestinal obstruction presenting as absolute constipation and abdominal distention Classic: preceding URTI > intestinal obstruction (vomiting, absolute constipation and abdominal distention).

Answer 144

Abdominal ultrasound is the gold standard Classic "target"/doughnut sign

Answer 145

A congenital condition where nerve cells of the myenteric plexus are absent in the distal bowel and rectum. The myenteric plexus, or Auerbach’s plexus, forms the enteric nervous system. It is the brain of the gut.

Answer 146

- Therapeutic enemas - contrast, water or air pumped into colon to force the folded bowel back into normal position - Surgical reduction if above ineffective - Gangrenous or perforated bowel = surgical resection

Answer 147

- Overfeeding - Gastro-oesophageal reflux - Pyloric stenosis (projective vomiting) - Gastritis or gastroenteritis - Appendicitis

Answer 148

- Delay in passing meconium (more than 24 hours) - Chronic constipation since birth - Abdominal pain and distention - Vomiting - Poor weight gain and failure to thrive

Answer 149

During normal fetal development, the parasympathetic ganglion cells migrate down to the distal colon and rectum from the higher GI tract. In Hirschprung's disease, this process does not occur, leading to an absence of parasympathetic ganglion cells in the distal colon and rectum.

Answer 150

Inflammation and obstruction of the intestine occurring in around 20% of neonates with Hirschsprung’s disease. Presents within 2 -4 weeks after birth Fever, abdominal distention, diarrhoea (often with blood) and features of sepsis. Life-threatening, it can lead to toxic megacolon and perforation of the bowel. Mx = urgent IV abx, fluid resuscitation and decompression of the obstructed bowel.

Answer 151

Abdominal x-rays can help diagnose intestinal obstruction and demonstrate features of HAEC. Rectal biopsy to confirm the diagnosis. Histology demonstrates the absence of ganglionic cells. Systemically unwell and enterocolitis = fluid resuscitation and mx of intestinal obstruction. IV antibiotics are required in HAEC. Definitive mx = surgical removal of the aganglionic section of bowel.

Answer 152

Wide range of causes, but below are common: Organic - Appendicitis - most common - Constipation - Urinary tract infection - Coeliac disease - IBD Functional - IBS - Abdominal migraine Additional causes in adolescent girls: - Dysmenorrhea (period pain) - Ectopic pregnancy - Pelvic inflammatory disease - Ovarian torsion - Pregnancy

Answer 153

- Persistent or bilious vomiting - Severe chronic diarrhoea - Fever - Rectal bleeding - Weight loss or faltering growth - Dysphagia (difficulty swallowing) - Nighttime pain - Abdominal tenderness

Answer 154

- Anaemia - IBD or coeliac's disease - Raised anti-TTG or anti-EMA - coeliac's - Raised CRP - IBD - Raised faecal calprotectin - IBD - Positive urine dipstick - UTI

Answer 155

Stressful life events such as bullying

Answer 156

Reassurance and explanation Measures to help with the pain: - Distraction with other activities or interests - Advice about sleep, regular meals, balanced diet, staying hydrated, exercise and reducing stress - Probiotic supplements for IBS - Avoid NSAIDs such as ibuprofen Address psychosocial triggers - Support from a school counsellor or child psychologist

Answer 157

The infrequent passage of dry, hardened faeces often accompanied by straining or pain and bleeding associated with hard stools. Very common problem in children, usually due to lifestyle factors and not more serious pathology.

Answer 158

The frequency of bowel opening varies hugely, breast-fed babies might only have one stool a week. Important to establish what is normal for the child and how it has changed. - Less than 3 stools a week - Hard, rabbit-dropping stools that are difficult to pass - Straining and pain - Abdominal pain - Rectal bleeding associated with hard stools - Faecal impaction causing overflow soiling - Loss of the sensation of the need to open the bowels - Papable stools in the abdomen

Answer 159

- Hirschsprung's disease - Cystic fibrosis (particularly if meconium ileus) - Hypothyroidism

Answer 160

- Not passing meconium within 48 hours of birth (cystic fibrosis or Hirschsprung’s disease) - Vomiting (intestinal obstruction or Hirschsprung’s disease) - Abnormal anal anatomy/patency (inflammatory bowel disease or sexual abuse) - Failure to thrive (coeliac disease, hypothyroidism or safeguarding) - Acute severe abdominal pain and bloating (obstruction or intussusception)

Answer 161

- Habitually not opening the bowels, can cause faecal impaction - Low fibre diet - Poor fluid intake and dehydration - Sedentary lifestyle Psychosocial problems such as a difficult home or school environment (think safeguarding)

Answer 162

Explain diagnosis and provide reassurance - treatment can take months - HIgh fibre, hydration - Laxatives -macrogol is 1st line - Faecal impaction - disimpaction with high dose laxatives and continue long-term until child develops normal, regular bowel habit

Answer 163

Appendicitis is inflammation of the appendix. Caused by trapped bacteria > infection and can quickly proceed to gangrene and rupture. This releases faecal and infective matter into the abdomen, causing peritonitis Peak incidence between 10 to 20, uncommon <3 years old

Answer 164

Symptoms - Key presenting feature = abdominal pain - It starts central then localises to right iliac fossa - Anorexia - Nausea and vomiting Signs - Abdominal tenderness at McBurney's point (1/3 distance from ASIS to umbilicus) - Rovsing’s sign (palpation of the left iliac fossa causes pain in the RIF) - Guarding (involutary tensing on abdo palpation) - Rebound tenderness suggests peritonitis

Answer 165

- Clinical diagnosis supported by raised inflammatory markers - CT abdomen to confirm the diagnosis - In females, USS to rule out ovarian and gynae pathology - If symptoms point to appendicitis but investigations are negative then diagnostic laparoscopy to visualise the appendix. - Then appendicectomy if indicated.

Answer 166

- Ectopic pregnancy - consider this in females of childbearing age and do a pregnancy test - Ovarian cysts - pelvic and iliac fossa pain, particularly with rupture or torsion.

Answer 167

Appendicectomy - laparoscopic preferred to laparotomy (open)

Answer 168

- Bleeding, infection, pain and scars - Damage to bowel or bladder - Venous thromboembolism (DVT or PE)

Answer 169

IBD is an umbrella term for ulcerative colitis and Crohn's disease, they both cause inflammation of the GI tract with periods of exacerbation and remission.

Answer 170

Crow's nest - N – No blood or mucus (less common in Crohns.) - E – Entire GI tract (mouth to anus) - S – “Skip lesions” on endoscopy - T – Terminal ileum most affected and Transmural (full thickness) inflammation - S – Smoking is a risk factor (don’t set the nest on fire)

Answer 171

U = CLOSE UP - C – Continuous inflammation - L – Limited to colon and rectum - O – Only superficial mucosa affected - S – Smoking is protective - E – Excrete blood and mucus - U – Use aminosalicylates - P – Primary sclerosing cholangitis

Answer 172

- Abdominal pain - Diarrhoea - Weight loss However, children can present with no GI symptoms and lethargy, general ill health, weight loss and failure to thrive

Answer 173

- Rectal bleeding, diarrhoea and colicky pain (crampy abdo pain that comes in waves). - Weight loss and failure to thrive sometimes, but less common than in Crohn's

Answer 174

Common exam question - Finger clubbing - Erythema nodosum (red lesion on shins) - Pyoderma gangrenosum (skin ulcers) - Episcleritis and iritis - Inflammatory arthritis - Primary sclerosing cholangitis (ulcerative colitis)

Answer 175

Bloods - FBC (anaemia), thyroid, kidney and liver function. Raised CRP = raised inflammation Faecal calprotectin screening - released by the intestines when inflamed. 90% sensitive and specific for IBD in adults. Endoscopy (OGD and colonoscopy) + biopsy is gold standard

Answer 176

Blood tests for anaemia, infection, thyroid, kidney and liver function. Raised CRP = active inflammation U+E (electrolyte imbalance and kidney function) LFTs (low albumin in severe disease) Ferritin, B12, folate and vit D deficiency due to malabsorption TFTs for hyperthyroidism as ddx for diaherroea Anti-TTG for coeliac disease Stool microscopy and culture to exclude infection as ddx Faecal calprotectin - released by the intestines when inflamed. Endoscopy (OGD for upper GI features of Crohn's and colonoscopy with multiple biopsy is gold standard

Answer 177

NICE guidelines 2019, talk to seniors before treating Medical: Inducing Remission: - 1st line: steroids (e.g. oral prednisolone or IV hydrocortisone). Maintaining Remission: - Tailored to patient, patients can choose not to take meds when well - 1st line: azathioprine, mercaptopurine Surgery - Resection of distal ileum if only this area is affected - Treatment of secondary strictures and fistulas

Answer 178

**Inducing Remission** Mild to moderate disease - 1st line: aminosalicylate (e.g. mesalazine oral or rectal) Severe disease - 1st line: IV corticosteroids (e.g. hydrocortisone) **Maintaining Remission** - Aminosalicylate (e.g. mesalazine oral or rectal) or immunopressants **Surgery** - Removal of colon and rectum (panprotocolectomy) - Permanent ileostomy (stoma) or J-pouch, the small intestine is connected to the anal canal after removal of the colon and rectum

Answer 179

Autoimmune disease where autoantibodies are created when exposed to gluten. Remember anti-tissue transglutaminase (anti-TTG) and anti-endomysial (anti-EMA) - correlates to disease activity The antibodies target epithelial cells in the intestine, causing inflammation that particularly affects the jejunum Cause atrophy of intestinal villi and malabsorption

Answer 180

Genetic associations - HLA-DQ2 gene (90%) - Type 1 diabetes

Answer 181

Often asymptomatic, so low threshold for testing - Failure to thrive in young children - Abdominal pain - Diarrhoea - Steatorrhoea (fatty, pale, hard to flush stools) - Fatigue - Weight loss - Mouth ulcers - Anaemia secondary to iron, B12 or folate deficiency - Dermatitis herpetiformis (itchy, blistering rash on scalp, shoulders, buttocks, elbows, and knees) Rarer neurological symptoms - Peripheral neuropathy - Cerebellar ataxia - Epilepsy Test all patients with a new diagnosis of T1DM for coeliac

Answer 182

- Patients remain on gluten-containing diet - Check total immunoglobulin A levels to exclude IgA deficiency as coeliac disease-specific antibodies are IgA (false negative) - 1st line: raised anti-TTG antibodies - 2nd line: raised anti-endomysial antibodies Endoscopy and intestinal biopsy - crypt hypertrophy & villous atrophy

Answer 183

All products containing wheat, rye and barley are removed from the diet and this leads to the resolution of the symptoms. Supervised by dietician. Monitor coeliac antibodies

Answer 184

- Vitamin deficiency - Anaemia - Osteoporosis - Ulcerative jejunitis - Non-Hodgkin lymphoma (NHL)

Answer 185

Pathological immune response mounted against a specific food protein. IgE mediated or non-IgE mediated. Most common causes: - Infants - cow's milk, egg and peanuts - Older children – peanut, tree nut, fish and shellfish

Answer 186

A non-immunological hypersensitivity reaction to a specific food. Usually occurs few hours after ingestion and involves the GI tract.

Answer 187

- Formula-fed baby - Family history of atopy

Answer 188

- Usually occurs after 10 - 15 mins (up to 1hr) after ingestion **Mild reaction** - Urticaria and itchy skin - Facial swelling **Severe reaction** - Breathing difficulties - Wheeze - Stridor - Abdominal pain, vomiting, diarrhoea - Shock, collapse

Answer 189

- Diarrohea - Vomiting - Abdominal pain - Sometimes failure to thrive

Answer 190

- Clinical history is key - timing after exposure to allergen, previous and subsquent exposure and reaction to allergen, symprtoms, personal or family Hx of atopy or allergy - Skin prick test - a drop of food is added to skin and site is marked, weals of ≥ 4mm are positive - Measure blood IgE (useful for aeroallergens but not food) - Food challenge test (gold stardard)

Answer 191

- Avoidance of relevant food(s) - Personal allergy action plan - Food labelling in the EU mandates listing common allergens - Child and family learning to manage allergic attack with written self-management plans and training. - Mild (no cardiorespiratory symptoms): non-sedating antihistamines - Severe - IM adrenaline by autoinjector (e.g. Epipen) - Cow's milk and egg allergy usually resolves in early childhood, but nuts and seafood usually persists through to adulthood.

Answer 192

- Breast-feeding - mothers should avoid dairy - Special hydrolysed formulas designed for cow's milk allergy. The milk protein is broken down so they don't trigger an immune response (e.g. pepti-1) - Severe - elemental formulas of basic amino acids (e.g. neocate). - Slowly introduce milk products, they might eventually be able to tolerate it. Should outgrow by 3. - Same management for cow's milk intolerance -

Answer 193

- Life-threatening medical emergency - Severe type 1 hypersensitivity reaction, where IgE stimulates mast cells to rapidly release histamine and other pro-inflammatory chemicals - mast cell degranulation. - Rapid airway, breathing and/or circulation compromise.

Answer 194

- Often accompanied by history of exposure to allergen - Urticaria - Itching - Angio-oedema, with swelling around lips and eyes - Abdominal pain Additional symptoms - Shortness of breath - Wheeze - Swelling of the larynx, causing stridor - Tachycardia - Collapse

Answer 195

Medical emergency - managed by an experienced paediatrician ABCDE A – Airway: Secure the airway B – Breathing: O2 (15L 100%) - salbutamol for wheezing. C – Circulation: IV bolus of fluids D – Disability: Lie the patient flat to improve cerebral perfusion E – Exposure: Look for flushing, urticaria and angioedema 1. Intramuscular adrenaline, repeated after 5 minutes if required (150mcg for < 6, 300mcg for 6 to 12, 500mcg > 12 2. Antihistamines, e.g. oral chlorphenamine or cetirizine 3. Steroids, usually intravenous hydrocortisone

Answer 196

- Observation on paediatric unit as biphasic reactions are possible - Measure serum mast cell tryptase within 6 hours. It is released during mast cell degranulation and remains in blood for 6 hours after (common exam q!) - Education and follow-up of family and child, ensure family is trained in basic life support

Answer 197

- All children and adolescents with anaphylactic reactions - Generalised allergic reactions (without anaphylaxis) with risk factors: - Asthma requiring inhaled steroids - Poor access to medical treatment (e.g. rural)

Answer 198

Common condition in children Combination of acute gastritis - inflammation of the stomach and enteritis - inflammation of intestines.

Answer 199

- Rotavirus - Norovirus

Answer 200

Bacillus cereus - gram-positive rod, produces a toxin called cereulide when growing on food Course: - Abdominal pain + vomiting 5 hours of ingestion - Watery diarrhoea 8 hours after ingestion - Resolution within 24hrs Favourite one in exams because of its unique course

Answer 201

- E.coli (gram -ve, rod-shaped, anaerobic) - infected faeces, unwashed salads or contaminated water. - Campylobacter jejuni (gram -ve rods) - traveller's diaherra (most common cause of diahorreal disease wordwide) - Under cooked poultry - Untreated water

Answer 202

Incubation 2 to 5 days. Resolve after 3 to 6 days. Symptoms are: - Abdominal cramps - Diarrhoea often with blood - Vomiting - Fever Abx if severe or risk factors e.g. HIV

Answer 203

- Good hygiene - Isolation - barrier nursing and infection control - School absence until 48 hours after resolution - Food poisoning is notifiable - Microscopy, culture and sensentivies to idenify causative organism - Ensure hydration - oral rehydration salt or IV - Antidiarrhoeal medication such as loperamide and antiemetics not recommended

Answer 204

- Infection (gastroenteritis) - Inflammatory bowel disease - Lactose intolerance - Coeliac disease - Cystic fibrosis - Toddler’s diarrhoea - Irritable bowel syndrome - Medications (e.g. antibiotics)

Answer 205

A chronic non-specific diarrhoea seen in small children between 1 - 4. Common cause of chronic diarrhoea but should be a diagnosis of exclusion

Answer 206

- Frequent, poorly formed brown and smelly stools - Hallmark feature = food material in stools Important to note that the child is constitutionally well, normally active and has unimpaired growth. - Normal apetite and fluid intake - Examination and labs negative

Answer 207

Hisotry might reveal very high intake of fruit juices - hyperosmolar and contain sorbitol, a non-absorbable sugar alcohol - for example, pear juice, 2%; apple juice, 0.5%.

Answer 208

- Parental reassurance - Avoid full-strength fruit juices - Reduce intake of peas, corn and carrots which are not chewed properly and appear in stools - Faeces should become firm by age 3 years or when the child is toilet trained.

Answer 209

Protution of abdominal content through an opening in the diaphragm - usually left-sided through the posteriolateral foreman (should have fused in utero) of the diaphragm

Answer 210

- Usually picked up on the antenatal scan - If not, presents with respirstory distress - Apex beat and heart sound displaced to right chest with poor air entry on left chest

Answer 211

XR of chest + abdomen

Answer 212

- Resusitation might cause pneumothrox of normal lung - If diagnosis suspected, then a large nasogastric tube used to apply suction to prevent distension of the intrathoracic bowel. Then surgrical repair However, the worry with most infants is pulmonary hypoplasia - whee the lung is underdeveloped due to compressinon from hernia, mortality is high.

Answer 213

Insulin is a hormone that regulates blood sugar levels and it is produced by the pancreas, specfically the beta cells in the islets of Langerhans. Type 1 diabetes occurs when the beta cells are unable to produce insulin, due to destruction through an autoimmune process. Insulin stimulates cells to take up glucose so they can use it as fuel, however if insulin is absent and cells cannot use glucose, the body will believe that it is starving and the glucose levels will keep rising.

Answer 214

1. Stimulate cells to absorb glucose from blood and use it as fuel 2. Stimulates muscle and liver cells to take up glucose from blood and store it as glycogen

Answer 215

Classic triad: - Polyuria - Polydipsia - Weight loss Less common: - Secondary enuresis (bedwetting in previously dry child) - Recurrent infections Symptoms starts 1 - 6 weeks before diabetic ketoacidosis

Answer 216

- Raised random blood glucose (>11.1 mmol/L), glycosuria, and ketosis. - If in doubt, fasting blood glucose > 7mmol/L) or raised HbA1c (> 48mmol/mol) - FBC, renal profile (U +Es) - TFT and thyroid peroxide antibodies for associated autoimmune thyroid disease - Tissue transglutaminase (anti-TTG) antibodies for associated coeliac's)

Answer 217

- Patient and family education - Patients need to become "expert patients" as they become independent from their family Management: - Long-acting (basal) and short/rapid-acting (bolus) insulin i.e. basal bolus regime - Basal in the evening - provides constant insulin e.g. Lantus - Bolus - before meal times, calculated according to the number of carbohydrates consumed, e.g. Actrapid ( short-acting - take 25 mins before meal), novorapid (rapid-acting, take 10 mins before meals) - Continuous glucose monitors e.g. freestyle Libre - Insulin pumps - continuous infusion of insulin at different rates to control blood sugar levels

Answer 218

- Hunger - Tremor - Sweating - Irritability - Dizziness - Pallor - Severe: reduced consciousness, coma and death

Answer 219

- Rapid acting glucose - oral glucose tablet, *Lift* (oral glucose liquid) - Slower acting carbohydrates - biscuits or toast - Severe (unconcious) - IV 10% glucose 5 mL/kg or IM glucagon ( up to 25kg = 500mcg, > 25kg = 1mg) ## Footnote Source: https://bnf.nice.org.uk/treatment-summaries/medical-emergencies-in-the-community/#hypoglycaemia

Answer 220

Chronic hyperglycemia = damage to vascular endothelial cells, immunosuppression and optimal environment for infectious organisms MAcrovascular complications - Coronary artery disease - major cause of death - Peripheral ischaemia = poor healing, ulcers and diabetic foot - Stroke - HTN Microvascular complications - Peripheral neuropathy - Retinopathy - Renal disease particularly glomerulosclerosis (scarring of glomerulus)

Answer 221

- HbA1c - glycated haemoglobin - every 3 - 6 months - Capillary blood glucose - immediate result via glucose meter - Flash glucose monitoring (e.g. FreeStyle Libre) - measures glucose level in interstitial fluid, 5 minute lag behind blood glucose

Answer 222

DKA occurs in type 1 diabetes when the person is not producing insulin and not injecting enough insulin. The body cannot use and process glucose, therefore the cells are starvinig and undergo ketogenesis to produce an alternate fuel. Eventually ketone and glucose levels keep increasing Initially the kidneys compensate by producing bicarbonate to buffer the ketone acids. Over time, the ketone acid use up the bicarbonate and the blood becomes acidic - this is ketoacidosis

Answer 223

- Dehydration due to hyperglycemia, the high levels of glucose in the body filters out through the kidney which draws water with it through osmotic diuresis - causes polyuria and polydipsia - Potassium imbalance - insulin drives potassium into cells. Blood K is normal or high in DKA but total body K is low as not stored in cells

Answer 224

Symptoms of the underlying hyperglycaemia, dehydration and acidosis: - Polyuria - Polydipsia - Nausea and vomiting - Weight loss - Dehydration and subsequent hypotension - Altered consciousness - Symptoms of an underlying trigger (i.e. sepsis)

Answer 225

- Check hospital criteria - Hyperglycaemia (i.e. blood glucose > 11 mmol/l) - Ketosis (i.e. blood ketones > 3 mmol/l) - Acidosis (i.e. pH < 7.3)

Answer 226

- Dehydration, potassium imbalance and acidosis kills the paitent! - Priority is fluid resus to correct the above - BUT rapid IV fluids = cerebral oedema! SO initial 0.9% NaCl bolus 10ml/kg over 30 mins then maintanance and replacement fluid over 48 hours - GIve fixed rate insulin infusion (0.05-0.1 units/kg/hr) - allows cells to take up glucose and prevents ketone production - IV dextrose once BM < 14mmol/L - Add potassium to IV fluids (40mmol/L) and monitor levels - Treat underlying cause

Answer 227

A syndrome that occurs when an infection causes a child to become systemically unwell. It results from severe systemic inflammatory response - life-threatening! Low-threshold for treating suspected sepsis!

Answer 228

1. Pathogens enter bloodstream 2. Recognition by WBCs that release cytokines e.g. interleukins, TNF 3. Vasodilation, leaky capillary and blood clotting 4. Organs are not adequately perfused as blood is drawn into the extracellular space and used in clots, consumption of platelets and clotting factors also lead to disseminated intravascular coagulopathy 5. Blood lactate rises as hypo-perfused organs undergo anaerobic respiration which produces lactate 6. Septic shock - when sepsis leads to cardiovascular dysfunction, fall in systolic BP

Answer 229

- Aggressive IV fluids to improve BP, reduce lactate and tissue perfusion - If not effective, step up to high dependency or ICU

Answer 230

- Deranged physical observations - Prolonged capillary refill time (CRT) - Fever or hypothermia - Deranged behaviour - Poor feeding - Inconsolable or high pitched crying - High pitched or weak cry - Reduced consciousness - Reduced body tone (floppy) - Skin colour changes (cyanosis, mottled pale or ashen)

Answer 231

If under 3 months with temperature 38C or above

Answer 232

NICE guidelines: https://cks.nice.org.uk/topics/sepsis/diagnosis/risk-stratification/ Traffic system: green (low), amber, red (high) Patients categorised based on examination in various systems - Colour - normal vs cyanosis, pale, ashen - Activity - active happy responsive vs abnormal, drowsy or abnormal cry - Respiratory - normal vs respiratory distress, tachypnoea or grunting - Circulation and hydration - normal skin and moist membranes vs tachy, dry membranes

Answer 233

Emergency! Call for senior help early for experienced support! 1) GIve high-flow oxygen (15L 100% as standard) 2) Obtain IV/IO access and take bloods (FBC, U+E, CRP, clotting, blood gas for lactate and acidosis, cultures) 3) GIve abx within 1 hr of presentation 4) IV fluids - 10ml/kg IV bolus saline if shock or lactate above 2mmol/L

Answer 234

- CXR - if pneumonia suspected - LP if meningitis suspected - Meningococcal PCR if meningococcal disease suspected - Once bacterial cause idenitified, culture and sensitivities can guide abx use, seek microbiologist advice - Continue abx for 5 - 7 days after

Answer 235

Inflammation of the meninges, the membrane lining the brain and spinal cord

Answer 236

Neonates: group B streptococcus (GBS) Older children: - Neisseria meningitidis (meningococcus) - Streptococcus pneumoniae (pneumococcus)

Answer 237

Meningococcal infection in the blood - causing "non-blanching rash"

Answer 238

- Fever - Neck stiffness - Photophobia - Meningococcal septicaemia - non-blanching rash Non-specific features: - Bulging fontanelle - Hypotonia - Poor feeding - Drowsiness - Hypothermia

Answer 239

- Kernig's test - lie flat on back, flex hip and knee at 90, straighten one knee at a time, pain/resistance = positive - Brudzinski's test - lie flat on back, lift patient's neck and head off bed flexing chin to chest, if hips and knees flex = positive

Answer 240

- Lumbar puncture for CSF analysis - Blood culture - Meningococcal PCR if meningococcal disease suspected

Answer 241

- <1 month with fever - 1 to 3 months with fever and are unwell - < 1 year with unexplained fever and other features of serious illness

Answer 242

- Urgent stat injection (IM or IV) of benzylpenicillin then transfer urgently to hospital

Answer 243

- Ideally LP and CSF analysis prior to abx but DO NOT delay treatment if patient is acutely unwell Follow local antibiotics guidelines, typically: - Under 3 months – cefotaxime + amoxicillin ( to cover listeria contracted during pregnancy) - Above 3 months – ceftriaxone - Steroids (dexamethasone) to prevent hearing loss and neurological damage - Notify public health

Answer 244

- Herpes simplex virus (HSV) - Enterovirus - Varicella zoster virus (VZV)

Answer 245

- Appearance: cloudy - Protein: high - Glucose: low (<50% plasma glucose) - White Cell Count: high (neutrophils) - 10 - 5000 neutrophils/mm3 - Culture: bacteria

Answer 246

- Appearance: clear - Protein: normal/mildly raised - Glucose: high (60 - 80% of plasma) - WCC: high (lymphocytes) - 15 - 1000 lymphocytes/mm3 - Culture: negative

Answer 247

A single dose of ciprofloxacin 500mg PO asap, and within 24 hours of exposure

Answer 248

- Upper respiratory tract infection caused by Bordetella pertussis (a gram-negative bacteria). - The whooping is caused by the forced inhalation of air after severe cough fits making a loud "whooping" noise - Children and pregnant women are vaccinated against pertussis.

Answer 249

- Starts with mild coryzal symptoms, low-grade fever and mild dry cough - After a week, severe cough fits start with cough-free periods in between - paroxysmal cough. - Cough fits keep building until patient is out of breath and the forced sucking of air causes loud whooping sound. - Coughing fits so severe = faint, vomit or even develop a pneumothorax Not everyone will whoop, and some infants might develop aponea instead of cough

Answer 250

- Nasopharyngeal or nasal swab with PCR testing or bacterial culture - Cough > 2 weeks = anti-pertussis toxin immunoglobin G test - oral fluids of 5 - 16, and bloods in 17 and older

Answer 251

Pertussis is a notifiable disease to UK Health Security Agency (UKHSA) - Usually supportive management, stay off school/work until 48hr after abx, and 14 days (21 days for high-risk work) from onset of cough - Acutely unwell with apnoea, cyanosis, severe coughing fits or < 6m = admission - Macrolide antibiotics such as clarithromycin, co-trimoxazole if onset within 14 days or 21 days if contact with vulnerable infants - Prophylactic antibodies for vulnerable close contacts - e.g. pregnant women >32 weeks (erythromycin) or unvaccinated infants - Key complication = bronchiectasis.

Answer 252

Poor physical growth and development in a child

Answer 253

Fall in weight across: - One or more centile spaces if birth weight below 9th centile - Two or more centile spaces if their birth weight 9th - 91 st centile Three or more centile spaces if birth weight above 91st centile

Answer 254

- Inadequate nutritional intake (e.g. parental neglect, poverty) - Difficulty feeding (poor suck, pyloric stenosis) - Malabsorption (e.g. coeliac) - Increased energy requirements (e.g. hyperthyroidism) - Inability to process nutrition (T1DM) - Undiagnosed UTI

Answer 255

A full history, examining the child and completing relevant investigations. Key areas: - Pregnancy, birth, developmental and social history - Feeding history - breast/bottle feeding times, volume and frequency and any difficulties with feeding. - Eating history - food choices, food aversion, mealtime routines and appetite - Observe feeding - Mum's physical and mental health - Parent-child interactions - Height, weight and BMI (if > 2 years) and plotting these on a growth chart - Mid (mean)-parental height centile

Answer 256

- Height > 2 centile spaces below mid-parental height centile - BMI below the 2nd centile

Answer 257

NICE recommends the following initial investigations: - Urine dipstick - UTI - Coeliac screen (anti-TTG or anti-EMA antibodies)

Answer 258

- MDT - Faltering growth: regular reviews to monitor weight gain - Difficulties with breastfeeding: advice from midwives, lactation consultants, supplement with formula milk Inadequate nutrition: - Structured mealtimes - Reduced milk consumption - Energy-dense foods - Nutritional supplement drinks

Answer 259

Safeguarding involves all aspects of ensuring the welfare of a child. Legal framework = Children Act 1989

Answer 260

The process of protecting a child that is at risk of or suffering harm.

Answer 261

- Physical - Emotional - Sexual - Neglect - Financial - Identity

Answer 262

Not limited to the list below, talk to senior or safeguarding lead if in doubt: - Change in behaviour or extreme emotional states - Dissociative disorders - Bullying, self-harm or suicidal behaviours - Unusually sexualised behaviours - Poor hygiene - Poor physical or emotional development - Missing appointments or not complying with treatments

Answer 263

- Report concerns to the safeguarding lead, each NHS organisation should have one - Safeguarding lead will escalate further - Generally escalated to the children's services (social services) who can investigate further and decide further action - Usually social services will put in extra support for the family - If child is in immediate danger = police - Acutely unwell or need a place of safety = hospital admission Maintaining a professional, open, honest and trusting relationship with parents or carers is important, even when they are responsible for the abuse. This will make all aspects of any investigation and management easier, and lead to better outcomes. Extra support for parents - Home visit programmes to support parents - Parenting programmes - Attachment-based interventions to help bonding and nurturing - Child–parent psychotherapy - Multi-systemic therapy for child abuse and neglect (MST-CAN) - CBT for children who suffered abuse

Answer 264

- Peripheral cyanosis (blueness of the hands and feet) may occur when a child is cold or unwell - Central cyanosis - slate blue tongue blue colour, fall in arterial blood oxygen tension. - Persistent cyanosis in an otherwise well infant is sign of structural heart disease.

Answer 265

Cyanosis in a newborn infant with respiratory distress (respiratory rate >60 breaths/min) may be due to: - Cyanotic congenital heart disease - Respiratory distress syndrome (surfactant deficiency) - Infection–GBS septicaemia

Answer 266

Congenital heart disease - 1st line: CXR + ECG - Diagnostic: echocardiography + doppler studies

Answer 267

Chronic neurological disorder, characterised by recurrent unprovoked seizures, consisting of transient signs and/or symptoms associated with abnormal, excessive or synchronous neuronal activity in the brain Focal: Discharge arises from one or part of one hemisphere Generalised: Discharge arises from both hemispheres

Answer 268

- Generalised tonic-clonic - tonic (muscle tensing) and clonic (muscle jerking) - Focal - starts in temporal lobe and causes focal neurological deficits - Absence seizures - patient blanks and stares into space for 10 -20 secs - Atonic - brief lapses of muscle tone, lasts around 3 mins - Myoclonic - sudden brief muscle contraction, causing sudden jerks

Answer 269

Depends which area of the brain is affected (covered in more detail in neurology) They start in the temporal lobes - Hallucinations - Memory flashbacks - Déjà vu - Doing strange things on autopilot

Answer 270

- Detailed history - Electroencephalogram (EEG) - after second simple tonic-clonic seizure - MRI in first seizure is in children under 2 years, focal seizures, 1st line meds ineffective Consider: - ECG - Electrolytes - sodium, potassium, calcium and magasium - Blood glucose - Blood cultures, urine cultures and LP if sepsis or meningitis suspected

Answer 271

Important to avoid situations where a seizure might endanger the child - Showers rather than baths - Be very cautious with swimming unless seizures are well controlled and they are closely supervised - Be cautious with heights - Be cautious with traffic - Be cautious with any heavy, hot or electrical equipment - Older teens need to avoid driving unless specific criteria are met e.g. must be seizure-free for ≥12m before bring allowed to drive in an unaware seizure

Answer 272

- Teratogenic! Avoided in women of child-bearing age unless no alternative and strict criteria to ensure they do not get pregnant - Liver damage and hepatitis - Hair loss - Tremor

Answer 273

1st line: sodium valproate 2nd line: lamotrigine or carbamazepine

Answer 274

First line: carbamazepine or lamotrigine Second line: sodium valproate or levetiracetam

Answer 275

Seizure associated with fever in the absence of another cause or intracranial infection Age group: Between 6 months and 5 years Occur early in an infection when temperature rises rapidly Brief generalized tonic-clonic (<5 min)

Answer 276

- Generalised, tonic clonic seizures that last < 15 mins and occur only once during a febrile illness

Answer 277

- Febrile convulsions are complex when they consist of focal seizures, last 15 - 30 mins, or occur multiple times during a febrile illness - Increased risk of epilepsy (4 - 12%, 1 - 2 % in gen pop)

Answer 278

- Epilepsy - Meningitis, encephalitis - Intracranial space occupying lesions, for example brain tumours or intracranial haemorrhage - Trauma (always think about non accidental injury

Answer 279

- Diagnosis of exclusion - Infection screen: blood and urine cultures and LP - If child is unconcious or haemodynamically unstable = DO NOT DELAY ABX - Typical presentation = child around 18m with tonic-clonic seizure during high fever - Usually caused by viral or bacterial infection

Answer 280

Admit to paediatrics if: - First seizure - Features of a complex seizure All cases - Identify and manage the underlying source of infection - Control the fever with simple analgesia (Eg. Calpol) Education on what to do in a future episode: - Stay with the child - Put the child in a safe place e.g. carpeted floor - Recovery position, don’t put anything in their mouth - Rescue therapy with rectal diazepam or buccal midazolam If seizure > 5 mins = ambulance

Answer 281

- Usually no lasting damage, but 1 in 3 will have another febrile convulsion

Answer 282

- Gross motor - Vision and fine motor (vision needed for fine motor) - Hearing, speech and language - Social, emotional and behavioural.

Answer 283

Limit ages are the age by which the developmental milestones should have been achieved. Limit ages are usually 2SDs from the mean.

Answer 284

From the head to toe development - 2 months : raise head to 45 degrees in prone - 4 months: able to support own head - 6 months: They can keep their trunk supported on their pelvis, but often don’t have the balance to sit unsupported - 9 months: sit unsupported, crawl, maintain standing position and bounce when supported - 12 months: They should stand and begin cruising (walking whilst holding onto furniture). - 15 months: Walk unaided. - 18 months: Squat and pick things up from the floor. - 2 years: Run. Kick a ball. - 3 years: Climb stairs one foot at a time. Stand on one leg for a few seconds. Ride a tricycle. 4 years: Hop. Climb and descend stairs like an adult.

Answer 285

Expressive language milestones: - 3 months: Cooing noises - 6 months: Makes noises with consonants (starting with g, b and p) - 9 months: Babbles, sounding more like talking but not saying any recognisable words - 12 months: Says single words in context, e.g. “Dad-da” or “Hi” - 18 months: Has around 5 – 10 words - 2 years: Combines 2 words. Around 50+ words total. - 2.5 years: Combines 3 – 4 words - 3 years: Using basic sentences - 4 years: Tells stories Receptive language milestones: - 3 months: Recognises parents and familiar voices and gets comfort from these - 6 months: Responds to tone of voice - 9 months: Listens to speech - 12 months: Follows very simple instructions 18 months: Understands nouns, for example “show me the spoon” - 2 years: Understands verbs, for example “show me what you eat with” - 2.5 years: Understands propositions (plan of action), for example “put the spoon on/under the step” - 3 years: Understands adjectives, for example “show me the red brick” and “which one of these is bigger?” - 4 years: Follows complex instructions, for example “pick the spoon up, put it under the carpet and go to mummy”

Answer 286

Early Milestones: 8 weeks: Fixes their eyes on an object 30 centimetres in front of them and makes an attempt to follow it. They show a preference for a face rather than an inanimate object. 6 months: Palmar grasp of objects (wraps thumb and fingers around the object). 9 months: Scissor grasp of objects (squashes it between thumb and forefinger). 12 months: Pincer grasp 14-18 months: They can clumsily use a spoon to bring food from a bowl to their mouth.

Answer 287

When a child displays slow development in all developmental domains - gross motor, vision and fine motor, hearing and speech, language and cognition, social/emotional and behaviour.

Answer 288

- Down’s syndrome - Fetal alcohol syndrome - Fragile X

Answer 289

Delay in acquiring skills in the gross motor domain such as: sitting, crawling walking unaided, running, climbing etc.

Answer 290

- Cerebral palsy - Ataxia - Spina bifida - Visual impairment

Answer 291

Delay in acquiring skills in the fine motor domain such as grasping objects, drawing, writing

Answer 292

Expressive language: cooing, babbling, words, sentences Receptive language: understanding, responding

Answer 293

- Social circumstance - e.g. multiple languages - Hearing impairment - Learning disability - Neglect - Autism - Cerebral palsy

Answer 294

- Referral to speech and language, audiology and the health visitor. - Safeguarding if neglect is a concern

Answer 295

Personal and social refers to the child’s development of skills in interacting, communicating, playing and building relationships

Answer 296

- Lost/ regression of developmental milestones - Not able to hold an object at 5 months - Not sitting unsupported at 12 months - Not walking independently at 18 months - Not running at 2.5 years - No words at 18 months - No interest in others at 18 months - Strong parental concerns

Answer 297

Emotional and social neglect Parenting issues Autism

Answer 298

A neurodevelopmental condition characterised by difficulty maintaining attention, excessive energy and activity and implusivity. - Genetic (sigificant heritability) - Pregnancy related - smoking, premature and low birth weight - Environmental factors

Answer 299

- Short attention span - Easily distracted - Quickly moving between tasks - Quickly losing interest in tasks - Inability to persistent and complete tasks - Constantly fidgeting/moving - Disruptive behaviour - Difficulties managing time Adult ADHD Self Reprt Scale (ASRS) = screening test to support referral

Answer 300

- Detailed assessment by a specialist - Management by a specialist - Parental and child education - strategies to manage child: positive approach, routine, clear boundaries - Healthy diet and exercise can improve symptoms e.g. some food colourings can exacerbate symptoms Medications (CNS stimulants) , need to be managed by a specialist: - Methylphenidate (“Ritalin“) - Dexamfetamine - Atomoxetine

Answer 301

It is a neurodevelopmental condition characterised by a deficit in social interaction, communication and flexible behaviour. It encompasses a huge range of behaviours. Ranges from normal intelligence with difficulties with reading emotions and responding to severe learning disabilities and deficits in self-care.

Answer 302

Wide range of features which vary between individuals, categorised as followed: Social interaction - Lack of eye contact - Avoiding physical contact - Unable to read non-verbal cues Difficulties making and keeping friends - Not displaying desire to share (e.g. not playing with others) Communication - Delay, absence or regression in language development - Lack of appropriate non verbal communication - Difficulties with imagination or imitation - Repetitive words or phrases Behaviour - Intensive and deep interests that are persistent and rigid - Self-stimulating behaviours e.g. hand-flapping, rocking - Repetitive behaviour and fixed routines - Anxiety and distress with experiences outside their normal routine - Extremely restricted food preferences

Answer 303

- Made by a specialist e.g. paediatric psychiatrist - Detailed history and assessment of child's behaviour and social communication - A diagnosis can be made before 3 years old

Answer 304

- Depends on the severity of the condition MDT: - Child psychology and child and adolescent psychiatry (CAMHS) - Speech and language specialists - Dietician - Paediatrician - Social workers - SEN support - Charities e.g. national autistic society

Answer 305

AN is a psychriastic conditon where the person feel they are overweight despite evidence of normal or low body weight. It involves obsessively restricting calorie intake or excessive exercise.

Answer 306

- Excessive weight loss - Amenorrhoea - Lanugo hair - Hypokalaemia - Hypotension - Hypothermia - Changes in mood, anxiety and depression - Solitude Cardiac complications: arrhythmia, atrophy and sudden cardiac death.

Answer 307

Unlike with anorexia, people with bulimia often have a normal body weight. Their body weight tends to fluctuate. Involves cycles of binge eating and then purging by vomiting or taking laxatives.

Answer 308

- Alkalosis, due to vomiting hydrochloric acid - Hypokalaemia - Erosion of teeth - Swollen salivary glands - Mouth ulcers - Gastro-oesophageal reflux and irritation - Russell's sign - calluses on knuckles from being scraped across teeth

Answer 309

Characterised by episodes of excessive eating, often as a result of psychological distress. Not a restrictive disorder and patients are usually overweight Binges may involve: - A planned binge involving “binge foods” - Eating very quickly - Unrelated to hunger - Becoming uncomfortably full - Eating in a “dazed state”

Answer 310

Restrictive eating disorders show: - Anaemia - Leukopenia - Thrombocytopenia - Due to reduced bone marrow activity - Hypokalaemia (vomiting or excessive laxatives)

Answer 311

- Patient and carer education Management focuses on behaviour and environmental changes - Self help resource - Counselling - Cognitive behavioural therapy (CBT) - Addressing other areas of life, such as relationships and past experiences - Severe cases might need admission, and close monitoring for refeeding syndrome

Answer 312

Refeeding syndrome occurs in people that have been in a severe nutritional deficit when they start to eat again. When cells receive glucose, protein and fat again, they use up electrolytes leading to: - Hypomagnesaemia - Hypokalaemia - Hypophosphatemia Risks of cardiac arrhythmias, heart failure and fluid overload.

Answer 313

Depends on local protocol under specialist supervision: - Slowly reintroducing food with restricted calories - Magnesium, potassium, phosphate and glucose monitoring along with other routine bloods - Fluid balance monitoring - Supplements with B vitamins and thiamine

Answer 314

Cancer of a particular line of stem cells in the bone marrow. Haroon says only Acute lymphoblastic leukaemia (ALL) - accounts for 80% of leukaemia in children

Answer 315

Abnormal rapid proliferation of lymphoblasts - the precursor cells to lymphocytes Peak is 2 - 5 years old

Answer 316

Genetic mutation in one of the precursor cells in bone marrow leads to excessive production of a single type of abnormal white blood cell. Suppression of other cell lines, underproduction of other cell types Result = pancytopenia, low: - Red blood cells (anaemia), - White blood cells (leukopenia) - Platelets (thrombocytopenia)

Answer 317

- Radiation exposure - abdominal x-ray during pregnancy is main environmental risk factor - Down’s syndrome

Answer 318

Non-specific - Persistent fatigue - Unexplained fever - Failure to thrive - Weight loss - Night sweats - Pallor (anaemia) - Petechiae (non-blanching spots < 2mm) - Abnormal bruising (thrombocytopenia) - Unexplained bleeding (thrombocytopenia) - Generalised lymphadenopathy - Unexplained or persistent bone or joint pain - Hepatosplenomegaly

Answer 319

- NICE recommend to refer any child with unexplained petechiae or hepatomegaly for specialist assessment - FBC within 48 hours - pancytopenia + large amount of abnormal WBCs - Blood film - blast cells - Bone marrow and lymph node biopsy

Answer 320

Main treatment: chemotherapy Other treatments - Radiotherapy - Bone marrow transplant - Surgery

Answer 321

ALL cure rate = 80%

Answer 322

A type of cancer affecting lymphocytes inside the lymphatic system. Cancer cells proliferate inside lymph nodes = lymphadenopathy - Hodgkin's (common in adolescence) - Non-Hodgkin's (common in childhood)

Answer 323

Classically painless cervical lymphadenopathy in the neck, clinical history usually several months Can also be axillary or ingunial B-symptoms - pruritus, night sweats, weight loss and fever are uncommon

Answer 324

- Lymph node biopsy - Reed-Sternberg cells (owls eye nuclei) - CT/MRI/PET and bone marrow biopsy to stage disease

Answer 325

Combination chemo (multiple drugs) +/- radiotherapy (same for NHL) A – Doxorubicin (docs-oh-roo-bi-sin) also called Adriamycin B – Bleomycin (blee-oh-my-cin) V – Vinblastine (vin-blas-teen) D – Dacarbazine (da-kar-ba-zeen) Positron emission tomography (PET) scan to monitor treatment response

Answer 326

- Enlarging node without clear infective cause - Persistently enlarged node - Unusual site e.g. supraclavicular - Associated fever, weight loss, enlarged liver/spleen - If CXR abnormal (From lecture)

Answer 327

Cancer of the lymphatic system that histologically do not have Reed-Sternberg cells present. Can either be T-cell or B-cell malignancy

Answer 328

- T-cell malignancies - mediastinal mass (between the lungs) with varying degrees of bone marrow infiltration. - Can lead to SVC obstruction - dyspnoea, facial swelling and flushing, and venous distention in the neck - B-cell malignancies - painless lymphadenopathy in neck, throat, armpit or groin - Abdominal pain if abdominal disease from obstruction

Answer 329

Biopsy, CT or MRI of nodal sites and examination of bone marrow and CSF analysis

Answer 330

Multiagent chemotherapy, survival 80% now!

Answer 331

Diagnostic testing - testing fetus or person for genetic condition e.g. amniocentesis for Down's syndrome Predictive testing - specific gene mutation e.g. BRCA1 breast cancer Carrier testing - testing parents for gene for a specific autosomal recessive condition Make sure the patient gives their informed consent as test results can have life-changing implications

Answer 332

Karyotyping - looks at number of chromosomes, size and structure - helps to diagnose Down's (trisomy 21) or Turner's syndrome (45 XO) Microarray Testing - lysing genetic material using enzymes, then tested for by plating it and comparing it to a known gene of certain size e.g. for cystic fibrosis Specific Gene Testing - Double stranded DNA is split - Gene probe made of complementary DNA for the specific gene you want to test for. - If the specific gene is present, they will bind to the gene probe - Used to confirm whether a patient has a particular gene

Answer 333

A condition caused by an extra copy of chromosome 21 - trisomy 21. Associated with dysmorphic features and a number of other conditions e.g. VSD and increased risk of ALL

Answer 334

- Hypotonia (reduced muscle tone) - Brachycephaly (small head with a flat back) - Short neck - Short stature - Flattened face and nose - Prominent epicanthic folds - Upward sloping palpebral fissures (upslanting eyes) - Single palmar crease

Answer 335

- Learning disability - Recurrent otitis media - Deafness. - Eustachian tube abnormalities = glue ear and conductive hearing loss. - Visual problems such as myopia (nearsightedness), and cataracts - Cardiac defects affect 1 in 3, particularly ASD, VSD, patent ductus arteriosus and tetralogy of Fallot Increased risk of: - Leukaemia - Dementia

Answer 336

All women offered screening to see.if more invasive produces needed to confirm diagnosis 1st line: combined test: 11 - 14 weeks gestation - USS and maternal blood test Ultrasound measures nuchal translucency - the thickness of the back of the neck of the fetus, > 6mm = Down's syndrome Maternal blood tests: - Beta‑human chorionic gonadotrophin (beta-HCG), higher result = greater risk. - Pregnancy‑associated plasma protein‑A (PAPPA), lower = greater risk. Quadruple Test: 14 - 20 weeks gestation. - Beta-HCG - Inhibin A, higher = greater risk - Alpha-fetoprotein (AFP), lower = greater risk - Serum oestriol (female sex hormone), lower = greater risk Same as triple test but includes inhibin-A, higher = greater risk

Answer 337

If risk score is > 1 in 150 from screening, then offered amniocentesis or chorionic villus sampling. Chorionic villus sampling (CVS) - ultrasound-guided biopsy of placental tissue (< 15w) Amniocentesis involves ultrasound-guided aspiration of some amniotic fluid Non-Invasive Prenatal Testing (NIPT) = relatively new abnormalities test. Analyses maternal blood sample which contains fetal DNA to check for conditions such as Down's Syndrome

Answer 338

Supportive care from MDT - Occupational therapy - Speech and language therapy - Physiotherapy - Dietician - Paediatrician - GP - Health visitors - Cardiologist - ENT specialist - Audiologist for hearing aids - Optician for glasses - Social services for social care and benefits - Educational needs support - Charities such as the Down’s Syndrome Association

Answer 339

When asked by the examiner about management of a complex multi-system disorder such as Down's syndrome, start answer with "management would involve members of the multidisciplinary team" - picks up most of the marks

Answer 340

- Regular thyroid checks (2 yearly) - Echocardiogram - Regular audiometry - Regular eye checks

Answer 341

Klinefelter syndrome occurs when a male has an additional X chromosome, making them 47 XXY. Rarely 48 XXXY or 49 XXXXY - more severe features

Answer 342

Normal male until puberty, then develop indictive features - Taller height - Wider hips - Gynaecomastia - Weaker muscles - Hypogonadism with small testicles - Reduced libido - Shyness - Infertility - Subtle learning difficulties (particularly affecting speech and language)

Answer 343

- Testosterone injections - Advanced IVF techniques - Breast reduction surgery Multidisciplinary team input: - Speech and language therapy - Occupational therapy - Physiotherapy - Educational support if dyslexia or learning disabilities

Answer 344

Life expectancy is close to normal. There is a slight increased risk of: - Breast cancer compared with other males (but still less than females) - Osteoporosis - Diabetes - Anxiety and depression

Answer 345

When a female only has one X chromosome instead of the normal 2 - so 45XO Classic triad to remember for exams: - Short stature - Wedded or thick neck - Widely spaced nipples Others - - Cubitus valgus - abnormality of the elbow, arms extended with palms facing forward - Underdeveloped ovaries - Late or incomplete puberty - Most women are infertile

Answer 346

- Recurrent otitis media - Recurrent UTI - Coarctation of the aorta - Hypothyroidism - Hypertension - Obesity - Diabetes - Osteoporosis - Specific learning disabilities

Answer 347

- Growth hormone therapy for short stature - Oestrogen and progesterone replacement for female secondary sex characteristics, regulate the menstrual cycle and prevent osteoporosis - Fertility treatment - Regular monitoring - Control associated conditions such as hypertension and hypothyroidism

Answer 348

Trisomy 18

Answer 349

Trisomy 13

Answer 350

Affected fetuses are detected during antenatal scans, and the diagnosis is confirmed by amniocentesis and chromosomal analysis Or non-invasive prenatal testing (NIPT) can be used

Answer 351

- Full: death in utero or shortly after birth - Partial or moasic effects harder to predict - Low birthweight - Prominent occiput - Small-mouth and chin - Short sternum - Flexed, overlapping fingers - ‘Rocker-bottom’ feet - Cardiac and renal malformations

Answer 352

- Full form = life-limiting - Moasiac or partial form = less severe features - Learning disability - Rocker bottom feet - Structural defect of the brain - Scalp defects - Small eyes (microphthalmia) - Cleft lip and palate - Polydactyly - Cardiac and renal malformations.

Answer 353

- Genes carried on the X chromosome - Females are carriers, 50% of sons are affected, 50% of daughters are carriers. - All daughters of affected males are carriers. - None of the offspring of affected males have the disorder. - Possibility of new mutations.

Answer 354

Caused by mutation in the FMR1 (fragile X mental retardation 1) gene on the X chromosome. Codes for fragile X mental retardation protein, which plays a role in cognitive development in the brain

Answer 355

- It is X-linked, but whether it is dominant or recessive is unclear. - Males are always affected, but females vary in how severely they are affected. - Females have a spare normal copy of the FMR1 gene on their other X chromosome. - De novo (random) mutation are possible

Answer 356

- Speech and language delay - Intellectual disability (average IQ 50) - Long, narrow face - Large ears - Large testicles after puberty - Hypermobile joints (particularly in the hands) - ADHD - Autism - Seizures

Answer 357

MDT for supportive treatment - Learning disability - Seizures - ADHD - Autism

Answer 358

A genetic condition caused by the loss of functional genes on the proximal arm of chromosome 15 inherited from the father. Deletion of that portion of the chromosome or both copies of chromosome 15 are inherited from the mother.

Answer 359

- Constant insatiable hunger that leads to obesity - Poor muscle tone as an infant (hypotonia) - Mild-moderate learning disability - Hypogonadism - Fairer, soft skin that is prone to bruising - Mental health problems, particularly anxiety - Narrow forehead - Almond-shaped eyes - Strabismus (squint) - Thin upper lip

Answer 360

Under dietician guidance - Carefully limiting access to food with locks on cupboards and fridges - Lower than normal calorie intake - Education to teachers, carers and relatives. Growth hormone = treatment recommended by NICE, improves muscle development, body composition and obesity MDT: - Dietician - Education support - Social workers - Psychologists or psychiatrists - Physiotherapists - Occupational therapists

Answer 361

A genetic syndrome caused by loss of function or expression of the UBE3A gene on chromosome 15, specifically the copy inherited from the mother - only that copy works. Results from: - Maternal deletion of the gene - Mutation in maternal copy of the gene - Both genes inherited from the father

Answer 362

Main features: - Unusual fascination with water - Happy demeanour - Widely spaced teeth Other features: - Delayed development and learning disability - Severe delay or absence of speech development - Ataxia

Answer 363

MDT to support patient and family - Parental education - Social services and support - Educational support - Physiotherapy - Occupational therapy - Psychology - CAMHS - Anti-epileptic medication where required

Answer 364

Genetic condition caused by deletion on one copy of chromosome 7. Results in only a single copy of the gene on deleted region Usually occurs spontaneous deletion around conception rather than inherited

Answer 365

Characteristic features - Very sociable personality - Starbust eyes (star-like pattern on the iris) - Wide mouth with big smile

Answer 366

- Supravalvular aortic stenosis (narrowing just above the aortic valve) - ADHD - Anxiety - Hypertension (often due to renal artery stenosis) - Hypercalcaemia (particularly in infancy and early childhood) Easy to test in exams

Answer 367

MDT approach to support patient and family - Echocardiograms and blood pressure monitoring are important to assess for aortic stenosis and hypertension. Low-calcium diet and avoid vitamin D and calcium supplement to control hypercalcaemia

Answer 368

The urinary tract includes the urethra, bladder, ureters and kidneys. Urinary tract infections are infections anywhere along this pathway.

Answer 369

K - Klebsiella E - E.coli (most common) P - Proteus (most in boys as found under foreskin) P - Pseudomonas S- Streptococcus faecalis

Answer 370

Fever - sometimes the only symptom, especially in young children. Babies might present with non-specific symptoms: - Fever - Lethargy - Irritability - Vomiting - Poor feeding - Urinary frequency More specific in older children: - Fever - Abdominal pain - suprapubic - Vomiting - Dysuria - Urinary frequency - Incontinence

Answer 371

1st line: urine dipstick Ideally - clean-catch sample to avoid contamination and unreliable results Nitrites = gram-negative bacteria (such as E. coli) break down nitrates in urine into nitrites. Leukocytes = significant rise due to infection + inflammation If both present = UTI If only nitrite = treat as UTI as better indicator If only leukocytes = don't treat as UTI unless clinical evidence If nitrite or leukocytes present = send MSU to lab for culture and sensitivity testing

Answer 372

< 3 month with fever = immediate admission with IV abx (e.g. ceftriaxone), full septic screen with bloods, cultures and lactate > 3 months = oral abx if otherwise well for 3 days If sepsis or pyelonephritis = in-patient IV abx for 2-4 days then oral abx for 7 - 10 days Follow local guidelines, typical UTI abx in children: - Trimethoprim - Nitrofurantoin - Amoxicillin

Answer 373

Investigate for underlying cause and kidney damage - Abdominal ultrasound scans if reccurent or atypical - DMSA (Dimercaptosuccinic Acid) Scan 4 - 6 months after illness to assess the damage, DMSA (radioactive material) is injected and gamma camera assesses how kidneys take up dye. - Areas which have no dye = damage

Answer 374

- Seriously ill/Septicaemia - Poor urine flow - Abdominal mas - Raised creatinine - Failure to respond to Abx within 48 hours - Infection with non E coli organism

Answer 375

- Where urine has a tendency to flow from the bladder back into the ureters. This predisposes patients to develop upper urinary tract infection

Answer 376

Micturating cystourethrogram (MCUG). When there is atypical or recurrent UTIs in < 6m or FHx of vesico-ureteric reflux: 1. Catheterisation 2. Contrast injected into bladder 3. Imaging to determine whether contrast is refluxing into ureters Prophylactic abx 3 days up to Ix

Answer 377

Depends on severity - Avoid constipation - Avoid an excessively full bladder - Prophylactic antibiotics - Surgical input from paediatric urology

Answer 378

Acute pyelonephritis is when the infection affects the tissue of the kidney. It can lead to scarring in the tissue and consequently a reduction in kidney function.

Answer 379

Along with the clinical features seen in UTI, the diagnosis of acute pyelonephritis is made if either there is: - A temperature greater than 38°C - Loin pain or tenderness

Answer 380

Involuntary urination at night - i.e. bed-wetting Most children can remain dry at night by 3-4

Answer 381

Inability to control bladder during the day, most children gain control of daytime urination by 2 years old

Answer 382

This is where the child has never managed to remain consistently dry ar night

Answer 383

Most common - Varation in normal development, particularly if younger than 5 - Family history Other causes - Overactive bladder - Fluid intake before bed - Psychological distress - e.g. pressures at school - Secondary - chronic constipation, UTI, learning disability

Answer 384

- Initially - 2-week diary of toileting, fluid intake and bedwetting episodes to see patterns and areas for change - Reassurance for parents if child is < 5 that it will likely resolve without treatment - Reduce evening fluid intake, easy access to loo - Encouragement and positive reinforcement e.g. star/sticker charts for agreed behaviours e.g. help change sheets, not for dry nights - Avoid punishment as it can be counterproductive - Enuresis alarms (prolonged use > 3m) - Desmopressin, a synthetic analogue of antidiuretic hormone

Answer 385

Where a child begins wetting the bed when they have previously been dry for at least 6 months. Indicator of underlying illness/maltreatment

Answer 386

- UTI - Constipation - Type 1 diabetes - New psychological problems e.g. stress at school - Abuse at home- consider safeguarding - especially if it is deliberate, parental punishment or unexplained Treat underlying causes or refer to secondary care for specialist management

Answer 387

Daytime incontinence, the child is dry at night but has episodes of urinary incontinence during the day.

Answer 388

More common in girls - Urge - overactive bladder with little warning before emptyinh - Stress - leakage caused by increased pressure on bladder e.g. coughing, laughing

Answer 389

A conditon that occurs when the glomerulus basement membrane becomes highly permeable to protein, allowing proteins to leak from the blood into the urine. Most common 2 and 5 years.

Answer 390

- Low serum albumin <25g/l - High urine protein content (>3+ protein on urine dipstick) - Oedema - Presents with frothy urine, generalised oedema (particularly periorbital on waking) and pallor.

Answer 391

- Deranged lipid profile, with high levels of cholesterol, triglycerides and LDLs - HTN - Hyper-coagulability

Answer 392

Minimal change disease (90%) - can occurs in otherwise healthy children with no risk factors.

Answer 393

- Renal biopsy and standard microscopy = no abnormalities - Urinalysis = small molecular weight proteins and hyaline casts.

Answer 394

- Corticosteroids (i.e. prednisolone). - Prognosis = good, but might reoccur.

Answer 395

Managed by experienced pediatrician and renal specialist - High dose steroids (i.e. prednisolone) - 4w then wean over 8w - Low salt diet - Diuretics - Albumin infusions if severe hypoalbuminaemia - Antibiotic prophylaxis if severe - 80% children respond to steroids = steroid sensitive - relapse likely - 20% steroid resistant - ACE inhibitors and immunosuppressants such as cyclosporine, rituximab

Answer 396

- Hypovolaemia - Thrombosis - anti-clotting proteins lost in urine and liver responds to low albumin by producing prothrombotic proteins - Infection - immunoglobulins leaked in urine - Acute or chronic renal failure - Relapse

Answer 397

Injury or damage to the kidney that can lead to acute renal failure - a sudden, reversible reduction in kidney function. Oliguria (<0.5 ml/kg/hr)

Answer 398

**Prerenal - mot common in children** Hypovolaemia: - gastroenteritis - sepsis - haemorrhage **Renal** Most common: haemolytic uraemic syndrome **Postrenal** Obstruction e.g. blocked catheter

Answer 399

Prerenal - Hypovolaemia so urgently corrected with fluid replacement and circulatory support to avoid acute tubular injury and necrosis Renal - Circulatory overload treated with fluid restriction and diuretic to increase urine output to balance sodium and water - HIgh-calorie, normal protein feed - Urgently treat metabolic acidosis, hyperkalaemia, and hyperphosphataemia Post-renal - Identify site of obstruction and relief by nephrostomy (bag + tube to drain urine from kidney) or bladder catheterization. Dialysis if above ineffective or severe metabolic acidosis

Answer 400

Haemolytic uraemic syndrome (HUS) involves thrombosis in small blood vessels throughout the body, usually triggered by Shiga toxins from either E. coli O157 (raw/undercooked ground meat) and Shigella (contaminated food/drink, infected person)

Answer 401

Mostly affects children after gastroenteritis episode. Antibiotics and anti-motility medication (e.g., loperamide) used to treat gastroenteritis increases risk

Answer 402

- Microangiopathic haemolytic anaemia (destruction of RBC in small vessels) - Acute kidney injury (damage by thrombi) - Thrombocytopenia (low platelets) as they are used up in clots

Answer 403

Gastroenteritis caysed by E.coli O157 or shigella DIarrhoea which turns bloody after 3 days Then HUS symptoms a week after diarrhoea onset: - Fever - Abdominal pain - Lethargy - Pallor - Reduced urine output (oliguria) - Haematuria - Hypertension - Bruising - Jaundice (due to haemolysis) - Confusion

Answer 404

Stool culture for causative organism. Medical emergency = hospital admission and treatment of: - Hypovolaemia (e.g., IV fluids) - Hypertension - Severe anaemia (e.g., blood transfusions) - Severe renal failure (e.g., haemodialysis) Self-limiting and most recover with good supportive care

Answer 405

Progressive loss of renal function due to numerous conditions. Familial and congenital conditions are more common than acquired in children.

Answer 406

Stage 1: eGFR >90 ml/min Stage 2: eGFR 60–89 ml/min Stsge 3: eGFR: 30–59 ml/min Stage 4: 15–29 ml/min Stage 5: <15 ml/min

Answer 407

- Renal dysplasia ± reflux - Obstructive uropathy - Glomerular disease - Congenital nephrotic syndrome

Answer 408

Typical asymptomatic until renal function < 1/3 of normal or stage 4. Often picked up on antenatal ultrasound: - Anorexia and lethargy - Polydipsia and polyuria - Faltering growth - HTN - Acute-on-chronic renal failure precipitated by infection/dehydration - Incidental finding of proteinuria

Answer 409

- Good protein intake and calorie supplements to maintain growth, nasogastric/gastrostomy feeding if required - Phosphate (milk products) restriction and activated vitamin D to prevent renal osteodystrophy - Bicarbonate supplements to prevent acidosis - Erythropoietin to prevent anaemia - Growth hormone - Dialysis and transplantation

Answer 410

Tumour arising from the neural crest tissue in the adrenal medulla and sympathetic nervous system. - Usually < 5 years of age - Good prognosis, 80% cure rate

Answer 411

- Abdominal mass usually adrenal in origin - but can anywhere along sympathetic chain from the neck to the pelvis - Pallor - Weight loss - Hepatomegaly - Bone pain - Limp

Answer 412

- Urinary catecholamine (e.g. adrenaline) - raised - Biopsy - Bone marrow sampling

Answer 413

- Surgery - often curative in local disease - Chemo, radiotherapy and surgery - metastatic disease - Prognosis for metastatic disease is poor

Answer 414

- Aka mucocutaneous lymph node syndrome. - Systemic, medium-sized vessel vasculitis. Typically children < 5 years. - No clear cause or trigger - More common in boys, particularly Japanese and Korean

Answer 415

- Persistent high fever >39 for more than 5 days - Unhappy and unwell - Widespread erythematous maculopapular rash (flat discoloured colour and raised bumps) and desquamation (skin peeling) on the palms and soles. Other features include: - Strawberry tongue (red tongue with large papillae) - Cracked lips - Cervical lymphadenopathy - Bilateral conjunctivitis

Answer 416

TOM TIP: If you come across a child with a fever persisting for more than 5 days, think of Kawasaki disease! A rash, strawberry tongue, lymphadenopathy and conjunctivitis will seal the diagnosis in your exams.

Answer 417

- FBC - anaemia, leukocytosis, thrombocytosis and CRP - LFT - hypoalbuminemia and raised enzymes - Urinalysis - leukocytosis without infection - Gold standard: Echocardiogram - due to increased risk of coronary artery aneurysm

Answer 418

1st line - High dose aspirin to reduce the risk of thrombosis - IV immunoglobulins to reduce the risk of coronary artery aneurysms - Follow-up: echo to monitor for coronary artery aneurysms - Kawasaki disease - aspirin used in children, usually avoided in children due to risk of Reye’s syndrome. EXAM FODDER!

Answer 419

An infection that spreads very easily, best prevention is the MMR vaccine. On the rise in the UK due to public anxiety about the MMR vaccine. Spread through droplets (coughing, sneezing) and it is highly infectious during viral shedding.

Answer 420

- Prodrome of fever ( up to 40), coryzal, cough, conjunctivitis (4Cs) - Koplik spots 2 - 3 days before rash (blue, white spots on the inside of the cheek) - Maculopapular rash which spreads downwards from behind the ears to the whole of the body

Answer 421

Oral fluid (OF) sample: tested for measles IgM (first) /IgG (later) and measles RNA

Answer 422

- Fluid in the pleural space > 300ml - Transudate: protein < 30g/L (patients with normal serum protein) - Exudate: protein > 30g/L (patients with normal serum protein Transudate (imbalance in hydrostatic/oncotic pressure) - Heart failure - Liver cirrhosis - Nephrotic syndrome Exudate causes (local factors affecting clearance/accumulation) - Malignancy - Infection (e.g. empyema due to bacterial pneumonia) - PE

Answer 423

- Supportive treatment - oral fluids, rest, paracetamol/ibuprofen - Stay off school until 5 days after rash onset - Notify public health (UK health security agency)

Answer 424

- Otitis media (most common) - Pneumonia (most common of death worldwide)

Answer 425

- Caused by varicella zoster virus (VZV), and it results in a highly contagious, generalised vesicular rash (fluid-filled blisters). - Immunity after one episode and will not be affected again

Answer 426

Characterised by widespread, erythematous, raised vesicular (fluid-filled), blistering lesions Starts on trunk or face and spreads outwards to whole body over 2- 5 days When lesions scab over, they stop being contagious Other symptoms: - Fever is often the first symptom - Itch - General fatigue and malaise

Answer 427

Highly contagious Direct contact with lesions or infected droplets from cough or sneeze Incubation period = 10 days to 3 weeks

Answer 428

- Bacterial superinfection - Dehydration - Conjunctival lesions - Pneumonia - Encephalitis (presenting as ataxia) - After the infection, the virus can lie dormant in sensory dorsal root ganglion cells and cranial nerves reactivate later in life as shingles or Ramsay Hunt syndrome.

Answer 429

- If a pregnant woman is not immune and is exposed to chickenpox, varicella zoster immunoglobulins given - Chickenpox in pregnancy < 28 weeks can lead to developmental problems i.e. congenital varicella syndrome - Chickenpox in mother around time of delivery can lead to life-threatening neonatal infection - treated with immunoglobulins and aciclovir.

Answer 430

- Supportive treatment - Complications such as encephalitis require admission - Itching - calamine lotion and chlorphenamine (antihistamine). - Absence from school and avoid pregnant women and immunocompromised patients until lesions are dry and crusted over

Answer 431

A generally mild disease in children that occurs in winter and spring Rare in UK now due to the MMR vaccine Incubation period is 15 to 20 days, spread through infected droplets

Answer 432

- Low grade fever - Pink/ pale red maculopapular rash starting on face then spreads across body - Cough, running nose, sore throat, lymphadenopathy (retroauricular, occupital, posterior cervical)

Answer 433

- Supportive - Diagnosis should be confirmed serologically if any risk of exposure to non-immune pregnant women

Answer 434

Congenital rubella syndrome - congential deafness, cataracts, congential heart disease (PDA), learning disability

Answer 435

Caused by an exfoliative staphylococcal toxin which causes separation of epidermal skin through the granular cell layer. Mainly affects infants and young children <5

Answer 436

Caused by an exfoliative staphylococcal toxin (enzyme) which causes separation of epidermal skin through the granular cell layer. Mainly affects infants and young children < 5

Answer 437

- Fever - Malaise - Purulent, crusting, localised infection around eyes/nose/mouth with widespread erythema and tenderness of the skin - Epidermis separates on gentle pressure (Nikosky sign)

Answer 438

- IV anti-staphylococcal antibiotics (e.g. flucloxacillin) - Fluids - Analgesia

Answer 439

TB an infectious disease caused by Mycobacterium tuberculosis, a small rod-shaped bacteria (a bacillus). They are acid-fast due to a waxy coating, stained using Zeihl-Neelsen stain, and bright red against a blue background. On the rise again due to children with HIV and multidrug-resistant TB

Answer 440

- Most children are infected by an infected adult in the household - Immigrants from areas with high tuberculosis prevalence - People with relatives or close contacts from countries with a high rate of TB - Immunocompromised (e.g., HIV or immunosuppressant medications)

Answer 441

- Nearly 50% infants and 90% older children have no or minimal symptoms. - However, they will have latent disease - positive tuberculin skin test (aka Mantoux tests) Symptomatic - Fever - Anorexia and weight loss - Cough - CXR changes - hilar lymphadenopathy, lung lesions (Ghon focus) with surrounding lymph node invovlement = Ghon complexes - Then comes dormancy and dissemination - Reactivation - Post-primary TB

Answer 442

Localized lung disease or widely disseminated (called miliary TB), to sites such as bones, joints, kidneys, pericardium, and CNS. Infants and young children prone to tuberculous meningitis.

Answer 443

- Gastric washing (to obtain swallowed sputum) on 3 consecutive mornings using NG tube then Ziehl–Neelsen stain and mycobacterial culture to identify sensitivities - Mantoux tests - but could be positive due to past vaccination. - UK guidelines state that ≥ 5mm induration = positive - interferon-gamma release assays (IGRA) is a new blood test that assesses T cells' response to antigens found in TB but not the BCG vaccine.

Answer 444

RIPE Rifampicin, isoniazid, pyrazinamide, ethambutol Then just rifampicin and isoniazid after 2 months Unless MDR-TB then depending on sensitivities Side effects Rifampicin “red-I’m-pissin’” can cause red/orange discolouration of secretions Isoniazid (“I’m-so-numb-azid”) can cause peripheral neuropathy. Pyridoxine (vitamin B6) is co-prescribed to reduce the risk. Pyrazinamide can cause hyperuricaemia (high uric acid levels), resulting in gout and kidney stones. Ethambutol (“eye-thambutol”) can cause colour blindness and reduced visual acuity. Rifampicin, isoniazid and pyrazinamide are all associated with hepatotoxicity.

Answer 445

Mother to baby - during pregnancy (intrauterine), at delivery (intrapartum) or breast-feeding Affects over 3 million children worldwide

Answer 446

>18 months - detection of antibodies against the virus < 18 months = HIV DNA PCR as antibodies (transplacental maternal IgG) from the mother can be present in infants under 18m Two negative HIV DNA PCRs within the first 3 months of life, at least 2 weeks after completion of postnatal antiretroviral therapy (ART), indicate the infant is not infected, although this is confirmed by the loss of maternal HIV antibodies from the infant’s circulation after 18 months of age.

Answer 447

- Some infants progress rapidly to symptomatic disease and AIDs within 1 year - However, most are asymptomatic for a few years - Mild immunoexpression = lymphadenopathy - Moderate = recurrent bacterial infections, chronic diarrhoea and lymphocytic interstitial pneumonitis - Severe AIDS = opportunistic infections such as pneumocystis jirovecii pneumonia (PCP), severe faltering growth and encephalopathy.

Answer 448

Antiretroviral therapy should be started in all infants and some older children depending on clinical status, HIV load and CD4 count - aim to achieve a normal CD4 count and undetectable viral load. - Immunisations - routine immunisation schedule - MDT approach including the family - Regular follow-ups should include weight, development, and clinical signs of disease. - Effective ART means HIV is more of a chronic disease - Paediatric HIV clinics in the UK increasingly manage adolescents and ART adherence, safe sex practices, fertility, and pregnancy.

Answer 449

Encephalitis is Inflammation of the brain which can be either infectious or non-infections (usually autoimmune) - Infection by neurotoxic virus e.g. enteroviruses, respiratory viruses (influenza), HSV-1 - Delayed swelling (postinfectious encephalopathy), e.g. following chickenpox - Slow virus infection e.g. HIV

Answer 450

- Fever, altered consciousness, and often seizures. - Behavioural changes - Initially indistinguishable from meningitis

Answer 451

- FBC - Blood glucose and blood gas (for acidosis) - Coagulation screen, C-reactive protein Urea and electrolytes, liver function tests - Culture of blood, throat swab, urine, stool for bacteria - Rapid antigen test for meningitis organisms (can be done on blood, CSF, or urine) - LP to send CSF fluid (see meningitis for CSF results) - Throat swab for viral PCR testing - LP is contraindicated if active seizures, hemodynamically unstable - Brain MRI after the LP - HIV testing is also recommended in all patients with encephalitis

Answer 452

- High-dose aciclovir - Proven or high-suspicion of HSV encephalitis = IV aciclovir for 3 weeks - Repeat LP to ensure successful tx before stopping antivirals

Answer 453

Toxin-producing S. aureus and group A streptococci can cause this rare syndrome, the toxin can be released from infection at any site (e.g. abrasions, burns). Toxin acts as a superantigen. - Fever over39°C - Hypotension - Dffuse erythematous,macular rash.

Answer 454

- Characterised by - Fever > 39 - Hypotension - Diffuse erythematous, macular rash Causes organ dysfunction - Mucositis: Conjunctivae, oral mucosa, genital mucosa - Gastrointestinal: Vomiting/Diarrhoea - Renal impairment - Liver impairment - Clotting abnormalities and thrombocytopenia

Answer 455

- Intensive care support for shock - Debridement of infected areas (removal of infected tissue) - Antibiotics such as ceftriaxone with clindamycin to stop toxin production - After 1-2 weeks, desquamation of the palms, soles, fingers and toes - Risk of recurrent skin and soft tissue infections

Answer 456

- Cause: group A streptococcal infection - Most common in children 5–12 years. - Fever and flu-like illness (sore throat, lymphadenopathy) - Then 2 - 3 days later, headache and tonsilitis - Classic ‘sandpaper-like’ maculopapular rash that starts on chest or abdomen and spreads, with flushed cheeks and perioral sparing. - White-coated, sore or swollen tongue - Only bacterial cause of childhood exanthema Mx - Antibiotics (phenoxymethylpenicillin or erythromycin) to prevent acute glomerulonephritis or,rheumatic fever. - Stay off school until 24 hrs after 1 dose antibiotics

Answer 457

A rare, severe subcutaneous infection, often involving the skin down to fascia and muscle. The affected area may enlarge rapidly, leaving poorly perfused necrotic tissue, usually at the centre. Accompanied by severe pain and systemic illness, which usually requires intensive care.

Answer 458

A strain of S.aureus or group A streptococcus that produces the Panton-Valentine leukocidin (PVL) toxin

Answer 459

Urgent surgical debridement of necrotic tissue to stop infection from spreading, then IV antibiotics and IV immunoglobulin might be given

Answer 460

8 weeks: - 6 in 1 vaccine (diphtheria, tetanus, pertussis, polio, haemophilus influenzae type B (Hib) and hepatitis B) - Meningococcal type B - Rotavirus (oral vaccine) 12 weeks: - 6 in 1 vaccine booster - Pneumococcal (13 different serotypes) - Rotavirus booster 16 weeks: - 6 in 1 vaccine booster - Meningococcal type B booster 1 year: - 2 in 1 HiB/MenC (no longer given 2024) - MMR vaccine (measles, mumps and rubella) first dose - Pneumococcal booster - Meningococcal type B booster Yearly from age 2 – 15 - Influenza vaccine (nasal vaccine) - if eligible 3 years 4 months: - Pre-school booster of 4 in 1 (diphtheria, tetanus, pertussis and polio) - MMR vaccine booster 12 – 13 years: - Human papillomavirus (HPV) vaccine (2 doses given 6 to 24 months apart) 14 years: Teen booster of 3 in 1 (tetanus, diphtheria and polio) - Meningococcal groups A, C, W and Y

Answer 461

Human Parvovirus B19 - Asymptomatic - Fever, malaise, headache, and myalgia followed by a characteristic rash on the face (slapped-cheek) a week later, progressing to a maculopapular, reticular (lace-like) rash on the trunk and limbs - Aplastic crisis – the most serious consequence of HPV-B19 infection, in children with sickle cell disease or thalassaemia); and in immunocompromised children - Fetal disease – transmission of maternal HPV-B19 infection may lead to fetal hydrops and death due to severe anaemia, but most affected fetuses recover Supportive mangement

Answer 462

Allergy is an umbrella term for hypersensitivity of the immune system to allergens. Allergens are proteins (antigens) the immune system recognises as foreign and potentially harmful.

Answer 463

A predisposition to having hypersensitivity reactions to allergens. Atopic conditions: eczema, asthma, hayfever, allergic rhinitis and food allergies. Runs in families

Answer 464

This leading theory suggests there are two main contributors to a child developing an allergy to a food: - Break in skin barrier (infection or eczema) that allows allergens e.g. peanut protein to enter and react with the immune system - The child's GI tract has not previously been exposed to the allergen, and the immune system recognises the allergen as foreign and harmful. - The immune system becomes sensitised to that allergen, and the next time it is exposed to the allergen, a full immune response is mounted If the baby, after weaning after 6m, is regularly exposed to the antigen via the GI tract, then the immune system will not recognise it as harmful So the theory is that regular exposure to an allergen through food and preventing exposure to that allergen through the skin barrier can help prevent food allergies from developing.

Answer 465

Detailed history is the most important aspect of diagnosis - can diagnose with history alone sometimes: Most important areas: - Timing after exposure to the allergen - Previous and subsequent exposure and reaction to the allergen - Symptoms of rash, swelling, breathing difficulty, wheeze and cough - Previous personal and family history of atopic conditions and allergies

Answer 466

The most reliable information about whether a patient has an allergy is a clear and detailed history. There are three main ways to test for allergy: - Skin prick testing - RAST testing - which involves blood tests for total and allergen-specific immunoglobulin E (IgE) - Both test sensitisation, not allergy so unreliable - Gold standard: food challenge testing - the child is given increasing amounts of the allergen under close monitoring - Patch Testing - useful for allergic contact dermatitis e.g. latex

Answer 467

- Avoidance of allergen - Avoiding triggering foods - House dust mites - regular hoovering and changing sheets and pillows in patients that are allergic to house dust mites - Staying indoors when the pollen count is high - Prophylactic antihistamines - Anaphylactic reactions - adrenalin auto-injector - Sometimes, specialist centres will gradually expose patients to allergens over months, called immunotherapy to try reduce their reaction Following Exposure Treatment of allergic reactions are with: Antihistamines (e.g. cetirizine) Steroids (e.g. oral prednisolone, topical hydrocortisone or IV hydrocortisone) Intramuscular adrenalin in anaphylaxis Antihistamines and steroids work by dampening the immune response to allergens. Close monitoring is essential after an allergic reaction to ensure it does not progress to anaphylaxis.

Answer 468

A chronic atopic condition caused by defects in the normal continuity of the skin barrier, leading to inflammation in the skin. Genetic component, runs in families, an atopic condition Mild (occasional mild patches responding well to emollients) to severe (large patches of skin affected - strong topical steroids or systemic treatments)

Answer 469

Infants - dry, red, itchy and sore patches of skin over the flexor surfaces (the inside of elbows and knees) and on the face and neck. Patients with eczema experience periods where the condition is well controlled and flares.

Answer 470

Caused by defects in the skin barrier. Tiny gaps in the skin barrier provide an entrance for irritants, microbes and allergens that create an immune response, resulting in inflammation and the associated symptoms.

Answer 471

- Emollients - maintenance therapy to create an artificial barrier over the skin, can be used instead of soaps and washes that disrupt skin barrier Avoid environmental triggers: e.g. some washing powders, cleaning products, emotional events or stress - Flares - treated with thicker emollients, topical steroids, “wet wraps” (covering affected areas in emollients and sealing with a wrap O/N) The steroid ladder from weakest to most potent: - Mild: Hydrocortisone 0.5%, 1% and 2.5% - Moderate: Eumovate (clobetasone butyrate 0.05%) - Potent: Betnovate (betamethasone 0.1%) - Very potent: Dermovate (clobetasol propionate 0.05%)

Answer 472

- Thinning of the skin - Telangiectasia - enlarged capillaries under the skin - Systemic absorption of steroid - Extra caution with thin skins e.g. eyes and face, best to avoid these areas in children

Answer 473

Bacterial infection by staphylococcus aureus, treated with flucloxacillin Severe = admission and IV antibiotics. Eczema Herpeticum - herpes simplex virus (HSV) or varicella zoster virus (VZV) infection - treat with oral or IV aciclovir

Answer 474

A condition caused by an IgE-mediated type 1 hypersensitivity reaction. Environmental allergens cause an allergic inflammatory response in the nasal mucosa. - Seasonal - e.g. hay fever Perennial (year-round), house dust mite allergy - Occupational

Answer 475

- Runny, blocked and itchy nose - Sneezing - Itchy, red and swollen eyes - Part of atopy Diagnosis is usually made based on the history. Skin prick testing can be useful, particularly testing for pollen, animal dander and house dust mite.

Answer 476

- Detailed history - Skin prick testing particularly for pollen, animals, house dust mites allergy

Answer 477

- Avoid the trigger. - Hoovering, good home ventilation and changing pillows - Staying indoors during high pollen count Oral antihistamines are taken prior to exposure to reduce allergic symptoms: - Non-sedating antihistamines include cetirizine, loratadine and fexofenadine - Sedating antihistamines include chlorphenamine (Piriton) and promethazine - Nasal antihistamines - good for rapid response - Referral to an immunologist if ineffective

Answer 478

- Puberty starts age 8 – 14 in girls - Lasts about 4 years - In girls, breast buds mark the start of puberty, then pubic hair and growth spurt, and then menstrual periods about 2 years from the start of puberty.

Answer 479

- Begins around 9 – 15 - In boys, puberty starts with enlargement of the testicles, then of the penis, gradual darkening of the scrotum, development of pubic hair, growth spurt (18m after testicle enlargement) and deepening of the voice. - In girls and boys, there is development of acne, axillary hair, body odour, and mood changes

Answer 480

Hypogonadism is the lack of sex hormones oestrogen and testosterone (controlled by gonadotropins - FSH and LH), divided into: - Hypogonadotropic hypogonadism - deficiency of LH and FHS - Hypergonadotropic hypogonadism - lack of respond by the gonads (testes/ovaries) to LH and FSH

Answer 481

A lack of oestrogen and testosterone, that normally rise before and during puberty. This causes: - Hypogonadotropic hypogonadism: a deficiency of LH and FSH so the gonads do not produce oestrogen and testosterone - Hypergonadotropic hypogonadism: a lack of response to LH and FSH by the gonads

Answer 482

- Previous damage to the hypothalamus or pituitary, e.g. radiotherapy or surgery - Growth hormone deficiency - Hypothyroidism - CF or IBD can temporarily delay puberty - Consistutential delay - without underlying cause

Answer 483

Result of abnormal functioning of the gonads. This could be due to: - Previous damage to the gonads (e.g. testicular torsion, cancer) - Congenital absence of the testes or ovaries - Klinefelter's Syndrome (XXY) - Turner’s Syndrome (XO)

Answer 484

Investigations if no evidence of puberty in a girl aged 13 or a boy aged 14. - Detailed history - general health, development, family history, diet and lifestyle. - Examination - height, weight, stage of pubertal development and features of underlying conditions. - FBC for anaemia - U&E for CKD - Anti-TTG or anti-EMA antibodies Hormonal blood tests: - Early morning serum FSH and LH (the gonadotropins). - TFT - Genetic testing with microarray

Answer 485

- Treat underlying condition - Patients with constitutional delay - reassurance and observation - Replacement sex hormones under expert guidance

Answer 486

- Most common - physiologic anaemia of infancy - natural dip in Hb between 6 - 9 weeks of age - Anaemia of prematurity - Blood loss - Haemolysis

Answer 487

Premature neonates are much more likely to become significantly anaemic during the first few weeks of life compared with term infants. Causes - Less time in utero receiving maternal iron - Rapid growth outpaces RBC production in first few weeks - Reduced erythropoietin levels

Answer 488

Haemolytic disease of the newborn occurs when a rhesus D antigen-negative mother's immune system mounts a response against a rhesus D-positive fetus This occurs through sensitisation events where the maternal and fetal blood mixes Usually no problems during first pregnancy The mother's anti-D antibodies can cross the placenta into the fetus during subsequent pregnancies, and cause a rhesus-positive fetus' own immune system to attack its own RBC - causing haemolysis, anaemia and high bilirubin levels.

Answer 489

- Microcytic anaemia (small RBCs) - Normocytic anaemia (normal-sized RBCs) - Macrocytic anaemia (large RBCs)

Answer 490

TAILS. T – Thalassaemia A – Anaemia of chronic disease I – Iron deficiency anaemia L – Lead poisoning S – Sideroblastic anaemia

Answer 491

AAAHH A – Acute blood loss A – Anaemia of Chronic Disease A – Aplastic Anaemia H – Haemolytic Anaemia H – Hypothyroidism

Answer 492

Megaloblastic - impaired DNA synthesis = abnormally large cell, due to a vitamin deficiency: - B12 deficiency - Folate deficiency Normoblastic macrocytic anaemia: - Alcohol - Reticulocytosis (usually from haemolytic anaemia or blood loss) - Hypothyroidism - Liver disease

Answer 493

General - Tiredness - Shortness of breath - Headaches - Dizziness - Palpitations Iron deficiency anaemia: - Pica - Hair loss

Answer 494

Generic signs of anaemia: - Pale skin - Conjunctival pallor - Tachycardia - Raised respiratory rate Signs of specific causes of anaemia: Iron deficiency: - Koilonychia (spoon shaped nails) - Atrophic glossitis - Brittle hair and nails Haemolytic anaemia - jaundice Thalassamia - bone deformities

Answer 495

- Full blood count for haemoglobin and MCV - Blood film - Reticulocyte count - Ferritin (low iron deficiency) - B12 and folate - Bilirubin (raised in haemolysis) - Haemoglobin electrophoresis (haemoglobinopathies)

Answer 496

The bone marrow need iron to produce haemoglobin - Dietary insufficiency - Loss of iron, e.g. heavy menstruation - Inadequate iron absorption, e.g. IBD

Answer 497

Iron travels bound to transferrin in blood. Total iron binding capacity (TIBC) - level of transferrin - Both TIBC and transferrin levels increase in iron deficiency and decrease in iron overload. Transferrin Saturation (%) = Serum Iron / Total Iron Binding Capacity Ferritin = form of iron in cells - Low ferritin = IDA - Normal ferritin can still mean IDA as extra ferritin released during inflammation, infection or cancer

Answer 498

Normal ranges below - Serum Ferritin: 12 – 200 ug/L - Serum Iron: 14 – 31 μmol/L (not useful) - Total Iron Binding Capacity: 54 – 75 μmol/L

Answer 499

Dietary supplement with dietician guidance - Ferrous sulphate or ferrous fumarate - Blood transfusions - rarely needed

Answer 500

Nonglomerular - Infection (bacterial, viral, tuberculosis, schistosomiasis) - Kidneys stones - Sickle cell disease Glomerular - Acute glomerulonephritis (usually with proteinuria) - Chronic glomerulonephritis (usually with proteinuria) - IgA nephropathy

Answer 501

A height > 2 standard deviations below the average for their age and sex. This is the same as being below the 2nd centile.

Answer 502

Boys: (mother's height + father's height + 14cm) / 2 Girls: (mother's height + father's height – 14cm) / 2

Answer 503

- Familial short stature - Constitutional delay in growth and development - Malnutrition - Chronic diseases, such as coeliac disease, inflammatory bowel disease or congenital heart disease - Endocrine disorders, such as hypothyroidism - Genetic conditions, such as Down syndrome

Answer 504

Variation of normal development. Short stature in childhood but normal height in adulthood Key feature - delayed bone age, assessed by x-ray of wrist and hand Diagnosis = history and examination, supported by x-ray findings Management = exclude other causes, reassurance and monitoring growth over time

Answer 505

The development of secondary sexual characteristics before 8 y/o in females and 9 y/o in males in the UK.

Answer 506

- Precocious puberty - Premature breast development (thelarche) - Premature pubic hair development (pubarche) - Isolated premature menarche.

Answer 507

Gonadotropin-dependent - more common in females due to the ovaries being very sensitive to gonadotropins. Familial or idiopathic Gonadotropin-independent e.g. adrenal tumours - more seen in males as the testes are relatively insensitive to gonadotropin e.g.

Answer 508

- Treat underlying cause e.g. adrenal tumour - Reducing the rate of skeletal maturation, which is assessed by bone age. - Addressing psychological/behavioural difficulties associated with early progression through puberty. - Delayof menarche - gonadotrophin-releasing hormone analogue (stimulates LH and FSH) - Gonadotropin-independent - source of sex steroid identified and treated with inhibitors (e.g. medroxyprogesterone acetate, testolactone)

Answer 509

The testes develop in the abdomen and then gradually migrate down, through the inguinal canal and into the scrotum. Testes develop in the abdomen > inguinal canal > scrotum prior to birth However, 5% still in abdomen - undescended testes (cryptorchidism). Might be palpable in the inguinal canal Risks in older children or after puberty - higher risk of testicular torsion, infertility and testicular cancer.

Answer 510

- Family history - Low birth weight - Small for gestational age - Prematurity - Maternal smoking during pregnancy

Answer 511

Watch and wait in newborns, testes will descend in the first 3 – 6 months most of the time If not, then refer to paediatric urologist. Orchidopexy (surgical correction of undescended testes) between 6 and 12 months of age.

Answer 512

This is a normal response where prepubescent boys' testes to move out of the scrotum into the inguinal canal when it is cold or cremasteric reflex is activated. It should resolve by puberty, if not then correction with orchidopexy.

Answer 513

- Height - Weight - Head circumference - BMI Plot on growth chat - common exam question! Age on x-axis and weight, height and head circumference on the y-axis (separate charts).

Answer 514

Centiles (cent– meaning hundred) on the growth chart indicate where a child’s growth compares to the normal distribution for their age and sex. If a child is not maintaining their centile, that is concerning e.g. a girl on the 91st centile dropping to 9th centile

Answer 515

- Fetal - most rapid - First 2 years (infantile): rapid growth driven by nutritional factors - From 2 years to puberty (childhood phase): steady slow growth During puberty (growth spurt): rapid growth spurt driven by sex hormones

Answer 516

When a newborn takes its first breath, this expands the alveoli, decreasing the pulmonary vascular resistance > pressure drop in right atrium. Left atrial pressure now exceeds right atrial pressure, which compresses the atrial septum and causes functional closure of the foramen ovale (fossa ovalis) Increased blood oxygenation causes a drop in circulating prostaglandins > closure of the ductus arteriosus (ligamentum arteriosum)

Answer 517

- Natural food for babies during first 6 months - Promotes bonding between mother and baby - Mother: reduces risk of breast and ovarian cancer and type 2 diabetes. - Colostrum - even higher in protein and antibodies - Lowers risk of GI, ear and low resp infections - Lowers risk of diabetes, hypertension and obesity later in life

Answer 518

By day 5 Breastfed = 10% Formula-fed = 5% However, if continued weight loss or failure to regain weight by two weeks = admission and assessment for possible causes Most common cause is dehydration due to under-feeding

Answer 519

The gradual transition from milk to normal food. - Starts around 6 months of age. - Pureed fruit, root vegetables and “baby rice” - No honey until 1yo due to infantile botulism - Over 6 months, this will gradually resemble the diet of an older child, supplemented with snacks and milk

Answer 520

- 6 weeks: Smiles - 3 months: Communicates pleasure - 6 months: Curious and engaged with people - 9 months: They become cautious and apprehensive with strangers - 12 months: Engages with others by pointing and handing objects. Waves bye bye. Claps hands. - 18 months: Imitates activities such as using a phone - 2 years: Extends interest to others beyond parents, such as waving to strangers. Plays next to but not necessarily with other children (parallel play). Usually dry by day. - 3 years: They will seek out other children and plays with them. Bowel control. - 4 years: Has best friend. Dry by night. Dresses self. Imaginative play.

Answer 521

Birth - Aware of light - May fix and follow horizontally a face or large coloured toy 6–8 weeks - Face fixation and following large coloured toy 6 months - Fixates 2.5-cm brick - Visually directed reach - Responds to preferential looking tests of acuity (e.g. Keeler or Teller cards) 12 months - Fixates 1mm crumb 1–2 years - Preferential looking tests of acuity (e.g. Cardiff cards) 2–3 years - Names or matches pictures in linear array (e.g. Kay pictures or Lea symbols). Distant and near 3years+ - Names or matches letters (e.g. Sonksen logMAR, or logMAR crowded). Distant and near

Answer 522

Visual acuity is low at birth - light sources, faces and areas of high contrast, and large targets from 30cm away. But gradually increases to normal adult levels by about 5 years of age. Vision screening is performed at school entry or in preschool children

Answer 523

- Health professionals (paediatrician, physiotherapist, occupational therapist, speech and language therapist, clinical psychologist, specialist health visitor, dietician) and often a social worker

Answer 524

- Diabetes - Hyperthyroidism - Systemic lupus erythematosus

Answer 525

- Genetic malformations - IUGR - Macrosomia Neonatal: - Hypoglycemia - Respiratory distress - HCM (Lily disease)

Answer 526

Common in neonates: IUGR, preterm, materal diabetes Easily prevented by early, frequent feeding Monitor blood glucose (>= 2.6mmol/l) If symptomatic or asymptomatic with 2x < 2.6mmol/l or 1x < 1.6mmol/L reading = IV 10% dextrose

Answer 527

Maternal Graves' disease = 1-2% chance that baby will be hyperthyroid as well because TSH-receptor antibody crosses the placenta and stimulates fetal thyroid hormone production. Fetal tachycardia on CTG Neonatal weight loss, irritability, heart failure, diarrhoea in first 2 weeks Anti-thyroid drugs until condition resolves

Answer 528

SLE with Ro (SS-A) or La (SS-B) - neonatal lupus syndrome with self-limiting rash, and rarely heart block SLE with antiphospholipid syndrome (causes hypercoagulable state) is associated with recurrent miscarriage, IUGR, pre-eclampsia, placental abruption and preterm delivery.

Answer 529

The APGAR score measures a newborn's vitals to see if extra medical care is needed There are 5 components to the APGAR score: Appearance, Pulse, Grimace, Activity, Respiration. **Appearance** 2 is for a pink baby 1 if the baby is blue peripherally 0 if the baby is blue all over **Pulse:** 2 for >100 beats per minute 1 for <100 beats per minute 0 for a non-detectable heart rate **Grimace:** relates to the response to stimulation 2 for crying on stimulation 1 for a grimace 0 for no response **Activity:** 2 for flexed limbs that resists extension 1 for some flexion 0 for a floppy baby **Respiration:** 2 for a strong cry 1 for a weak cry 0 for no respiratory effort NICE advise that newborns are assessed at 1 and 5 minutes.

Answer 530

- Birth - delay cord clamping if possible - Start clock/note time , dry/wrap, stimulate, keep warm (heat lamp + plastic wrap if preterm) - Assess colour , tone, breathing, HR - Ensure open airway - If gasping / not breathing 1. Give 5 inflations (30 cm H2O) – start in air 2. Apply PEEP (positive-end expiratory pressure) 5–6 cm H2O, if possible 3. Apply SpO2 +/- ECG - Reassess: if no increase in HR, look for chest movement If the chest is not moving - Check mask, head and jaw position - 2 person support - Consider suction, laryngeal mask/tracheal tube - Repeat inflation breaths - Consider increasing the inflation pressure - Reassess: if no increase in HR, look for chest movement - Once chest is moving, continue ventilation breaths - If heart rate is not detectable or < 60 min-1 after 30 seconds of ventilation: 1. Synchronise 3 chest compressions to 1 ventilation 2. Increase oxygen to 100% 3. Consider intubation if not already done or laryngeal mask if not possible - Reassess heart rate and chest movement every 30 seconds - If the heart rate remains not detectable or < 60/min: - Vascular access and drugs - Consider other factors e.g. pneumothorax, hypovolaemia, congenital abnormality - Update parents and debrief team and complete records

Answer 531

- Birth: Dry the baby, remove any wet towels and cover and start the clock or note the time. - Within 30 seconds: Assess tone, breathing and heart rate. - Within 60 seconds: If gasping or not breathing - open the airway and give 5 inflation breaths - Re-assess: If no increase in heart rate look for chest movement - If chest not moving: Recheck head position, consider 2-person airway control and other airway manoeuvres, repeat inflation breaths and look for a response. - If no increase in heart rate look for chest movement - When the chest is moving: If heart rate is not detectable or slow (< 60 min-1) - start chest compressions with 3 compressions to each breath. - Reassess heart rate every 30 seconds. If heart rate is not detectable or slow (<60 beats per minute) consider venous access and drugs

Answer 532

Prolonged hypoxia leads to hypoxic-ischaemic encephalopathy (HIE) and potentially long-term consequences of cerebral palsy

Answer 533

- Screening tool to pick up abnormalities in newborns - Performed 72 hours after birth and repeated at 6 - 8 weeks at the GP

Answer 534

- Oxygen sats - pre-ductal (right-hand) and post-ductal (feet) O2 sats (≤2% difference) - General appearance: colour, tone, cry - Head - **Eyes** - red reflex absent in congenital cataracts and retinoblastoma - Shoulder and arm - **Chest/heart** - murmurs, side of heart - Abdomen - **Testes** - palpate to check if descended - **Legs/hips** - Developmental dysplasia of the hip, Barlow's and Ortolani's manoeuvre - Back - Reflexes - moro, suckling, rooting, grasp, stepping

Answer 535

1. Airway, breathing: If respiratory distress then: - Clear the airway - Oxygen - CPAP - Mechanical ventilation 2. Monitoring: - O2 sats (91 - 95%) - HR - RR - Temperature - BP - BM - Blood gases - Weight 3. Temperature control: - Plastic wrap if extremely preterm - Radiant warmer 4. Lines: - Peripheral intravenous line: for IV fluids, antibiotics, and other drugs. - Arterial line: if frequent ABG, blood pressure - PIC line for parenteral nutrition 5. Investigations: - haemoglobin, neutrophil, platelet count - blood urea, creatinine, electrolytes, and lactate - Blood culture - Blood glucose - CRP 6. Antibiotics - Broad-spectrum 7. Minimal handling 8. Keep parents informed and allow them to see and touch their baby

Answer 536

- 1st day: 60–90 ml/kg - Increase by 20–30 ml/kg per day to 150–180 ml/kg per day by about day 5 of life

Answer 537

To provide support and education for the patient, couples and families affected by a genetic condition - Primary goal - provide info to allow for greater autonomy and choice in reproductive decisions and other areas of personal life. Includes: - Listening to questions and concerns of the patient and family - Establishing correct diagnosis - Risk estimation - by providing pedigree info, drawing a pedigree of three generations = essential part of a clinical genetic assessment. - Communication - info presented in an understandable and unbiased way, written info and diagrams helpful to refer back to later - Discussion of management and prevention e.g. reproductive options if risk to offspring e.g. not having any more children, sperm donor or IVF - Signposting to support e.g. charity Unique - Counselling should be non-directive but aid in decision-making

Answer 538

It depends on gestational age 23 - 25 weeks of gestation might encounter many problems and require many weeks of intensive hospital care, and have a high overall mortality. Prognosis after 30 weeks = excellent with modern neonatal care

Answer 539

1st day - about 60–90 ml/kg is usually required, which increases by 20–30 ml/kg per day to 150–180 ml/kg per day by about day 5 of life

Answer 540

- Need for resuscitation and stabilisation at birth Respiratory: - Respiratory distress syndrome - Pneumothorax - Apnoea and bradycardia Metabolic: - hypoglycaemia - hypocalcaemia - electrolyte imbalance - osteopenia of prematurity Others - Hypotension - Patent ductus arteriosus - Temperature control - Nutrition - Infection - Jaundice - Necrotizing enterocolitis - Retinopathy of prematurity - Anaemia of prematurity

Answer 541

This is caused by the lack of surfactant, a phospholipid and protein mixture that lowers surface tension. This causes widespread alveolar collapse and inadequate gaseous exchange Common in preterm infants ≤ 28 weeks

Answer 542

- Tachypnoea over 60 breaths/minute - Laboured breathing with chest wall recession (particularly sternal and subcostal indrawing) and nasal flaring - Expiratory grunting - Cyanosis if severe

Answer 543

"ground-glass" appearance with an indistinct heart border

Answer 544

- Ambient oxygen - Surfactant therapy by providing surfactant into lungs via tracheal tube or catheter - CPAP, high-flow nasal cannula therapy or mechanical ventilation via a tracheal tube.

Answer 545

Common in very low birthweight under 32 weeks Bradycardia caused by the infant not breathing for 20 - 30s, usually caused by underdeveloped central respiratory control Gentle physical stimulation to start breathing again. Treatment: respiratory stimulant caffeine, CPAP or mechanical ventilation might be needed

Answer 546

- Large surface area to volume ratio - Their skin is thin and heat permeable so transepidermal water loss in 1st week of life - Little subcutaneous fat for insulation

Answer 547

Convection: - Raise temperature of ambient air in incubator - Warm clothes Radiation: - Cover baby - Double walls for incubators Evaporation: Dry and wrap at birth; if extremely preterm, place baby’s body directly into plastic bag at birth without drying Conduction: - Nurse on heated mattress

Answer 548

In utero, ductus arteriosus connects pulmonary artery with aorta, allowing blood to bypass the lungs, usually closes within 3 days of birth Patent ductus arteriosus is common in preterm infants It shunts blood from left (aorta) to right side (pulmonary artery) of circulation Asymptomatic or apnoea and bradycardia Bounding pulse (heart pushing blood really hard) + systolic murmur

Answer 549

If symptomatic, pharmacological closure with prostaglandin synthetase inhibitor or ibuprofen

Answer 550

High nutritional requirements due to rapid growth Orogastric or nasogastric tube if <35-36 weeks as start sucking and swallowing around then Breast milk +/- phosphate (prevent osteopenia), protein or calories Iron supplements

Answer 551

Most common surgical emergency in neonates Inflammatory disease that can lead to bowel necrosis, multi-organ failure

Answer 552

- Prematurity (especially < 32 weeks) - Feeding cow's milk formula (breastfeeding is protective)

Answer 553

- Feed intolerance - Vomiting (might be bile stained) - Abdomen distention - Fresh blood in stool - Later shock

Answer 554

- Distended bowel loops - Thickening of bowel walls with intramural gas - Pneumatosis intestinalis is gas in the bowel wall - Gas in the portal veins - Late stage: bowel perforation (indicated by pneumoperitoneum - free gas in the peritoneal cavity)

Answer 555

- Stop oral feeding - Broad-spectrum antibiotics to cover aerobic and anaerobic (NICE example: benzylpenicilin sodium + gentamicin + metronidazole) - Parenteral nutrition - Ventilatory support - Once stablised, immediate transfer to neonatal surgerical team for surgery to remove dead bowel tissue

Answer 556

- Cerebral palsy (5 - 10%) - Learning difficulties Difficulties with: - fine motor skills, e.g. threading beads - concentration - behaviour problems, especially attention deficit disorders

Answer 557

- Physiological release of haemoglobin from haemolysis due to high haemoglobin concentration at birth - Newborn RBC lifespan = 70 days (adults 120 days) - Hepatic bilirubin metabolism = less efficient Kernicterus - brain damage due to excess bilirubin, cross BBB and permanent damage to CNS > cerebral palsy, learning disabilities and deafness

Answer 558

- Haemolytic anaemia - Infection (e.g. sepsis) - Inborn errors of metabolism - Liver disease ## Footnote TOM TIP: Jaundice in the first 24 hours of life is pathological and requires urgent investigations and management. Neonatal sepsis is a common cause

Answer 559

≥ 80 µmol/l

Answer 560

Urgent! Neonatal sepsis most common cause

Answer 561

- Physiological jaundice - Breast milk jaundice (unconjugated hyperbilirubinemia) - Infection e.g. UTI

Answer 562

Unconjugated - Breast milk jaundice (can last up to 12 weeks) - Infection (particularly UTI) - Gastrointestinal obstruction (e.g. pyloric stenosis Conjugated - Bile duct obstruction - Neonatal jaundice

Answer 563

- FBC and blood film for polycythaemia or anaemia - Conjugated bilirubin: elevated levels indicate a hepatobiliary cause - Blood type testing of mother and baby for ABO or rhesus incompatibility - Direct Coombs Test (direct antiglobulin test) for haemolysis - Thyroid function, particularly for hypothyroid - Blood and urine cultures if infection is suspected. Suspected sepsis needs treatment with antibiotics.

Answer 564

Total bilirubin levels monitored and plotted on treatment threshold charts. Specific to gestational age of the baby at birth. Age = x-axis Total bilirubin level = y-axis If bilirubin reaches threshold, then treatment to lower levels TOM TIP: potential exam question to plot or interpret Treatment 1st line: phototherapy - rebound bilirubin levels measured 12 to 18hr after tx to ensure below tx threshold Extremely high levels = exchange transfusions, replacing neonatal blood with donor blood

Answer 565

Early onset (< 48hrs after birth) sepsis Late onset (> 48 hrs after birth) sepsis

Answer 566

Bacteria have ascended from the birth canal and invaded the amniotic fluid, which secondarily infect the fetus.

Answer 567

- Prolonged/premature rupture of the amniotic membranes - When evidence of chorioamnionitis e.g. maternal fever during labour

Answer 568

- Fever - Reduced tone and activity - Poor feeding - Respiratory distress or apnoea - Vomiting - Tachycardia or bradycardia - Hypoxia - Jaundice within 24 hours - Seizures - Hypoglycaemia Red flags - Confirmed or suspected sepsis in the mother - Signs of shock - Seizures - Term baby needing mechanical ventilation - Respiratory distress starting more than 4 hours after birth

Answer 569

Check local policy, basic overview of NICE guidelines: - Monitor closely > 12 hrs if one risk factor clinical feature - Start tx if 2 or more - Start tx if 1 red flag - Abx wihin 1 hr of descision - Blood culture and CRP before abx - LP if infection strongly suspected or features of meningitis (e.g. seizures)

Answer 570

- Empirical antibiotics without waiting for results - IV abx (usually benzylpenicillin or amoxicillin) to cover group B streptococci, L. monocytogenes and other gram +ve bacteria - Combined with cover for gram -ve bacteria (aminoglycoside e.g. gentamicin) - If CRP and cultures negative and no clinical features of infection then abx stopped after 36 - 48hours - If positive, then CSF analysis

Answer 571

- Neonate's environment - Hospital acquired infections are a risk in neonatal units - Staff must adhere to effective hand hygiene - NICU = indwelling venous catheters for parenteral nutrition

Answer 572

Staphylococcus epidermidis but there are others

Answer 573

Initial - flucloxacillin and gentamicin covers most gram -ve bacilli and staphylococci

Answer 574

Conditions where there is: - Structural abnormality - Extra abnormal portion - Abnormal number of chromosomes

Answer 575

- Where a portion of the chromosome is missing - Rare, unlike to come across them in med school - E.g. cri du chat, missing portion of chromosome 5

Answer 576

Portion of the chromosome is duplicated The chromosome contain twice the number of copies of that gene E.g. Charcot-Marie-Tooth, caused by duplication of the short arm of chromosome 17

Answer 577

Where one chromosome is directly swapped with the portion of another chromosome Banalaced (reciporcal translocation Unbalanced (nonreciprocal translocation - one portion of the first chromosome attaches to the other without exchange Usually does not lead to specific genetic syndromes, but predisposes the person to conditions e.g. cancer and infertility E.g. "Philadelphia chromosome", reciprocal translocation between 9 and 12 in AML

Answer 578

An extra chromosome - total of 47 instead of 46, three conditions for exams! Patau syndrome - trisomy 13 Edwards syndrome - trisomy 18 Down's syndrome - trisomy 21

Answer 579

When chromosomal abnormality occurs after conception The abnormality occurs in a portion of the cells in the body and not others Leading to different genetic material in different cells in the person's body Each case is unique and effects unpredictable

Answer 580

The most common chronic inflammatory joint disease in children and adolescents in the UK. Defined as persistent joint swelling (> 6 weeks) presenting before 16 years of age in absence of infection or any other defined cause

Answer 581

Systemic JIA Polyarticular JIA Oligoarticular JIA Enthesitis related arthritis Juvenile psoriatic arthritis

Answer 582

AKA Still's disease - a systemic illness that can occur throughout childhood in boys and girls: Typical features: - Subtle salmon-pink rash - High swinging fevers - Joint inflammation and pain - Enlarged lymph nodes - Weight loss - Joint inflammation and pain - Splenomegaly - Muscle pain - Pleuritis and pericarditis Think systemic JIA if a patient presents with a salmon-pink rash, fevers > 5 days and joint pain Key complication: macrophage activation syndrome, acutely unwell child with disseminated intravascular coagulopathy, anaemia, thrombocytopenia, bleeding and non-blanching rash - low ESR

Answer 583

Non-infective - Kawasaki's disease - Systemic JIA (Still's disease) - Leukaemia

Answer 584

Negative antinuclear antibodies and rheumatoid factors Raised inflammatory markers = raised CRP, ESR, platelets an serum ferritin

Answer 585

Idiopathic inflammatory arthritis in 5 joints or more Symmetrical and can affect small joints of the hands and feet and large joints like the hips and knees Minimal systemic symptoms but sometimes mild fever, anaemia and reduced growth Equivalent of rheumatoid arthritis in adults

Answer 586

Most children are negative for rheumatoid factor and are known as "seronegative" If rheumatoid factor positive then "seropositive" - tend to older children and adolescents and disease pattern is similar to RA in adults

Answer 587

Inflammatory arthritis that involves 4 joints or less Usually only affects a single, larger joint e.g. knee or ankle More common in girls < 6 years Usually no systemic symptoms

Answer 588

Anterior uveitis, referral to ophthalmologist for management and follow up

Answer 589

- Inflammatory markers normal or mildly elevated - Antinuclear antibodies often positive - Rheumatoid factor negative

Answer 590

- Paediatric rheumatology with specialist MDT - Aim to reduce inflammation within the joints, minimise symptoms and maximise function Medical treatment depends on severity and response: - NSAIDs, such as ibuprofen - Steroids, either oral, intramuscular or intra-articular in oligoarthritis - Disease modifying anti-rheumatic drugs (DMARDs), such as methotrexate, and sulfasalazine - Biologic therapy, such as the tumour necrosis factor inhibitors e.g. infliximab

Answer 591

Intussuspection is when the bowel telescopes in on itself. Presentation: 6 to 18 months, colicky pain and a sausage-shaped mass in RUQ. Blood and mucus in stools (red currant jelly stool" = late feature and might not be present if child brought in early. 1st line treatment= air insufflation. This is the use of per rectal air under radiological guidance to reduce the telescoping of the bowel.

Answer 592

Age; Respiratory rate (breaths per minute) <1 = 30-40 1-2 = 25-35 2-5 = 25-30 5-12 = 20-25 >12 = 15-20

Answer 593

<1 year 110–160 2–5 years 95–150 5–12 years 80–120 >12 years 60–100

Answer 594

Investigations - Induced by hyperventilation (blow on a piece of paper or windmill for 2–3 minutes) - EEG: 3Hz generalized, symmetrical and waves and spike discharges Management - Ethosuximide - Sodium valproate Good prognosis: 90-95% become seizure free in adolescence

Answer 595

- Typically presents in 4 - 12 years old - More common in males Clinical features - Seizures typically occur at night or on waking up - Partial seizures (e.g. paraesthesia affecting the face - unilateral OR abnormal feelings in tongue) - Secondary generalisation may occur (i.e. parents may only report tonic-clonic movements) - Child is otherwise normal Investigations: - EEG: Centrotemporal spikes (sharp waves from Rolandic area of brain) Management - May not need medications - The prognosis is excellent, seizures usually stop by adolescence

Answer 596

- Presents within 4 - 8 months - More common in males - Often associated with a serious underlying condition (birth asphyxia, encephalitis) - Can be idiopathic Clinical features - Sudden muscle stiffening: "head bobbing" or " body crunching" - flexion of the head, trunk and arms followed by extension of the arms - It lasts only 1-2 seconds but may be repeated up to 50 times - Progressive mental handicap Investigations: EEG shows hypsarrhythmia in two-thirds of infants Management: Vigabatrin is now considered first-line therapy (+/- steroids) Poor prognosis: loss of skills, learning disability

Answer 597

- Typical onset is in the teenage years - More common in girls Clinical features - Sudden, shock-like movements of both arms - E.g. throwing drinks or cereal in morning (due to myoclonus - involuntary, uncontrolled muscle contraction) Also can have generalized tonic-clonic seizures Triggers of above seizures: sleep deprivation or drinking too much alcohol (most powerful) Learning not affected Management: Usually good response to Sodium valproate, Levetiracetam or Lamotrigine

Answer 598

It is a highly aggressive, rare type of bone cancer predominantly affecting teenagers and young adults Common sites: pelvis, femur, and tibia. Clinical features: nocturnal bone pain, presence of a mass or swelling, restricted joint mobility, and systemic symptoms Ix: X-ray to visualise bone, bone biopsy Mx: MDT, surgery, chemo and radiotherapy if impossible to resect e.f. pelvis or skeleton

Answer 599

Type of bone cancer, most common in adolescents and younger adults, 10 to 20 years old Common site: femur, tibia, humerus Presentation: persistent bone pain, worse at night Diagnosis: - Urgent direct access x-ray within 48 hours. - Poorly defined bone lesion "fluffy" appearance, with a "sunburst appearance" from a periosteal reaction (bone lining irritation) - CT/MRI for staging Mx: - urgent specialist assessment within 48 hours - Treatment = surgical resection, often with limb amputation - Adjuvant chemo to improve outcome - Sarcoma MDT in specialist centres in UK - paeds oncologists and surgeons, physios, dietitians, prosthetics and orthotics and social services

Answer 600

AKA Chronic Lung Disease of Prematurity Lung inflammation, oxidative stress contribute to abnormal repair and remodeling of the lungs = impaired lung function Diagnosed when infant has oxygen requirement after postmenstrual age (Gestational age + postnatal age) of 36 weeks.

Answer 601

- Low oxygen saturation - Increased work of breathing - Poor feeding and weight gain - Crackles and wheezes on chest auscultation - Increased susceptibility to infection

Answer 602

CXR - fibrosis and lung collapse, cystic changes and distension of the lungs

Answer 603

Give corticosteroids to mothers showing signs of premature labour at < 36 weeks gestation After birth: - Using CPAP instead of intubation and ventilation when possible - Caffeine to stimulate the respiratory effort - Avoid over-oxygenating with supplementary oxygen

Answer 604

- Formal sleep study to assess baby's O2 sats - Some babies are discharged home on low dose oxygen then weaned off over first year - Respiratory synitical virus protection with monthly palivizumab injections

Answer 605

Meconium is the 1st stool passed by a newborn Meconium aspiration occurs when neonates inhale thick meconium. The asphyxiated neonate might start gasping and aspirate meconium before delivery. Most common in post-term deliveries

Answer 606

Meconium is a lung irritant and causes mechanical obstruction and chemical pneumonitis - Meconium-stained liquor - Respiratory distress at or shortly after birth - If significant = persistent pulmonary hypertension of the newborn (PPHN) = R to L heart shunt = cyanotic

Answer 607

Perinatal Hx and examination CXR - consolidations, patchy infiltrates and hyperinflation ABG - hypoxemia, hypercapnia, respiratory acidosis

Answer 608

Supportive O2 therapy Artificial ventilation is often required Complication: Persistent pulmonary hypertension of the newborn (lungs cannot take in O2 and inflate, pulmonary vessels does not open up = persistent high pressure in the pulmonary vessels) Mx: - Mechanical ventilation and circulatory support - Inhaled nitric oxide (potent vasodilator) or sildenafil (Viagra) - High-frequency oscillatory ventilation

Answer 609

Maintenance fluid over 24 hours (Holliday-Segar formula) 100ml/kg/day for the first 10kg 50ml/kg/day for the next 10kg of weight 20ml/kg/day for weight over 20kg There is an online calculator

Answer 610

Percentage dehydration = [(well weight (kg) - current weight (kg)/well weight] x 100 Fluid deficient (ml) = percentage dehydration x weight (kg) x 10 Total fluid requirement (ml) = maintenance fluid (ml) + fluid deficit (ml)

Answer 611

Congenital abnormality where the ball of femur (femoral head) and the socket of the pelvis (acetabulum) do not articulate properly

Answer 612

Barlow's test - checks for posterior dislocation Ortolani's test - checks for relocation on hip abduction

Answer 613

- Female - Firstborn - Family history of DDH - Frank breech presentation

Answer 614

Ultrasound to confirm diagnosis

Answer 615

If < 6 months at presentation = Pavlik harness, it is kept on permanently and keeps the baby's hips flexed and abducted, adjusted as baby grows. Holds femoral head in the correct position to allow the hip socket (acetabulum) to develop a normal shape. Regular reviews and removed when baby's hips are more stable, usually after 6 to 8 weeks. Surgery if harness ineffective or diagnosis after 6 months of age After surgery, a hip spica cast used to immobilise hips

Paediatrics Flashcards

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