1
Q
When does pyloric stenosis typically present
A
- 2nd to 4th weeks of life.
- Rarely later up to four months
2
Q
Features of pyloric stenosis
A
- Projectile vomiting after feed (30min after)
- Constipation and dehydration
- Palpable mass in upper abdomen
- HYPOchloarmic, HYPOkalaemic, metabolic alkalosis due to vomiting
- Loss of Cl ions and K ions in vomit
- Alkalosis as loss of H ions in vomit
- Hypochloraemia leads to elevated bicarbonate
- Low Cl impairs kidney correction of alkalosis (through bicarbonate excretion)
3
Q
Diagnosis of pyloric stenosis
A
Ultrasound
4
Q
Management of pyloric stenosis
A
Ramstedt pyloromyotomy
5
Q
What kind of pulse is felt in a child with a patent ductus arteriosus
A
Large volume, bounding, collapsing pulse
6
Q
NICE indications for checking urine sample in a child
A
- Symptoms or signs suggestive of UTI
- Unexplained fever of >38
- Test urine after 24hr the latest
- Child with an alternative site of infection but who remain unwell
- Consider urine test after 24 hr at the latest
7
Q
Methods or urine collection
A
- Clean catch
- Urine collection pads
- NOT cotton wool balls, gauze or sanitary pads
- Invasive: suprapubic aspiration should only be done if non-invasive methods not possible
8
Q
Treatment for lower UTI
A
- 3 day course of antibiotics
- Trimethoprim, nitrofurantoin, cephalosporin or amoxicillin
- 5 day if not settled after 48hrs
- SAFETY NET
9
Q
Treatment for upper UTI
A
- 10d course co-amoxiclav
10
Q
Management of infant (<3months) with UTI
A
Refer immediately to paediatrician
11
Q
Management of child >3 months old with upper UTI
A
- Consider admission
- If not admitted
- Oral antibiotics
- Cephalosporin or co-amoxiclav 10d
- Oral antibiotics
12
Q
Management of child with recurrent UTI
A
Prophylactic antibiotics
13
Q
Major risk factors of Sudden Infant Death Syndrome
A
- Prone sleeping
- Parental smoking
- Prematurity
- Bed sharing
- Hyperthermia or head-covering
- Male sec
- Multiple births
- Social class IV and V
- Maternal drug use
- Winter (increased incidence)
Odds ratios are additive.
14
Q
What are some protective factors for sudden infant death syndrome
A
- Breast feeding
- Room sharing
- NOT bed sharing
- Use of pacifiers
15
Q
Inheritence pattern of haeophilia A
A
X-linked Recessive
16
Q
Affected Males can only have what phenotype of children
A
- Carrier daughters
- Unaffected sons
17
Q
Risk factors for Developmental Dysplasia of the hip (DDH)
A
- Female (6x risk)
- Breech presentation
- Family history
- Firstborn
- Oligohydramnios
- Birth weight > 5kg
- Congenital calcaneovalgus foot deformity
18
Q
Screening indications for DDH
A
Ultrasound examination: at 6 weeks if
- Family history (first degree) of hip problems in early life
- Breech at or 36 week gestation irresepctive of presentation at birth or mode or delivery
- Multiple pregnancy
Screening with Barlow and Ortolani:
- ALL infants at newborn check and 6-week baby check
19
Q
Barlow vs ortolani test
A
- Barlow
- Dislocates an articulated femoral head
- Ortolani
- Relocate dislocated femoral head
20
Q
Features seen on clinical examination of infant with DDH
A
- Barlow and ortolani test positive
- Asymetry of leg length
- Level of knees when hips and knees are bilaterally flexed
- Restricted abduction of hip flexion
- Skin fold
21
Q
How do you confirm diagnosis of DDH
A
Ultrasound
22
Q
Management of DDH
A
- Pavlik harness
- Must not be removed - advise on how to change clothes, clean harness but dont remove harness
- Surgerical correction in older children
23
Q
Causes of obesity in children (5)
A
- Growth hormone deficiency
- Hypothyroidism
- Down’s SYndrome
- Cushing’s Syndrome
- Prader-Willi Sydrome
24
Q
Complications in obese children
A
- Orthopaedic problems
- Slipped Upper Femoral Epiphyses
- Blount’s disease (bowing of legs from tibia abnormality)
- MSK pains
- Psychological
- Poor self-esteem, bullying
- Respiratory
- Sleep Apnoea
- Benign Intracranial Hypertension
25
Long term complications of obses children
* T2DM
* Hypertension
* Ischaemic Heart Disease
26
Micro-organism causing Hand, foot and mouth disease?
* Picornaviridae family
* Coxsackie A16
* Enterovirus 71
## Footnote
*Very contagious and outbreaks in nursery*
27
Clinical features of hand foot and mouth disease
* Mild systemic upset
* Sore throat
* Fever
* Oral ulcers
* Followed by vesicles on palms and soles of feet
28
Management and advice for hand foot mouth disease
* Symptomatic therapy only
* Hydration and analgesia
* Advice
* No need to exclude from school UNLESS child is feeling unwell, then exclude until feeling better
* Contact you if there is a large outbreak
* Reassure no link to disease in cattle
29
Key features of Osgood-Schlatter Disease (Tibial Apophysitis)
* Sporty teenagers
* No history of injury
* Pain, tender and swelling over tibial tubercle
30
Key features of Chondromalacia patellae
* Teenage girls
* Softening of patella cartilage
* Anterior knee pain on walking up and down stairs and rising from prolonged sitting
* Responds to physiotherapy
31
Key features of Osteochondritis dissecans
* Pain after exercise
* Intermittent swelling and locking
32
Key features of Patellar Subluxation
* Medial knee pain due to lateral subluxation of patella
* Knee may give way
33
Key features of Patellar tendonitis
* Athletic teenage boys
* Chronic anterior knee pain that worsens after running
* Tender below the patella on examination
## Footnote
*Chondromalacia patellae common in teenage girls (anterior knee pain on walking up and down stairs)*
34
List and describe primitive reflexes in neonates
* Moro
* Head extension causes abduction followed by adduction of arms
* birth - 3/4 months old
* Grasp
* Flexion of fingers when objects placed in palm
* birth - 4/5 months old
* Rooting
* Placing finger or nipple near baby's mouth causes them to turn towards the stimulus and suck (sucking reflex)
* birth - 4 months old
* Stepping
* Baby walks when held upright and soles of feet touch a flat surface
* birth - 2 months old
* ATNR
* Face is turned to one side, the arm and leg on the side they are facing extend and the opposit arms and legs flex
35
Diagnostic criteria for whooping cough
* Acute cough lasting \>14 days without apprent cause and one or more of:
* Paroxysmal cough
* Inspiritory whoop
* Post-tussive vommiting
* Undiagnosed apnoeic attack in young infants
36
Diagnosis of whooping cough
* Nasal swab culture for bordatella pertussis
* several days or weeks for results
* PCR and serology
37
Management of whooping cough
* Infants \<6months old = ADMIT
* Notifiable disease
* Oral macrolide if cough onset within previous 21 days
* Houeshold contacts offered prophylaxis
* School exclusion until 48 hours after commencing antibiotics OR 21 days from onset of illness if no antibiotic treatment
38
Which macrolides would you use for:
* Infants \<1 month old
* Children \> 1 month old and non-pregnant adults
* Pregnant women
* Infants \<1 month old
* **Clarithromycin**
* Children \> 1 month old and non-pregnant adults
* **Azithromycin** or **Clarithromycin**
* Pregnant women
* **Erythromycin**
39
Complications of whooping cough
* Subconjunctival haemorrhage
* From cough
* Pneumonia
* Bronchiectasis
* Seizures
* From anoxia
* Lymphocytosis
40
What screening test is used in newborns? What test is used if this is abnormal
* Otoacoustic emmision test
* Computer generated click in ear piece which meassures babys response
* Auditory brainstem response test if above is abnormal
41
Management of neonates iwth hypoxic brain injury
* Therapeutic cooling 33-35 degrees
* Whole body or head cooling
* Must be initiated within 6 hours of injury/birth
42
Triad For Shaken Baby syndrome
* retinal haemorrhages
* subdural haematoma
* encephalopathy
43
Describe the basic physiology behind genitalia development
* Initially gonads in foetus are undifferentiated
* On the Y chromosome, there is a sex-determining gene (SRY gene) which causes differentation of gonads into testis
* If absent, then the donads differentiate into ovaries
44
Three Causes of ambiguous genitalia
* **Congenital adrenal hyperplasia**
* True Hermaphodism
* Maternal ingestions of androgens
45
What are some risk factors for haemorrhagic disease of the newborn
* No Vitamin K at birth
* Breat-feeding (breast milk not rich in Vit K)
* Maternal use of anti-epileptics
46
How is Vit K administered
Once-off IM injection at birth
Or Oral
47
What are the causative organisms for bacterial pneumoniae in children
* Streptococcus pneumoniae
* Mycoplasma pneumoniae
* Chlamydia pneumoniae
Not immunised/immunocompromised
* Haemophilus influenza
* Bordatella pertussis
*Legionella unlikely in children (unless risk factors -AC)*
48
Management of bacterial pneumoniae in children
* Amoxicillin = first line in ALL children
* + Macrolide if no respones to amoxicillin
49
What antibiotic is used for mycoplasma or chlamydia poneumonia
* Macrolides
50
If a bacterial pneumonia is associated with influenza, what antiubiotic should be used
* Co-amoxiclav
* Amoxicillin + clavulanic acid
51
Describe the features of ebstain's anomaly
* Septal and posterior leaflets of tricuspid valves low insertion into ventricle
* Leads to large right atrium and small right ventricle - atrialisation of right ventricle
52
What drug is associated with Ebstein's anomaly
* Maternal use of lithium for BPD
* First trimester association
53
What are some clinical features that you may see as a result of ebstain's anomaly
* Wolff-Parkinson White Syndrome
* Delta waves
* Pre-excitation syndrome involving accessory pathway between atrium and ventricle
* Tricuspid incompetence
* Giant V waves (JVP)
* Pan-systolic murmur
54
What is a common benign cause of noisy breathing in infants
* Laryngomalacia
* congenital softening of the cartilage of the larynx, causing collapse during inspiration.
* Laryngomalacia can present at birth, and worsens in the first few weeks of life. It usually self-resolves before 2 years of age.
55
Generally speaking what anomalies are found in autosomal dominant conditions
* Structural
* Hereditary spherocytosis
* Marfan's syndromes
* Marfan's syndromes
* Achondroplasia
* Huntington's Disease
* Neurofibromatosis
* Osteogenesis Imperfecta
* Exceptions - Ataxias
* ataxia telangiectasia
* Friedreich's ataxia
56
Generally speaking what anomalies are found in autosomal recessive conditions
* Metabolic
* Exceptions
* Hunter's
* G6PD are X-linked recessive
* hyperlipidaemia type II and hypokalaemic periodic paralysis are autosomal dominant
* Cystic fibrosis
* Sickle Cell Disease
57
List the features of an innocent murmur
* soft-blowing murmur in the pulmonary area or short buzzing murmur in the aortic area
* may vary with posture
* localised with **no radiation**
* no diastolic component
* no thrill
* no added sounds (e.g. clicks)
* asymptomatic child
* no other abnormality
58
Name and describe two innocent ejection murmurs
* Venous Hums
* Due to the turbulent blood flow in the great veins returning to the heart. Heard as a continuous blowing noise heard just below bothclavicles
* Still's Murmur
* Low-pitched sound heard at the lower left sternal edge
Ejection murmurs Due to turbulent blood flow at the outflow tract of the heart
59
Define pathological jaundice
* Jaundice in the first 24 hr of life
60
Causes of pathological jaundice
* Rhesus Haemolytic Disease
* ABO Haemolytic Disease
* Hereditary Spherocytosis
* G6PD
61
Descibe physiological jaundice
* Jaundice 2-14 days of life
* Breastmilk jaundice
62
Describe prolonged jaundice
* Jaundice lasting \>14d
63
What are some causes of prolonged jaundice
* Biliary atresia
* Hypothyroidism
* Galactosaemia
* UTI
* Breastmilk Jaundice
* Congenital infections (toxoplasmosis, CMV)
64
What are some investigations to order for prolonged jaundice
* Bilirubin
* Conjugated vs Uncongjugated
* TFTs
* DAT (Coombe's Test)
* FBC and blood film
* Urine and MC&S and reducing sugars
* U&E
* LFT
65
Slapped Cheek/Fifth Disease is caused by
Parvovirus B19
66
What is the first-line investigation for DDH in:
Newborn
Infants \>4.5 months
* Newborn = Ultrasound
* Infants \> 4.5 months
* X-Ray
* because ossification of the femoral head has occurred, meaning that x-rays are better able to visualise the joint.
67
What is the most common cause of hypothyroidism in the UK (and name two other causes)
* Autoimmune thyroiditis
* Post total-boyd irradiation
* Child previously treated for ALL
* Iodine deficiency (developing world)
68
Features of childhood sexual abuse
* pregnancy
* sexually transmitted infections, recurrent UTIs
* sexually precocious behaviour
* anal fissure, bruising
* reflex anal dilatation
* enuresis and encopresis
* behavioural problems, self-harm
* recurrent symptoms e.g. headaches, abdominal pain
69
When are chest compressions indicated in a newborn baby (after delivery)
When HR \> 60
70
How is a newborn who has just been delivered managed if they are not breathing and is thought to be due to fluid in the lungs
* 5 rescue breaths via 250mL face mask
71
Define Perthes' Disease
* Degenerative condition affecting hip joints in children (4-8 years).
* Due to avascular necrosis of the femoral head (specifically the femoral epiphysis)
* Impaired blood supply causes bone infarction
*5 times more common in boys; around 10% cases are bilateral*
72
Features of Perthes' Disease
* Hip pain that develops progressively over few weeks
* Limp, antalgic gait
* Stiffness and reduced range of hip movement
73
Diagnosis of Perthes' disease
* Plain X ray
* Technetium bone scan or MRI if normal x-ray/symptoms persist
74
Management of Perthes' Disease
* Cast/Braces - keep femoral head within acetabulum
* \<6 years - observe
* Older - surgical management
* Operate on severe cases
* Heals over 2-3 years
75
Complications of Perthes' Disease
* Osteoarthritis
* Premature fusion of the growth plates
76
Describe the algorithm used for an unresponsive child
77
Describe the management of Cow's Milk Protein Intolerance/Allergy
* If Baby is formula-fed:
* Use exyensive hydrolysed formula (eHF) in mild-moderate
* Use amino acid-based formula (AAF) in severe or if no response to eHF
* If baby is breastfed:
* Continue breastfeeding
* Eliminate cow's milk protein from maternal diet (dairy).
* Consider prescribing calcium supplements for breastfeeding mothers whose babies have/suspected CMPI to prevent deficiency whilst they exclude dairy from diet
* Use eHF when breastfeeding stops until 12 months of age and at least for 6 months
78
What is the most common causative organism in gastroenteritis
Rotavirus
79
Causes of chrnoic diarrhoea in infants (\<1 yr)
* Cow's milk intolerance
* Toddler diarrhoea
* Coeliac disease
* Post-gastroenteritis lactose intolerance
80
What is the advice regarding exclusion for a child with:
* Scarlet Fever
* Whooping cough
* Measles
* Rubella
* Chickenpox
* Conjunctivitis
* Fifth Disease
* Mumps
* D&V
* Infectiours mononucleosis
* Impetigo
* Head lice
* Threadworms
* Scabies
* Influenza
* Hand, foot and mouth disease
81
What centile of height needs a review by a paediatrician
Children below 0.4th centile for height
82
What are the factors which affect foetal growth
* **Environmental**
* ****Maternal nutrition and uterine capacity
* Placental
* Hormonal
* Genetic
* Primarily maternal
83
What are the major drivers of growth in:
* Infancy (birth-2 yrs)
* Childhood (3-11yrs)
* Puberty (11-18yrs)
* Infancy
* Insulin
* Nutrition
* Childhood
* Growth hormone
* Thyroxine
* Puberty
* Growth hormone
* Sex Steroids
* Genetic factors most important determinant of final adult height
84
Patau Syndrome genetic defect and features
Trisomy 13
* Microcephalic, small eyes
* Cleft lip/palate
* Polydactyly
* Scalp lesions
85
Genetic defect of Edward's Syndrome and features
Trisomy 18
* Micrognathia
* Low-set ears
* Rocker bottom feet
* Overlapping fingers
86
Genetic Defect of Down Syndrome and features
Trisomy 21
* Hypotonia at birth
* Flat nasal bridge
* Upward palpebral fissure (eyes)
* Epicanthic fold
* Single palmar crease
* Sandal gap toe
87
Inheritence pattern of Fragile X Syndrome and features
X-linked dominant (CGG repeat FMR1 gene on X chromosome)
* Learning difficulties; delays in S&L
* Elongated face and broad forehead
* Large ears
* High arched palate
* Prominent jaw
* Strabismus
* Macro-orchidism
* Hypotonia and joint laxity
* Flat feet (pes planus)
*FMR1 = Fragile x mental retardation 1*
88
Inheritence pattern of Noonan Syndrome and features
Autosomal dominant
* Webbed neck
* Pectus excavatum
* Short stature
* Pulmonary stenosis
* Occular hypertelorism (distance between eyes)
89
Features of Pierre-Robin Syndrome/Sequence
Triad:
* Micrognathia (small mandible)
* Glossoptosis (posterior displacement of tongue -\> upper airw3ay obstruction)
* Cleft palate
90
Features of Prader-Willi
Genetic Imprinting
* Hypotonia
* Hypogonadism
* Obesity
*
91
Genetic abnormality in Williams Syndrome and features
Deletion of genes from chromosome 7s (or autosomal dominant)
* Short stature
* Learning difficulties
* Friendly, extrovert personality
* Transient neonatal hypercalcaemia
* Suprclavicular aoritc stenosis
92
Cri du chat syndrome genetic abnormality and features
Chromosome 5p deletion
* Characteristic cry (hence name) due to larynx and neuro problems
* Feeding difficulties and poor weight gain
* Learning difficulties
* Microcephaly
* Micrognathism
* Hypertelorism
93
What is the classic disease evolution for chicken pox
Increased temperature for 2 days then develop clusters of erythematous vesicles of torso and face
94
Management of chicken pox
Supportive measures
Calamine lotion (itch)
Paracetamol
95
Why should ibuprofen (NSAIDs) be avoided in chicken pox
Associated risk of developing necrotising fasciitis
96
Infectivity of chicken pox
* 4 days before rash and 5 days after rash appears
* Incubation(10-21d)
97
Complications of chicken pox
* Secondary infection of lesions
* Secondary infection from group A Strep -\> necrotising fasciitis
* Encephalitis - rare but serious
* PC: irritability, confusion, drowsiness, neck stiffness
* Cerebellar ataxia
* in recovery phase
* Pneumonia
* Chestp ain , SoB, wheeze
* Myocarditis
* Transient arthritis
98
Spot diganosis: A concave abdominal appearance in neonate presenting with dyspnoea and tachypnoea at birth
* Congenital diaphragmatic hernia
* It is characterised by the herniation of abdominal viscera into the chest cavity due to incomplete formation of the diaphragm.
* This can result in **pulmonary hypoplasia** and **hypertension** which causes **respiratory distress** shortly after birth.
* usually represents a failure of the pleuroperitoneal canal to close completely
* Most common - left-sided posterolateral Bochdalek hernia which accounts for around 85% of cases.
99
When would you refer a child who is does not know about 2-6 words in voabulary
Refer at 18 months for SALT review
100
List the people involved in the MDT responsible for the care of someone with Cystic Fibrosis
* Doctor
* Nurse
* Dietician
* Social worker
* Psychologist
* Physiotherapist
* Respiratory therapist (PFTs)
101
Outline the key points in the management of Cystic fibrosis
* Regular (twice daily) chest physiotherapy and postural drainage
* High calorie diet, high fat intake
* Vitamin supplementation (DEKA)
* Pancreatic enzyme supplements with meals
* Can give PPIs to maintain alkaline conditions
* Minimise contact with other CF patients to prevent cross infection
* Symptom management
* Pharmacological management
* Bilateral lung transplant
102
What infections are commonly assoicated with cystic fibrosis
* Pseudomonas aeruginosa
* Burkholderia cepacia complex
103
What can be given for symptomatiuc control (as well as prophylacxis)
* Salbutamol
* Dornase alfa (mucolytic)
* Antibiotic
* Inhaled tobramycin (aminoglycoside)
* Anti-inflammatory
* Azithromycin/ibuprofen
104
Name some CFTR modulators used in cystic fibrosis and moa
* Ivacaftor
* Potentiator
* Lumacaftor
* Moves defective CFTR protein to cell surface
* Tezacaftor
Usually Lum/Iva or Teza/Iva
105
What is a common complication of viral gastroenteritis
* Post-gastroenteritis lactose intolerance
* Remove lactose from diet for a few months followed by gradual reintrooduction to resolve
106
What is the most common cause of inherited neurodevelopmental delay
Fragile X Syndrome
107
Fragile X Syndrome is commonly associated with what disorder
Attention Deficit Hyperactivity Disorder (ADHD)
108
Diagnosis of Fragile X Syndrome
* Antenatally by chorionic villus sampling or amniocentesis
* Analysis of CGG repeats using restriction endonuclease digestion and southern blot analysis
109
Features of Cow's Milk Protein Allergy/Intolerance
## Footnote
*Allergy = oimmediate reactions; intolerance = mild-moderate delayed reactions*
* Regurgitation and vomitting
* Diarrhoea
* Urticaria
* Atopic eczema
* Colic symptoms: irritability, crying
* Wheeze, chronic ocugh
* Rarely angioedema and anaphylaxis
110
Diagnosis and investigation of cow's milk protein allergy/intolerance
* Diagnosis = clinical
* Investigations
* Skin prick/patch testing
* Total IgE and Specific IgE (RAST) for cow milk protein
111
What are the causes of a cyanotic congenital heart disease
* **Tetralogy of Fallot**
* Transposition of the great arteries
112
Four characteristic features of tetralogy of fallot
* Ventricular Septal Defect (VSD)
* Right ventricular outflow obstruction - **pulmonary stenosis**
* Right Ventricular Hypertrophy
* Overriding aorta
## Footnote
*Degree of RV outflow tract obstruction determines degree of cyanosis and clinical severity*
113
Other features of tetrallogy of fallot
* Cyanosis
* Right-To-Left Shunt
* Ejection systolic murmur (due to pulmonary stenosis)
* CXR: Boot shaped heart
* ECG: RV hypertrophy
* Right-sided aortic arch in 25% patients
114
Difference in presentation of tetralogy of fallot and transposition of great arteries
* TOF: 1-2 months
* TGA: at birth
115
Management of Tetralogy of Fallot
* Surgical repair in two parts
* Beta blockers for reduction of infundibular spasms - less cyanotic episodes
116
Causative agent for roseola infantum (exanthem subitum or sixth disease)
Human Herpes Virus 6 (HHV6)
## Footnote
*Incubation 5-15 days ant affect 6 months - 2 year olds*
117
Features of roseola infantum
* High fever followed by:
* Maculopapular rash
* Nagayama spots - pauplar enanthem on uvula and soft palate
* Febrile convulsions 10-15%
* Diarrhoea and cough
*Consequences:*
* *Aseptic meningitis*
* *Hepatitis*
118
Investigations for biliary atresia
* Serum bilirubin and total bilirubin
* Conj/unconj
* LFT
* Raised GGT (maybe raise AST/ALT)
* Serum alpha1-antitrypsin
* Neonatal cholestasis
* Sweat chloride test
* Cystic fibrosis
* Ultrasound of biliary tree and liver
* Distension and tract abnormalities
* Percutaneous liver biopsy with intraoperative cholangioscopy
119
Features of growing pains
* Never present at start of the day when child wakes
* No limpNo limitation of activity
* Systematically well
* Normal physcial exmination
* Normal motor milestones
* Intermittent symptoms and worse after vigorous activity
120
Management of acute asthma
* Oxygen via facemask (in severe and life-threatening)
* B2 bronchodilator by spacer or nebuliser
* 1 puff with tidal breathing every 60sec to a maximum of 10 puffs
* Oral prednisolone 3-5 days
* 20mg in 2-5 yrs
* 30-40mg \>5 yrs
* Assess response
* Poor - repeat B2 bronchodilator and admit
* Good - continue bronchildator therapy but not exceeding 4 hourly
* Continue prednisolone until recovery (min 3-5 days)
* Arrange follow up clinic in next 48 hrs
* Refer to secondary care if 2nd attack in 12 months
121
Characteristic features/evolution of roseola infantum
Roseola infantum is a common viral illness that causes a characteristic 3 day fever and then emergence of a maculopapular rash on the 4th day, following the resolution of the fever. The fever is typically rapid onset and can often predispose to febrile convulsions. The rash typically starts on the trunk and limbs (this is different to chickenpox which is typically a central rash). HHV6 is neurotropic (attacks the nervous system) and thus a rare complication is encephalitis and febrile fits (after cessation of the fever).
122
What are the two ways of measuring bilirubin in a neonate
* Transcutaneous bilirubinometer
* Serum bilirubin
123
What are the criteria for the use of transcutaneous bilirubinometer
* _\>_ 35 weeks gestation
* \>24 hours old
* Baby visibly jaundiced
* Baby not on phototherapy
124
What are the criteria for the use of serum bilirubin in neonates
* \< 35 weeks gestation
* \< 24 hrs old and visibily jaundived
* If transcutaneous bilirubinometer shows \>250 micromol/litre, check bilirubiun using SBR
* Any baby whose bilirubin level is at or above the treatment threshold for their postnatal age or is on phototherapy
* If baby appears severely jaundiced
* If haemolysis is likely cause
* Baby clinically unwell (not feeding well, dehydrated)
* Baby needs other blood tests other than SBR
125
When do you perform a neonatal blood spot screening occur in the UK
* 5-9 days of life
126
What conditions are screened for in the neonatal blood spot screen
* congenital hypothyroidism
* cystic fibrosis
* sickle cell disease
* phenylketonuria
* medium chain acyl-CoA dehydrogenase deficiency (MCADD)
* maple syrup urine disease (MSUD)
* isovaleric acidaemia (IVA)
* glutaric aciduria type 1 (GA1)
* homocystinuria (pyridoxine unresponsive) (HCU)
127
Define febrile convulsion
* seizures provoked by fever in otherwise normal children.
* Occurs in 6 months to 3 years old, happens in 3% children
128
What kind of infection usually precedes a febrile convulsion? And what type of seizure is it
* Viral infection
* Commonly tonic-clonic
129
Name and describe the differences between the sub-tyypes of febrile convulsions
Simple
* \<15 minutes
* Generalised seizure
* Typically no recurrence within 24hrs
* Complete recovery within an hour post-seizure
Complex
* 15-30 minutes
* Focal seizure
* May recurr within 24 hours
Febrile Status Epilepticus
* \> 30 minutes
130
Management of a febrile convulsion
* Admit children if:
* 1st seizure OR
* Features of complex seizure
* Recurrences:
* Teach parents how to use rectal diazepam or buccal midazolam
* Parents to phone ambulance if seizure lasts \>5 minutes
131
What is the overall risk of a further febrile convulsion
* 1 in 3
* Varies greatly depending on risk factors for further seizure, more likely if
* age of onset \< 18 months
* Fever \< 40
* Short fever duration before seizure (\< 1hr)
* FH of febrile convulsions
* child previously had complex febrile seizure
* Attending nursery - more likely to get viral illness
* No evidence to show regular antipyretics reducing chance of febrile convulsion recurring
132
What is the risk, if any, between febrile convulsions and development of epilepsey
* Childen with Hx of febrile convulsion at increased risk of developing epilepsey but risk is VERY SMALL
* Child with Hx of simple = 1 in 50 (2%)
* Child with Hx of complex = 1 in 20 (5%)
* Child with no Hx of febrile convulsions = 1 or 2 in 100 (1-2%)
133
What are the risk factors for developing epilepsey in a child
* FH
* Having complex febrile convulsions
* BAckground of neurodevelopmental disorder
134
What are the five autism spectrum disorders
* Autism
* Asperger's Syndrome
* Rett Syndrome
* Childhood disintegrative disorder
* Pervasive developmental disorder not otherwise specified (PDD-NOS)
* Diagnosed when criteria not met for specific disorder
135
In a child with diarrhoea, what are the indications for a stool culture
NICE
* Suspect septicaemia
* Blood and/or mucus in stool
* Immunocompromised child
Consider stool culture if:
* Child recently abroad
* Diarrhoea not improved by day 7
* Uncertain about the diagnosis of gastroenteritis
136
Define caput succedaneum
* Subcutaneous, extraperiosteal, collection of fluid that collects as a result of pressur on the baby's head during delivery
137
Define cephalhaematoma
* Haemorrhage between the skull and periosteum.
* Sweeling is sub-periosteal so limited by the boundaries of the baby's cranial bones
138
Compare similarities and differences between capu succedaneum and cephalhaematoma
Caput succedaneum
* Present at birth
* Typically over the vertex
* Crosses suture lines
* Resolves within days
Cephal Haematoma
* Typically develops several hours after birth
* Commonly in parietal region
* Does not cross suture lines
* May take months to resolve
Both
* Swelling on the head of newborn
* More common following prolonged and difficult deliveries
* Managed conservatively
139
What is the most common cause of hip pain in children
Transient synovitis
140
Define transient synovitis and common in what ages
* Transient inflammation of the synovium of the hip
* Children 2-10 years; **most common acute onset non-traumatic limp in children**
* Difficult to differentiate between transient synovitis and septic arthritis as children can still be unwell from preceeding viral illness
Septic arthritis is an orthopaedic emergency
141
What can be used to indicate joint pain as septic arthritis over transient synovitis. Describe this criteria
Kocher's Criteria:
* \> 38.5o
* Refusal to bear weight on affected limb
* Raised inflammatory markers
* ESR \> 40 mm/hr; CRP \> 20 mg/L
* Peripheral WCC \> 12.0 x109 cell/L
142
Name two acute onset joint pain conditions and two gradual onset joint pain conditions
Acute:
* Transient synovitis
* Septic arthritis
Gradual:
* Perthes Disease
* Slipped Upper Femoral Epiphysis (SUFE)
* Abnormal X-Ray
143
Describe the clinical features of Benign Acute Childhood Myositis (BACM)
* Presents with severe pain over both calves
* Raised Creatinine kinase
144
When do children achieve day and night time continence by
Age 3 - 4 years
145
Define nocturnal enuresis and two definition
* Involuntary discharge of urine by night in child aged 5 years or older
* In the absence of conggenital or acquired defects of the nervous system or urinary tract
* Primary - child has never achieved continence
* secondary - child dry for at least 6 months before
146
Management of nocturnal enuresis
* Routine and reward system MUST TRY FIRST
* Enuresis alarm
* 1st line for \<7yrs
* Desmopressin
* Considered for children over 5 years
* may be first line for \>7 years
* Oxybutynin - This is an anticholinergic medication that is used for nocturnal enuresis associated with overactive bladder. It is also used for urinary frequency, incontinence and neurogenic bladder instability.
* Imipramine - TCA. It can be used in nocturnal enuresis in children who have failed to respond to all other treatments and have undergone specialist assessment.
147
How is desmopressin monitored in the use of nocturnal enuresis
* Iniitiate
* Review in 4 weeks
* Continue for 3 months if no response
* Desmopressin should be withdrawn at regular intervals (1 week every three months) for full assessment
* Care in avoiding fluid overload
* Restrict fluid intake 1 hour before taking desmopressin until 8 hours after
* Gradual withdrawal needed for desmopressin
148
Define plagiocephaly
* Skull deformity producing unilateral occipital flattening, which pushes ipsilateral forehead ear forwards producing a parallelogram appearance
* Majority improve by age 3-5 due to adoption of upright posture
* More common since campaigns to encourage babies to sleep on their backs to reduce risk of SIDS
149
How could you manage plagiocephaly
* Re-assure parents
* Turn cot around to allow other side and take pressure off affected side
* give baby time to be on their tummy during the day - supervised
* Ensure all advice is in-line with prevention of SIDS
150
Difference with plagiocephaly and craniosynostosis
Plagiocephaly
* Parallelogram shaped head
* Unilateral occipital flattening
Craniosynostosis
* Premature fusion of skull bones
151
Define coeliac disease
* Sensitivity to gluten protein. Repeated exposure leads to villous atrophy leading to malabsorption
* Present before age 3, following introduction of cereals into diet
152
Genetic associations for coeliac disease
* HLA-DQ2 (95%)
* HLA-DQ8 (80%)
* Incidence 1:1000
153
Features of coelica diseaes in children
* failure to thrive
* Diarrhoea
* Abdominal distension
* Older children = anaemia
* Many cases not diagnosed until adulthood
154
Diagnosis of coeliac disease
* **Jejunal biopsy** - subtotal villous atrophy and crypt hyperplasia
* Screening antibodies: anti-endomysial and anti-gliadin
155
Describe how Imprinting works and name an example
* For the disease to occur, patient does not receive the gene from their father
* The mother's gene may be normal but it does not prevent the phenotype from occuring
* Prader-Willi
156
What kind of virus is the measles virus
RNA paramyxovirus
157
How is measles spread
Spread by droplets
158
Incubation period of measles
10-14 days
159
Infective period of measles
From prodrome until 4 days after rash starts
160
Features of measles
* Prodrome: irritable, conjunctivits, fever
* Koplik spots (before rash): white spots on buccal mucosa
* Rash: starts behind ears then to whole body; discrete maculopapular rash becoming blotchy and confluent
161
Investigations for measles
* IgM antibodies in oral fluids
* Can be detected within few days of rash onset
162
Management of measles
* Mainly supportive
* Admission: immunosuppressed or pregnant patients
* Notifeiable disease - inform public health england
163
Complications of measles (what is most common and what is most common cause of death)
* Otitis media - most common
* Pneumonia - most common cause of death
* Encephalitis
* 1-2 weeks after illness onset
* Subacute sclerosing panencephalitis
* very rare, presents 5-10 years post illness
* Febrile convulsion
* Keratoconjunctivitis
* Corneal ulceration
* Diarrhoea
* Increased incidence of appendicitis
* Myocarditis
164
How do you management contacts with measles
* If child not immunised against measels and comes into contact with someone who does, MMR should be offered
* Vaccine-induced antibodies develops more rapidly than that from natural infection
* Give within 72 hours
165
Clinical features of transposition of great arteries
* Cyanosis
* Tachypnoea
* Loud Single S2
* Prominent right ventricular impulse
* Egg-on-side appearance on CXR
166
Management of transposition of great arteries
* Maintenance od ductus arteriosus with prostaglandins
* Alprostadil (PGE1)
* *Misoprostol is also PGE1 but used to treat missed miscarriage, induce labour and induce abortion*
* Surgical correction is definitive treatment
167
When would you refer a child for developmental problems
* Does not smile 10 weeks
* Cannot sit unsupported at 12 months
* Cannot walk at 18 months
168
True or false: Hand preference before 12 months is normal
* False
* It is abnormal and may indicate cerebral palsy
169
What are the three most common gross motor problems in a developing child
* Variant of normal
* Cerebral palsy
* Neuromuscular disorders
* Duchenne Muscular dystrophy
170
What are some examples of trinucleotide repeat disorders
* Fragile X (CCG)
* Huntington's (CAG)
* Myotonic dystrophy (CTG)
* Friedreich's ataxia (GAA)
* Does not demonstrate anticipation
* Spinocerebellar ataxia
* Spinobulbar muscular atrophy
* Dentatorubral pallidoluysian atrophy
171
In trinucleotide repeat disorders, a phenomenon called anticipation occurs. What does this mean
* Phenomenon which leads to earlier age of onset in successive generations
* Repeat expansions are unstable and may enlarge
172
What are some risk factors for birth injuries
* Malpositioning
* Too large for pelvic outlet
* Manual maneuvres
* Forcep blades
* Ventouse deliveries
173
What are the three main injury categories at birth
* Soft tissue injury
* Nerve palsies
* Fractures
174
Examples of soft tissue injury at birth and description of each
* Capput succedaneum
* Cephalhaematoma
* Chignon
* Bruising
* Face, genitalia, buttocks after breech delivery
* Preterms bruise easliy from mild trauma
* Abrasions
* From scalp electrodes applied during labour
* Accidental scalpel incision at C-Section
* Forcep marks
* Face from pressure of blades - transient
* Subaponeurotic haemorrhage
175
Describe caput succedaneum
* bruising and oedemaof presenting part extending beyond sutures (margins of skulkl bones)
* Resolves in a few days
176
Describe cephalhaematoma
* Haematoma below the periosteum and confined within margins of skull sutures
* Usually Parietal bone
* Centre of haematoma is soft
* Resolves after several weeks (month or two)
177
Describe a chignon
* Oedema and bruising from ventouse delivery
178
Describe a subaponeurotic haemorrhage
* Very uncommon
* Diffuse, boggy swelling of scalp
* Blood loss may be severe and can lead to hypovolaemic shock and coagulopathy
179
How does subaponeurotic haemorrhage (subgaleal) differ to caput succedaneum or a cephalhaematoma
Subaponeurotic haemorrhage
* Diffuse, **fluctuant swelling** of head which may **shift with movement**. Palpation of the scalp has been described as a leather pouch filled with fluid.
* Can enlarge?
Caput succedaneum
* Does not cross suture lines, SAH does
Cephalhaematoma
* Both crosses suture lines but cephalhaematoma does not usually fluctuate or shift with movement
180
When do nerve palsies typically occur
* Breech deliveries
* Shoulder dystocia
181
Examples of nerve palsies in babies with description
Erb's Palsy
* C5 and C6 (upper nerve root)
* Can be accopmanied by phrenic nerve palsy causing elevated diaphragm
* Usually resolves completely (by 2 years) - refer to orthopaedic or plastic surgeon if not resolved by 2-3 months
Facial nerve palsy
* Compression of facial nerve against mother's ischial spine or pressure from forceps
* Unilateral with facial weakness on crying but etye remains open
* Transient
* Methylcellulose drops may be needed for eye
Cervical spine damage
* Rare
* Laack of movement below level of lesion
182
describe the possible fractures seen at birth
Clavicle
* From shoulder dystocia
* Snap may be heard at delivery or infant may have reduced arm movement or callus formation (lump) over clavicle at several weeks of age
* No treatment needed, good prognosis
Humerus/Femur
* From breech deliveries or shoulder sytocia, midshaft
* Deformity and reduced limb movement and pain
* Heal rapidly with immobilisation
183
What are some medical problems that you may see in preterm infants
A
* Need for resuscitation and stabilisation at birth
* Apnoea and bradycardia
B
* RDS
* Pneumothorax
* Bronchopulmonary dysplasia
C
* Resuscitation and stbailisation
* Hypotension
* Patent ductus arteriosus
* Intraventricular haemorrhage
* Periventricular leukomalacia
* Anaemia or prematurity
D
* Metabolic
* Hypoglycaemia, hypocalcaemia, electrolyte imbalances, osteopenia of prematurity
* Temperature control
* Nutrition
* Infection
* Jaundice
E
* Necrotising enteroclolitis
* Retinopathy or prematurity
* Iatrogenic
* Inguinal hernias
184
What must you do to stabilise a preterm or sick infant
* Airway and breathing prtoection
* Manage (clear airway, O2, CPAP)
* Monitor
* Temperatrue control
* Venous/Arterial lines
* Preipheral IV line
* Umbilical venous catheter
* Arterial line
* Peripherally iunserted central (PIC) lin for parenteral nutrition
* CXR +/- AXR
* Investigations
* Antibiotics
* Minimal handling
* Counsel parents and let them see baby
185
What are some investigations you would do when stabilising a preterm or sick infant
* FBC (Hb, Neutrophil, Plt)
* Blood urea, creatinine, electrolytes, lactate
* Culture: blood ± cerebrospinal fluid ± urine
* Blood glucose
* CRP/acute phase marker
* Coagulation screen
186
What would you monitor when stbailising a preterm or sick infant
* O2 saturation (aim 91-95% at preterm)
* HR, RR
* Temperature
* BP
* Blood glucose
* Blood gases
* Weight
187
Compare some features of preterm baby (23-27weeks) to term baby (37-42 wks)
*
188
How is a pneumothorax diagnosed in a baby, how is it managed and what are some precautions to prevent this
* Diagnos: cold transillumination of chest or CXR
* Tension pneumothorax needs urgent decompression with chest drain insertion
* Prevent: Ventilated with lowest pressure that provide adequate chest movement and satisfactory blood gases
189
What are some underlying causes of apnoea
* Hypoxia
* Infection
* anaemia
* Electrolyte imbalance
* Hypoglycaemia
* Seizures
* Heart failure
* Aspiration from GORD
* Premature: immature respiratory control
190
Management of apnoea
* resipratory stimulant: caffeine or gentle physicla stimulation
* CPAP or mechanical ventilation if frequent apnoeic episodes
* Often 20-30 s
191
What are some symptoms and signs of patnt ductus arteriosus
Symptoms
* Asymptomatic
* Apnoea (left to right shunt - breathless)
* Increased oxygen requirement
Signs
* Bradycardia
* Bounding pulse (from increased pulse pressure)
* HF signs from overload
192
Management of PDA in preterm
Symptomatic
* Prostaglandin synthetase inhibitor
* Indomethacin
* Ibuprofen
* Surgical ligation if pharm does not work
193
Compare the weight gain difference in term and pre term babies
* Term
* Double weight at 4.5 months
* Treble at 12 months
* Preterm (28 weeks)
* Double in 6 weeks
* Treble in 12 weeks
Need lots of nutrition to keep up with fast growht!
194
With regards to nutrition in preterm baby, what supplements need to be given
* Breast milk ASAP
* Fortified with phosphate, protein, calories and calcium and Vit D
* Formula milk - used but does not provide maternal immunity or breast milk benefits
* NEC risk with cow-milk based
* Parenteral nutrition in very imatture and sick infants (\<1kg)
* Risk of infection and thrombosis
* Iron supplements
* Iron loaded onto baby usually in last trimester
195
Define necrotising enteroclitis
Serious illness caused by inflammation of the gut in preterm babiees
196
Risk factors for NEC
* Ischaemic injury
* Bacterial invasion
* Cow's milk formula
197
Symptoms of NEC
* feeding intolerance
* abdominal distension
* bloody stools
* Progress to: abdominal discolouration, perforation and peritonitis.
198
Signs of NEC on AXR
* dilated bowel loops (often asymmetrical in distribution)
* bowel wall oedema
* pneumatosis intestinalis (intramural gas)
* portal venous gas
* pneumoperitoneum resulting from perforation
* air both inside and outside of the bowel wall (Rigler sign)
* air outlining the falciform ligament (football sign)
199
What is the management of NEC
* Bowel rest - STOP oral feeding
* Broad spectrum anti-iotics (aerobic and anaerobic cover)
* Parenteral nutrition
* Mechanical ventilation and circulatory support
* SURERY - bowel perforation- resction of bowel
200
What are some considerations when using oxygen therapy to correct hypoxaemia
* Keep sats 91-95%
* High saturations may lead to increased free radicals
* sats \> 95% increased risk of retinopathy of prematurity
* sats \<91% increased risk of NEC and death
Start neonatal resuscitation on 21-30% oxygen in preterms - avoid saturating to 95%. Air should be used in term infants
201
What are some long-term sequelae for NEC
* Stricture development
* Malabsorption in extensive bowel resection
* Increased risk of poor neurodevelopmental outcome
202
Define PPHN
* failure of the normal circulatory transition that occurs after birth - ie there is no decrease in pulmonary resistance at birth
* characterized by marked pulmonary hypertension that causes hypoxemia secondary to right-to-left shunting of blood at the foramen ovale and ductus arteriosus - these dont close as pulmonary resistance still high3
* Presents as cyanosis at birth, heart murmurs and signs of HF are often absent
203
What are the conditions that are associated with persitent pulmonary hypertension of the newborn
* Birth asphyxiation
* meconium aspiration
* Septicaemia
* RDS
* Congenital diaphragmatic hernia
204
Investigations for PPHN
* CXR
* Normal heart size
* Oligaemia
* Urgent echocardiogram
* Exclude congenital heart disease
* Identifty signs of pulmonary HTN (raised pulmonary pressures and tricuspid regurgitation)
205
Management of PPHN
* Infants require mechanical ventilaion and circulatory support for adequate oxygenation
* Vasodilators
* Nitric oxide
* Sildenafil
* ECMO in severe bu reversible cases
206
Define transient tachypnoea of the newborn
* MOst common cause of respiratroy distress in term infants
* Caused by delay in resorption of lung liquid
* Most common after C-section birth
* CXR may show fluid in horizontal fissure
* MAy need ambient oxygen
* Usually resolves within first day of life but can take several days to resolve completely
* Diagnosed after consideration and exclusion of other causes (infection)
207
What are some risk factors for meconium aspiration
* Increasing gestational age
* 20-25% babies delivered by 42 weeks affected
* Maternal
* Hx maternal HTN
* Pre-eclampsia
* Chorioamnionitis
* Smoking
* Subsatnce abuse
208
Pathogenesis of meconium aspiration
* May be response to foetal hypoxia before or at delivery
* Infant may be gasipng and then aspirating meconium
* Meconium causes mechanical obstruciton and chemical pneumonitis predisposing infant to infection and respiratory distress
209
Complications of meconium aspiration
* Lobar collapse and consolidation
* Pneumothorax
* Pneumomediastinum
* PPHN -\> difficult to achieve adequate oxygenation despite high pressure ventilation
* Morbidity and mortality
210
What organism causes ophthalmia neonatorum
* Neisseria gonorrhoea
* Gram negative diplococcus
* Obligate anaerobe
* Conjunctivites
211
What is the most common occular malignancy found in children
Retinoblastoma
Average age of diagnosis= 18 months
212
Inheritence pattern of retinoblastoma
Autosomal dominant
213
Underlying pathophysiology/genetic defect in retinoblastoma
Loss of function of retinoblastoma tumour suppressor gene on chromosome 13
10% cases are hereditary
214
What are some possible features of retinoblastoma
* absence of red reflex (replaced by white pupil, leukocoria)
* Most common presenting symptom
* Strabismus
* Unable to align eyes together normally (cross-eyed)
* Visual problems
* *Fhx of enucleation*
215
Management of retinoblastoma
* **Enucleation**
* Dependent on how advanced tumour is:
* External beam radiation therapy
* Chemotherapy
* Photocoagulation
216
Prognosis of retinoblastoma
Excellent prognosis, \>90% surviving into adulthood
217
Causative agent of roseola infantum
Human herpes virus 6
## Footnote
*Exanthem subitum, sixth disease*
218
Incubation period of roseola infantum (HHV6)
5-15 days
Affects 6 months to 2 yo
219
Features of roseola infantum
* High fever: lasts a few days followed by a:
* Maculopapular rash
* Nagayama spots
* Papular enanthem on uvula and soft palate
* Febrile convulsion (10-15%)
* Diarrhoea and cough
220
What are some possible consequences of HHV6 infection
* Aseptic meningitis
* Hepatitis
221
True or false: School exclusion is needed for roseola infantum
Fals, school exclusion is NOT needed
222
Define croup
* URTI in infants and toddlers
* Characterised by stridor (due to laryngeal oedema and secretions)
* Barking cough
223
What is the common causative agents for croup
Parainfluenza
224
What ages are susceptible to corup
6 months - 3 years
More common in autumn
225
Features of croup
* Stridor
* Barking cough (worse at night)
* Fever
* Coryzal symptoms
226
What are some features of mild croup with reference to:
* Cough
* Stridor
* Work of breathing
* General appearance
* Occasional barking cough
* No audible stridor at rest
* No/mild suprasternal and/or intercostal recession
* Child is happy and is prepared to eat, drink, and play
227
What are some features of moderate croup with reference to:
* Cough
* Stridor
* Work of breathing
* General appearance
* Frequent barking cough
* Audible stridor at rest
* Suprasternal and sternal wall recessions at rest
* No or little distress or agitation
* Child can be placated and is interested in its surroundings
228
What are some features of severe croup with reference to:
* Cough
* Stridor
* Work of breathing
* General appearance
* Frequent barking cough
* Prominent inspiratory (and occassionally expiratory) stridor at rest
* Marked sternal wall recessions
* Significant distress and agitation, or lethargy or restlessness (sign of hypoxaemia)
* Tachycardia occurs with more severe obstructive symptoms and hypoxaemia
229
When should you admit a child with croup
Admit if child has moderate or severe croup and any of the features below:
* \< 6 months age
* Known upper airway abnormalities (laryngomalacia, Down's Syndrome)
* Uncertainty about diagnosis
* Epiglotittis, bacterial tracheitis, peritonsillar abscess, foreign body inhalation
230
Investigations for croup
* clinical diagnosis
* CXR:
* PA view shows subglottic narrowing -\> Steeple sign
* Lateral view in epiglottitis shows swelling of epiglottis - thumb sign
231
Management of croup
* Single dose oral dexamethasone (0.15mg/kg) regardless of severity
* Prednisolone is alternative if dexamethasone not available
Emergency treatment:
* High flow oxygen
* Nevulised adrenaline
232
Most common pathogen that casues bronchiolitis
* Respiratory Syncytial virus (RSV) 75-80%
* Other
* Mycoplasma
* Adenovirus
233
What age group are commonly affected with bronchiolitis
LRTI in \<1 year olds
* 90% 1-9 months old
* Peak incidence 3-6 motnsh
* MAternal IgG provides protection to newborns against RSV
* Higher incidence in winter
234
Features of bronchiolitis
* Coryzal symptoms FIRST, then
* Dry cough
* Breathlessness
* Wheeze, inspiratory crackles
* Feeding difficulties associated with dyspnoea - \> admit
235
What are some features of bronchiolitis that is recommended by NICE for immediate referal
* Apnoea (observed or reported)
* Child looks unwell
* Severe respiratory distress
* Grunting, recession, RR \> 70
* Central cyanosis
* Persistent O2 sat \<92% on air
236
What factors would indicate that a clinicaian _considers_ refering to hospital
* RR \>60
* Difficulty breastfeeding or inadequate oral fluid intake (50-75%)
* Clinical dehydration
237
Investigation for bronchiolitis
Immunofluorescence of nasopharyngeal secretion may show RSV
238
Management of bronchiolitis
SUPPORTIVE
* Humidified O2 via head box if O2 sats \<92%
* Nasogastric feeding ifinadequate feed
* Suction sometimes for excessive secretions
239
Define microcephaly
* Occipito-frontal circumference \<2nd centile
240
Causes of microcephaly
* Normal variant
* Familal
* Congenital infection
* Perinatal brain injury (HIE)
* Foetal alcohol syndrome
* Syndromes : Patau
* Craniosynostosis
241
# Define the following:
* Neonatal death
* Early
* Late
* Puerperal death
* Prinatal death
* Miscarriage
* Neonatal death = death 0-28 days of birth
* Early = within first week of life
* Late = after 7th day of life but before 28 days
* Puerperal death = maternal death within puerperal period (6 weeks post birth)
* Perinatal death = classify deaths as a result of obstetric events (stillbirths)
* Miscarriage = death in utero before 24 weeks gestation
242
Define cerebral palsy
* Umbrella term for permanent disorder of movement and/or posture and of motor function due to non-progressive abnormality in the developing brain
243
The motor disorders of cerebral palsy are often accompanied by disturbances of?
* Cognition
* Communication
* Vision
* Perception
* Sensation
* Behaviour
* Seizure disorder
* Secondary musk problems
244
What are some causes of cerebral palsy
Antenatal origin (80%)
* Cerebrovascular haemorrhage
* Ischaemia
* Cortical migration disorders
* Structural meldevelopment of brain
* *Associations with gene deletions, others to genetic syndromes and congenital infection*
Intrapartum (10%)
* Hypoxic-ischaemic injury before or during delivery
Postnatal causes (10%)
* Meningitis
* Encephalitis
* Encephaopathy
* Head trauma from AI or NAI
* Symptomatic hypoglycaemia
* Hydrocephalus
* Hyperbilirubinaemia
245
What are some early features of cerebral palsy
* Abnormal limb and/or trunk posture and tone
* Delayed motor milestones
* Slowed head growth
* Feeding difficulties, with oromotor incoordination, slow feeding, gagging and vomiting
* Abnormal gait once walking achieved
* Asymmetric hand function before 12 months of age
* Primitive reflexes may persist
246
Diagnosis of cerebral palsy
* Clinical diagnosis
* Posture
* Pattern of tone in limbs and trunk
* Hand function
* Gait
247
How is cerebral palsy categorised and what are thes
Categorised based on neurological features
* Spastic (90%)
* Bilateral, unilateral, not otherwise specified
* Dyskinetic (6%)
* Ataxic (4%)
* Other
In the past description was based on parts of body affected (hemiplegia, quadriplegia, diplegia)
248
How is gross motos function level (functional ability) measured in Cerebral palsy
Gross motor function classification system (GMFCS)
* Level I
* Walks without limitations
* Level II
* Walks with limitations
* Level III
* Walks using a handheld mobility device
* Level IV
* Self-mobility with limitations; may use powered mobility
* Level V
* Transported in manual wheelchair
249
Describe some differences in normal and abnormal development that may be seen in cerebral palsy
250
What are some early warning/abnormal signs you may see in cerebral palsy
* Maintenance of primitive reflexes
* Developmental delay
* Poor feeding/sucking
* Irritability
* Hand dominance before 2 years
* Toe-walking
* Epilepsey
* Scissoring of legs
251
Describe the lesion and some features of spastic cerebral palsy
* Upper motor neurone (pyramidal or coticospinal tract) damage - cortical damage
* GABA transmission reduced so nerves are over-excited, leading to **hypertonia**
* Scissor gait (adductor muscles partly flexed)
* Toe-walk (calves flexed)
* Really tight or stiff muscles - jerky movements
* Hemiplegia - unilateral, upper \>\> lower limb
* Quadraplegia - all four limbs, upper \>\> lower limb, most diabling form. Central hypotonia, poor head control
* Diplegia - all four limbs affected, lower \>\> upper limbs. Assocaited with prematuriy (periventricular leukoplakia and intraventricular hamorrhage). Cognition often normal (lesion in white matter, so grey matter spared)
252
Describe the lesion and some features of dyskinetic (athetoid) cerebral palsy
* Damage or injury to basal ganglia
* Helps initiate and prevent movements
* Damage leads to loss of ability to prevent movements
* Involuntary movements
* Dystonia(random, slow, uncontrolled movements in limb and trunk)
* +/- chorea (dance like movements as small uncontrolled movments seem to move from muscle to muscle
253
Describe the lesion and some features of ataxic cerebral palsy
* Damage to cerebellum
* Coordination, fine movements
* Clumsy or unstable movements
* Poor balance
254
Management of cerbral palsy
* MDT approach
* Neurologist
* Rehabilitation specialist
* OT/PT
* SALT
* PT
* Build strength and improve walking ability
* Muscle relaxants
* Botulinum toxin may be injected for hypertonicity
* Helps with pain associated with hypertonus
* Surgery
* Loosening tight muscles
* Straightening out bones
255
Define hypoxic-ischaemic encephalopathy (HIE)
* Hypoxic-ischaemic injury to organs (braing) due to compromised placental or pulmonary gas exchange
* Cardiorespiratory depression occurs leading to hypoxia, hypercapnia, metabolic acidosis
* Leads compromised cardiac output and hypoxic-ischaemic injury
256
What are some causes/risk factors for HIE
* Reduced gas exchange at placenta
* Excessive/prolonged uterine contractions, placental abruption, ruptured uterus
* Interrupte umbilical blood flow
* Cord compression (shoulder dystocia, cord prolapse)
* Maternal factors
* Decreased placental perfusion, maternal hypotension or hyeprtension
* Foetal factors
* IUGR, anaemia
* Cardiorespiratory adaptation at birth
* Failure to breathe
257
When do the clinical manifestations of HIE usually occur
Immediately or upt to 48 hours after asphyxia
258
Pathophysiology of HIE
* Failed oxygenation across placenta, umbilicus
* Cardiorespiratory depression occurs leading to hypoxia, hypercapnia, metabolic acidosis
* Leads compromised cardiac output and hypoxic-ischaemic injury
* Neuronal damage may be immediate from primary neuronal death OR
* delayed damage from reperfusion injury (ie there is a primary energy failure and secondary energy fialure)
* This window of delay between the two injuries offer opportunity to treat
259
What are some effects on end-organs of HIE
Encephalopathy
* Abnormal neurological signs
* Seizures
Respiratory failure
* Persistent pulmonary hypertension of the newborn
Myocardial dysfiunction
* Hypotension
Metabolic
* HypOglycaemia
* HypOcalcaemia
* HypOnatraemia
Other
* Renal failure
* DIC
260
How is HIE graded
* Mild
* Irritable, responds excessively to stimulation, staring of eyes, hyperventilation, hypertonia, imparied feeding
* Moderate
* marked abnormal movements, hypotonic, cannot feed, may have seizures
* Severe
* No normal spontatneous movements or response to pain, tone in limbs fluctuate between hypotonia and hypertonia, seizures are prolonged and refractory to treatment, multi-organ failure present
261
How is HIE managed
* Nueroprotection
* **Therapeutic hypothermia** (33-35)
* Monitor
* aEEG - detect abnormal brain activity and seizures
* Organ support
* Respiratory
* AED
* Fluid restriction due to transient renal impariemtn
* Treatment of hypotension by volume and inotrope support
* Monitor metabolic problems
* low glucose
* low Na
* low Ca
262
Define hydrocephalus
* Accumulation of CSF in the brain
* Can be congenital, associated with cerebral malformations or obstruction to the flow of CSF leading to dilatation of ventricular system proximal to site of obstruction
263
Name and describe the two types of hydrocephalus (lesions)
* Communicating
* Obstruction at the arachnoid vili (where CSF absorbed)
* Non-communicating
* Obstruction within ventricular system or aqueduct
264
What are some causes of hydrocephalus
Non-communicating (obstruction to venticula system)
* Congenital malformation
* Aqueduct stenosis
* Atresia of ouflow foramina of 4th ventricle
* Chiari malformation (cerebellar tonsils herniation through foramen magnumg)
* Posterior fossa neoplasm or vascular malformation
* Intraventricular haemorrhage in preterm infant
Comomunicating (failure to reabsorb CSF)
* Subarachnoid haemorrhage
* Meningitis (pneumococcal, tuberculous)
265
Clinical features of hydrocephalus
* Disproportionately large head
* Skull sutures have not yet fused
* Sun setting of eyes (fixed downward gaze)
* advanced sign
* Signs and symptoms of raised ICP
* Older children
266
Diagnosis of hydrocephalus
* Can be diagnosed on antenatal US screening or in preterm infants on routine cranial USS
* Suspected hydrocephalus
* 1st = cranial USS (in infants) OR MRI
* Head circumference measured and monitored and plotted oer time
267
Aim of hydrocephalus managmeent
* Symptomatic relief of raised ICP and minimise risk of neurological damage
268
Management of hydrocephalus
* Insertion of ventriculoperitoneal shunt
* sometimes endoscopic treatment to create ventriculostomy
269
Most common cause of thrombocytopenia in childhood
Immune thrombocytopenia (ITP)
incidence 4 per 100,000 children per year
270
Pathophysiology of ITP
* Destruction of circulating platelets by antiplatelet IgG
* May be some megakaryocytes in bone marrow as compensatory response
271
Clinical features of ITP in children
* Present between 2-10yo
* Onset 1-2 weeks post viral infection
* Features:
* Petechiae
* Pupura
* Superficial bleeding
272
What are some complications of ITP in children
* Epistaxis
* And other mucosal bleeding
* Profuse bleeding uncommon
* Intracrainial bleed
* Serious but rare
273
Differential diagnosis for ITP in children
* Wiskott-Aldrich
* Bernard Soulier
* Acute leukaemia
* Aplastic anaemia
274
Diagnosis of ITP in children
* Diagnosis of exclusion
Careful attention to:
* History
* clinical features
* Blood film
* Examination
* Anaemia, neutropenia
* Hepato-splenomegaly
* Lymphadenopathy
* Bone marrow examination if child is going to be treated with steroids
275
Management of ITP in children
* 80% is acute, benign and self-limiting, resoplving in 6-8 weeks
* Manage at home
* Do not need treatment even if their platlet count is \<10x109/L but treatment should be given if there is evidence of major bleeding or persistent minor bleeds that affect QoL
* Oral prednisolone
* IV anti-D
* IVIG
* Pletlet transfusions in life-threatening - needs admission
* Avoid trauma (contact sport) whilst platelet counts low
276
What is chronic ITP
* When platlent count remains low 6 months after diagnosis
* 20%
277
Management of chronic ITP
* Supportive
* Screen for SLE if chronic ITP
278
What is the most common malignancy affecting children
Acute Lymphoblastic leukaemia (ALL)
80% of childhood leukaemias
279
Peak incidence and boys or girsl more affected in ALL
* 2-5 years
* Boys \>\> girls
280
Features of ALL
* Bone marrow failure
* Anaemia - tired and pallor
* Neutropenia - frequent and severe infections
* Thrombocytopenia -easy bruising and petechiae
* Bone pain (bone infiltration)
* hepatosplenomegaly (extra-medullary haematopoiesis)
* Fever in 50% new cases
* testicular swelling
281
Types of ALL in children
* Common ALL (75%)
* CD10+ve, pre-B phenotype
* T cell ALL (20%)
* B cell ALL (5%)
282
Poor prognostic factors of ALL
* \<2 years or \>10 years
* WBC \> 20x109/L at diagnosis
* T or B cell surface markers
* Non-caucasian
* Male
283
Pathophysiology of retinopathy of prematurity
* Affects dvelolping blood vessels at the junction of the vascularise and non-vascularised retina
* Vascular proliferation, which may progress to retinal detachment, fibrosis and blindness
284
Cause of retinopathy of prematurity
* Excessive oxygen use
* Prematurity
285
How is retiopathy of prematurity managed
* Screen susceptible preterm infants (≤1500g birthweight or \<32 weeks gestation)
* Laser therapy
* Intravitreal anti-VEGF (being investigated)
286
What are some risk factors for haemorrhages/intraventricular haemorrhages
* Very low birthweight infants (\<1500g)
* Perinatal asphyxia
* RDS
* _Pneumothorax_
287
How is an intraventricular haemorrhage identified
Cranial ultrasound scans
288
Difference between a small and large intraventricular haemorrhage
* Small = confined to germinal matrix
* Large = extends to ventricles
289
What are some complications of a large Intraventricular haemorrhage
* Ventricular dilatation
* Hydrocephalus
* separate sutures, tense fontanelle
* May need ventriculoperitoneal shunt, or remove CSF by LP or ventricular tap
* Cerebral palsy
* Periventricular white matter brain injury
* Periventricular leukomalacia (bilateral loss of white matter)
290
What would you see on imaging (US) of periventricular leukomalacia and what does this signify
* Cystic lesions, bilateral periventricular
* Loss of white matter - spastic diplegia, with cognitive impairment
291
What is the major route of transmission of HIV in children? What are the other routes of transmission
* **Mother-to-child transmission**
* Intrauterine (pregnancy)
* Intrapartum (delivery)
* Breastfeeding (post-partum)
* Infected blood products
* Contaminated needles
* Sexual abuse
292
Children less than _____ months of age who are born to infected mothers will have transplacental maternal _____ (3 words,); therefore, at this age a positive antibody test confirms HIV _____ but not HIV \_\_\_\_\_.
Children less than **_18_** months of age who are born to infected mothers will have transplacental maternal **_IgG HIV antibodies_**; therefore, at this age a positive antibody test confirms HIV **_exposure_** but not HIV **_infection_**.
293
How is HIV diagnosed in children
\>18 months
* HIV antibody detection
\<18 months
* HIV DNA PCR
* All infants born to HIV-infected mothers should be tested for HIV whether or not they are symptomatic
294
What would suggest an infant is not infected in terms of how HIV is diagnosed
* Two negative HIV DNA PCR within first 3 months of life, at least 2 weeks after postnatal ART (antiretroviral therapy)
* Confirmed by the loss of maternal HIV antibodies from infant's circulation after 18 months age
295
Describe two phenotypes of children who have been infected with HIV in terms of disease actrivity
* Rapid progression and onset of AIDS in the 1st year of life
* Asymptomatic for months or years before progressing to clinical disease
* Some asymptomatic children are onl;y identified in adolescence at routine screening following diagnosis of another family member
296
Clinical presentation of HIV in children varies with degree of immunocompromise. Describe some features of a) mild and b) moderate phenotypes
Mild
* Lymphadenopathy
* Parotic enlargement
Moderate
* Recurrent bacterial infections
* Candidiasis
* Chronic diarrhoea
* Lymphocytic interstitial pneumonitis
* This can look like TB, but its not
* May be cause by response to HIV infection or related to EBV infection
297
Clinical presentation of HIV in children varies with degree of immunocompromise. Describe some features of severe AIDS diagnoses
* Opportunistic infections
* PCP
* Severe growth faltering
* Encephalopathy
* Malignancy
* Rare
298
Management of HIV in children
* Antiretrovirals (ART)
* 3 or 4 drugs
* Prophylaxis
* PCP - cotrimoxazole
* infants with HIV or older children with low CD4 counts
* Immunisation
* Consider influenza, Hep A/B, VZV
* Do NOT BCG
* MDT
* see with family
* Compliance
* Planning for future (sex, fertility, pregnancy)
* Psychological support
299
The decision to start ART in HIV is based on what factors
* Clinical status
* Viral load
* CD4 count
Infants should always start ART after diagnosis as they have a higher risk of disease progression
300
What are some factors to help reduce the vertical transmission of HIV
* Maternal **ART** during prengnacy and intrapartum -achieve undetectable viral load
* **PeP** (post exposure) to infant after delivery
* Avoid **breastfeeding**
* Active management of labour and delivery
* Avoid prolonged ROM and unecessary instrumentation (forceps)
* Prelabour c-section
* if maternal viral load is detectable close to expected date
Mothers who are not taking ART and who breastfeed transmit HIV in 25-40% of infants
301
Incidence of pneumonia peaks in infance and old age, but is relatively high in childhood. Major cause of mortality in low and middle income countries. What are some causes of pneumonia in a **newborn**
* E coli
* Listeria monocytogenes
* Group B Streptococcus
302
What are some causes of pneumonia in **infants and young children**
* RSV
* Chalmydia trachomitis
* Streptococcus pneumoniae
* Haemophilus influenzae
* Bordatella pertussis
* Staphylococcus aureus
* Infrequent but serious
303
What are some causes of pneumonia in **children over 5 years of age**
* Mycoplasma pneumoniae
* Streptococcus pneumoniae
* Chlamydia pneumoniae
304
What are the symptoms of pneumonia in a child
* Fever
* Cough
* Rapid breathing
* Preceded by URTI
* Lethargy
* Poor feedgin
* Unwell child
* Localised chest, abdo or neck pain
* Features of pleural irritation -\> bacterial infection
Consider pneuimonia in children with neck stiffness or acute abdominal pain
305
What are some signs on examination in a child with pneumonia
* Tachypnoea
* Very sensitive to pneumonia (unlike in asthma)
* Nasal flaring and chest indrawing/recession (work of breathing)
* Decreased oxygen saturations
* Maybe some end-inspiratory crackles
306
What are some investigations for a child with pneumoina
* CXR to confirm diagnosis
* Cannot reliably differentiate between viral and bacterial pneumonia
* Blood cultures, urine cultures, LP (in young)
* Nasopharyngeal aspirate in younger children
* identify viral causes
* Blood tests are generally unhelpful in differentiating viral or bacterial cause
307
Most affected children (pnumonia) can be managed at home. What are some indications for admission
* Oxygen saturation \<92%
* Recurrent apnoea
* Grunting
* Inability to maintain adequate fluid/feed intake
308
Management of pneumoniaa in a child
Choice of antibiotic dependent on childs age and severity of illness:
* Newborns - IV broad-spectrum
* Older infants - oral amoxicillin
* Complicated/unresponsive pneumonia - co-amoxiclav
* \>5 yo - amoxicillin or oral macrolide (erythromycin)
309
Prognosis of pnuemonia in a child
* Full recovery
* Follow up not generally needed
* Those with lobar collapse should have repeat CXR in 4-6 weeks to check normal lung fields
310
What are some causes of acute onset limb pain
* Osteomyelitis
* Bone tumours
* Septic arthritis
311
Where is the most common site of infection in osteomyelitis
* Distal femur and proximal tibia, but any bone may be affected
Infection of the metaphysis of long bones
312
Spread of osteomyelitis in children
* Haematogenous
* But may be direct spread from wound
313
Causative organisms of osteomyelitis in children, those with sickle cell anaemia and immunodeficient
* **Staphylococcus aureus**
* Streptococcus
* Haemophilus influenzae (if not imunised)
Children with sickle cell anaemia
* Staphylococcus
* Salmonella
Immunodeficient
* TB
314
How does osteomyelitis present
* Painful and immobile limb (pseudoparesis)
* Febrile
* Swelling and tenderness over infected site (erythematous and warm)
315
Investigations for osteomyelitis in children
* **Blood cultures**
* **Usually positive (due to haematogenous spread)**
* WCC and CRP raised
* X-ray
* Ultrasound
* MRI
* Radionuclide bone scan if site of infection uncleear
316
Management of osteomyelitis
* Parenteral (IV) antibiotics immediately for several weeks
* Aspiration or surgical decopmression os subperiosteal spave
* Atypical presentation or immunodeficient child
* Surgical drainage
* Unresponsive to antiboiotic therapy
* Limb rest in splint
Long antibiotic therapy as poor penetration in joint infection
317
Complications of osteomyelitis
* Bone necrosis
* Chronic infection
* Limb deformity
* Amyloidosis
318
Define retinoblastoma
* Malignant tumour of retinal cells
* Rare, 5% of severe visual impariment in children
* Affects one or both eye
319
Retinoblastoma may affect one or both eyes. All bilateral tumours are \_\_\_\_\_, as are about 20% of unilateral cases. The retinoblastoma susceptibility gene is on chromosome \_\_\_\_\_, and the pattern of inheritance is autosomal \_\_\_\_\_, but with incomplete penetrance. Most children present within the first 3 years of life. Children from families with the hereditary form of the disease should be screened regularly from birth.
Retinoblastoma may affect one or both eyes. All bilateral tumours are **_hereditary_**, as are about 20% of unilateral cases. The retinoblastoma susceptibility gene is on chromosome **_13_**, and the pattern of inheritance is autosomal **_dominant_**, but with incomplete penetrance. Most children present within the first **_3_** years of life. Children from families with the hereditary form of the disease should be screened regularly from birth.
320
What is the most common presentation of retinoblastoma
* White pupillary reflex
* Squint
321
Investigations for retinoblastoma
* MRI and examination under anaesthetic
* Tumours are frequently multifocal
322
Treatment/Management of retinoblastoma
* Aim is to cure and preserve vision
* Management based on opthalmological findings
* Enucleation of eye
* Advanced disease
* Chemotherapy and laser therapy
* Bilateral disease, chemo to shrink tumours
* Radiotherapy
* Advanced disease
* Reserved for treatment of recurrence
323
Prognosis of retinoblastoma
* Most patients are cured but may be visually imparied
* Significatn risk of second malignancy among survivors of hereditary retinoblatoma
324
In someone treated with retinoblastoma, what second malignancy has an increased risk of occuringh
Sarcoma
325
Clinical Features of malrotation
* Presents fiurst 1-3 dyas of life with obstruction from Ladd bands obstructing the duodenum or volvulos
* May present at any age with volvulus causing obstruction and ischaemic bowel
Features
* Billous vomiting
* Abdominal pain
* Peritonitis or ischaemic bowel tenderness
326
Investigation for malrotation with billous vomiting
* Upper GI contrast study to assess intestinal rotation
327
Management of malrotation
* Surgical emergency
* Surgicla correction
328
At what age is considered to be premature sexual development
Development of secondary sexual characteristics
* \<8 in females
* \<9 in males
329
What are the four recognised patterns of premature sexual development
* Precocious puberty
* Thelarche
* Adrenarche
* Isolated premature menarche
330
Precocious puberty is categorised according to the levels of the pituitary-derived gonadotrophins, FSH and LH. What are the two categories
* Gonadotrophin dependent - Central or True precosious puberty
* Premature activation of hypothalamic-pit-gonadal axis (HPG axis).
* Pubertal development is normal = **consonant**
* Gonadotrophin independent - Pseudo or False precocious puberty
* Excess sex steroids outside of pituitary gland
* Pubertal development is abnormal = **dissonant**
331
_Female Precocious puberty_
The _____ are very sensitive to secretion of gonadotrophins from the pituitary gland, so gonadotrophin-\_\_\_\_\_ precocious puberty is fairly common in girls. It is usually _____ or familial. Pathological causes of precocious puberty in girls are rare and can be secondary to either:
* gonadotrophin-independent causes such as excess androgens from _____ \_\_\_\_\_ _____ (one condition) or _____ tumours, presenting with pubic and axillary hair, adult body odour, acne, and virilization of the genitalia before breast development
* gonadotrophin-dependent causes such as pituitary \_\_\_\_\_, where pubertal development will be \_\_\_\_\_, but perhaps rapid.
\_\_\_\_\_ examination of the ovaries and uterus
is helpful in assessing the progress of puberty. The uterus will change from an infantile ‘\_\_\_\_\_’ shape to ‘\_\_\_\_\_’ shape with the progression of puberty and the endometrial lining can be identified close to menarche.
The **_ovaries_** are very sensitive to secretion of gonadotrophins from the pituitary gland, so gonadotrophin-**_dependent_** precocious puberty is fairly common in girls. It is usually **_idiopathic_** or familial. Pathological causes of precocious puberty in girls are rare and can be secondary to either:
* gonadotrophin-independent causes such as excess androgens from **_congenital_** **_adrenal_** **_hyperplasia_** or **_adrenal_** tumours, presenting with pubic and axillary hair, adult body odour, acne, and virilization of the genitalia before breast development
* gonadotrophin-dependent causes such as pituitary **_adenoma_**, where pubertal development will be **_consonant_**, but perhaps rapid.
**_Ultrasound_** examination of the ovaries and uterus
is helpful in assessing the progress of puberty. The uterus will change from an infantile ‘**_tubular_**’ shape to ‘**_pear_**’ shape with the progression of puberty and the endometrial lining can be identified close to menarche.
332
Male precocious puberty
The testes are relatively _____ to secretion
of gonadotrophins from the pituitary gland, so
gonadotrophin-dependent PP is _____ in boys. It is important to exclude a pathological
cause. Examination of the _____ may be helpful:
* bilateral _____ of the testes, with testicular volumes greater than _____ mL, suggests gonadotrophin-\_\_\_\_\_ PP. This can be caused by an _____ \_\_\_\_\_ and rarely by secretion of _____ from a liver tumour
* _____ testes suggest a gonadotrophin _____ cause, e.g. adrenal pathology such as a _____ or _____ \_\_\_\_\_ \_\_\_\_\_
* a unilateral enlarged testis suggests a _____ tumour.
Tumours in the hypothalamic region are best investigated by cranial _____ scan.
The testes are relatively **_insensitive_** to secretion
of gonadotrophins from the pituitary gland, so
gonadotrophin-dependent PP is **_uncommon_** in boys. It is important to exclude a pathological
cause. Examination of the **_testes_** may be helpful:
* bilateral **enlargement** of the testes, with testicular volumes greater than **_4_** mL, suggests gonadotrophin-**_dependent_** PP. This can be caused by an **_intracranial_** **_tumour_** and rarely by secretion of **_B-HCG_** from a liver tumour
* **_prepubertal_** testes suggest a gonadotrophin **_independent_** cause, e.g. adrenal pathology such as a **_tumour_** or **_congenital_** **_adrenal_** **_hyperplasia_**
* a unilateral enlarged testis suggests a **_gonadal_** tumour.
Tumours in the hypothalamic region are best investigated by cranial **_MRI_** scan.
333
Biochemical abnormalities in gonadotrophin-dependent precocious puberty
* LH ++
* FSH +
* Oestrogen from ovary ++
* Testosterone from:
* Testes ++
* Adrenals +
334
Biochemical abnormalities in gonadotrophin-independent precocious puberty
* Low FSH Low LH
335
Causes of gonadotrophin-dependent precosious puberty
* Idiopathic/familial
* CNS abnormalities
* Hydrocephalus
* Acquired (post-irradiation, infection, surgery, brain injury)
* Tumours
* Hyp**o**thyroidism
336
Causes of gonadotrophin-independent precocious puberty
* Adrenal disroders
* Tumours
* congenital adrenal hyperplasia
* 21 hydroxylase deficiency - salt losing crisis (low aldo, low cortisol, high sex steroids)
* Ovarian tumour (granulosa cell)
* Testicular tumour (Leydig cell)
* Exogenous sex steroids
337
What are the management aims of precocious puberty
* Detection and treatment of underlying pathology
* MRI for intracranial tumours (males)
* Reducing rate of skeletal maturation
* Assess bone age
* Early growth spurt may result in early cessation of growth and reduction in adult height
* Address psychological/behavioural difficulties
338
Define delayed puberty
Absence of pubertal development by 14 in females and 15 in males
339
In contrast to precocious puberty, delayed puberty is more common in _____ due to relative insensitivity of the _____ to gonadotrophin secretion. Most commonly, this is _____ delay in growth and puberty, often with a _____ history of delayed puberty. It is a variation of the normal _____ of puberty rather than a pathological condition. It may also be induced by dieting or excessive physical training. An affected child will have delayed sexual changes compared with his/her peers, and bone age would show moderate
delay. The legs will be long in comparison to the back. Eventually, the target height will be reached as growth in affected children will continue for longer than in their peers. The condition may cause psychological upset from teasing, poor self-esteem, and disadvantage in
competitive sport.
In boys, assessment includes:
• pubertal staging, especially _____ volume
• identification of long-term systemic disorders.
In contrast to precocious puberty, delayed puberty is more common in **_males_** due to relative insensitivity of the **_testes_** to gonadotrophin secretion. Most commonly, this is **_constitutional_** delay in growth and puberty, often with a **_family_** history of delayed puberty. It is a variation of the normal **_timing_** of puberty rather than a pathological condition. It may also be induced by dieting or excessive physical training. An affected child will have delayed sexual changes compared with his/her peers, and bone age would show moderate delay. The legs will be long in comparison to the back. Eventually, the target height will be reached as growth in affected children will continue for longer than in their peers. The condition may cause psychological upset from teasing, poor self-esteem, and disadvantage in
competitive sport.
In boys, assessment includes:
• pubertal staging, especially **_testicular_** volume
• identification of long-term systemic disorders.
340
What is the most common cause of delayed puberty
Constitutional delay of growth and puberty (familial)
341
What are the two categories for the causes of delayed puberty
* Low gonadotrophin secretion (hypogonadotrophin hypogonadism)
* High gonadotrophin secretion (hypergonadotrophin hypogonadism)
342
Managament of delayed puberty
Boys
* Treatment not usually required
* If needed:
* Young = oral oxandrolone
* Catch-up growth - NO secondary characteristics
* Older = IM testosterone
* Accelerate growth + secondary characteristics
Girlks
* Delayed puberty less common so organic cause should be excluded (due to sensitivity of ovaries to pit GnT)
* Karyotyping
* TFTs
* Sex steroid hormone measurement
* If needed: oestradiol to induce puberty
343
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