1
Q
You are reviewing a 14-year-old boy who has just returned from a holiday abroad.
His mum has noticed a widespread rash on his back. He has complained of some itching but is otherwise well.
On examination, he has a large number of light brown macules and confluent patches affecting most of his back and chest. The examination is otherwise unremarkable.
What would be the most appropriate management in this case?
A
This is a typical presentation of pityriasis versicolor, a common fungal skin infection. It often becomes more noticeable after spending time in the sun - as the healthy skin becomes darker, the white/light brown patches become more prominent.
Treatment consists of topical antifungals - NICE recommends ketoconazole shampoo. If only a very small area is affected, a topical antifungal cream may also be appropriate. In this case, both back and chest are affected, so a shampoo would be much easier to use.
2
Q
You are seeing a 15-year-old boy who has developed a widespread rash over the last week. It seemed to start from a single patch on his abdomen that he first noticed 10 days ago.
On examination, he has a symmetrically distributed rash consisting of discrete pink/red lesions which are 0.5-1cm in diameter. Most are flat, but some appear slightly raised. Some have fine scales along the edges. They are not painful or itchy.
He is otherwise well and his observations are normal.
What would be the most appropriate management in this case?
A
This is a very typical description of pityriasis rosea. The exact cause remains unclear, although there are links to certain viruses. It is a self-limiting disease that tends to resolve within 12 weeks with no long term complications. Most patients will not require any treatment.
If patients complain of itch we can consider emollients, topical corticosteroids or antihistamines. Steroids are unlikely to shorten the duration of the rash itself, so should only really be used if there is pruritus present and for the shortest amount of time.
The correct answer is: No treatment indicated
3
Q
You are reviewing a 5-year-old girl whose mum has been concerned about a rash. This initially started on the trunk before spreading to the rest of the body. Mum thinks she has had a temperature for 1 or 2 days prior to this.
On examination, you note a generalised, rough-textured, pin-point rash. Her tongue has a white coating through which you can see some red papillae.
She has no significant past medical history and no known allergies.
What would be the most appropriate management in this case?
A
This a description of scarlet fever, a bacterial infection caused by Group A Streptococci. It is highly contagious and usually treated with antibiotics. NICE recommends phenoxymethylpenicillin first line and azithromycin in true penicillin allergy, although this may be different where you work depending on local microbiology policies.
Exam questions often mention a ‘sandpaper-like rash’ or a ‘strawberry tongue’ as described in this scenario.
The correct answer is: Oral phenoxymethylpenicillin
4
Q
What is this condition?
What is the treatment?
A
Hand, foot and mouth disease
Caused by the coxsackie A16 virus
Mild systemic upset: sore throat, fever
Vesicles in the mouth and on the palms and soles of the feet
You cannot take antibiotics or medicines to cure hand, foot and mouth disease. It usually gets better on its own in 7 to 10 days.
To help the symptoms:
drink fluids to prevent dehydration – avoid acidic drinks, such as fruit juice
eat soft foods like yoghurt – avoid hot and spicy foods
take paracetamol or ibuprofen to help ease a sore mouth or throat
5
Q
Methods of reducing serum potassium
(2)
A
Insulin dextrose bolus
salbutamol nebulizer
6
Q
A 5-year-old girl is brought to the GP by her mother as she has had a very loud, harsh cough for the last 2 weeks, and has been more lethargic than usual. She appears systemically well, but you witness 2 coughing fits during your consultation, in which the child appears distressed and struggles to take breaths in, making a loud harsh inspiratory noise between coughing fits. The patient has no known allergies or past medical history, but her vaccination record is unclear, having moved to the UK from abroad two years ago. Her observations reveal a fever at 37.5ºC.
What is the most appropriate management plan?
(3)
A
Whooping cough is a notifiable disease
Notify PHE
Prescribe azithromycin
7
Q
Whooping cough (pertussis) is an infectious disease caused by
(2)
A
Gram-negative bacterium Bordetella pertussis
8
Q
Features of whooping cough
(6)
A
Features, 2-3 days of coryza precede onset of:
- coughing bouts: usually worse at night and after feeding, may be ended by vomiting & associated central cyanosis
- inspiratory whoop: not always present (caused by forced inspiration against a closed glottis)
- infants may have spells of apnoea
- persistent coughing may cause subconjunctival haemorrhages or even anoxia leading to syncope & seizures
- symptoms may last 10-14 weeks* and tend to be more severe in infants
- marked lymphocytosis
9
Q
Diagnostic criteria of whooping cough
(4)
A
Diagnostic criteria
Whooping cough should be suspected if a person has an acute cough that has lasted for 14 days or more without another apparent cause, and has one or more of the following features:
- Paroxysmal cough.
- Inspiratory whoop.
- Post-tussive vomiting.
- Undiagnosed apnoeic attacks in young infants.
10
Q
Diagnosis of whooping cough
A
Diagnosis
per nasal swab culture for Bordetella pertussis - may take several days or weeks to come back
PCR and serology are now increasingly used as their availability becomes more widespread
11
Q
Management of whooping cough
(6)
A
Management
- infants under 6 months with suspect pertussis should be admitted
- in the UK pertussis is a notifiable disease
- an oral macrolide (e.g. clarithromycin, azithromycin or erythromycin) is indicated if the onset of the cough is within the previous 21 days to eradicate the organism and reduce the spread
- household contacts should be offered antibiotic prophylaxis
- antibiotic therapy has not been shown to alter the course of the illness
- school exclusion: 48 hours after commencing antibiotics (or 21 days from onset of symptoms if no antibiotics )
12
Q
Complications of whooping cough
(4)
A
Complications
subconjunctival haemorrhage
pneumonia
bronchiectasis
seizures
13
Q
Acute lymphoblastic leukaemia poor prognostic factors
(5)
A
Poor prognostic factors
- age < 2 years or > 10 years
- WBC > 20 * 109/l at diagnosis
- T or B cell surface markers
- non-Caucasian
- male sex
14
Q
Features of eczema
(5)
A
Features
- itchy, erythematous rash
- repeated scratching may exacerbate affected areas
- in infants the face and trunk are often affected
- in younger children, eczema often occurs on the extensor surfaces
- in older children, a more typical distribution is seen, with flexor surfaces affected and the creases of the face and neck
15
Q
Management of eczema
(5)
A
Management
- simple emollients
- large quantities should be prescribed (e.g. 250g / week), roughly in a ratio of with topical steroids of 10:1
- if a topical steroid is also being used the emollient should be applied first followed by waiting at least 30 minutes before applying the topical steroid
- creams soak into the skin faster than ointments
- emollients can become contaminated with bacteria - fingers should not be inserted into pots (many brands have pump dispensers)
- topical steroids
- wet wrapping
- large amounts of emollient (and sometimes topical steroids) applied under wet bandages
- in severe cases, oral ciclosporin may be used
16
Q
You are doing the six week check on a baby girl.
Describe Barlow test for developmental dysplasia of the hip.
A
Barlow manoeuvre: attempted dislocation of a newborns femoral head
17
Q
Risk factors for developmental dysplasia of the hip
(7)
A
Risk factors
- female sex: 6 times greater risk
- breech presentation
- positive family history
- firstborn children
- oligohydramnios
- birth weight > 5 kg
- congenital calcaneovalgus foot deformity
18
Q
Clinical examination for developmental dysplasia of the hip
(2)
A
Clinical examination
- Barlow test: attempts to dislocate an articulated femoral head
- Ortolani test: attempts to relocate a dislocated femoral head
other important factors include:
- symmetry of leg length
- level of knees when hips and knees are bilaterally flexed
- restricted abduction of the hip in flexion
19
Q
Management of developmental dysplasia of the hip
(3)
A
Management
- most unstable hips will spontaneously stabilise by 3-6 weeks of age
- Pavlik harness (dynamic flexion-abduction orthosis) in children younger than 4-5 months
- older children may require surgery
20
Q
Which hip is DDH more common in?
A
DDH is slightly more common in the left hip.
Around 20% of cases are bilateral.
21
Q
A mother presents with her baby to the GP for review. She asks for advice regarding her milestones and explains that her son was born was born prematurely at 32 weeks gestation.
With the premature age in mind, when should this baby begin to show a responsive social smile?
A
The corrected age of a premature baby is the age minus the number of weeks he/she was born early from 40 weeks
22
Q
A 3-year-old boy presents to the GP with a widespread, blanching, erythematous rash over his torso, arms and legs. He has had a fever and has been generally irritable and lethargic for around a week. He has also been complaining of abdominal pain for the last few days. On examination, the skin on his palms and soles is desquamated, and his tongue is red with a white coating.
What is the most likely diagnosis?
A
High fever lasting >5 days, red palms with desquamation and strawberry tongue are indicative of Kawasaki disease
23
Q
At which age can a child talk in short sentences (e.g. 3-5 words)?
A
2.5 - 3 years
24
Q
At which age does a child have a vocabulary of 2-6 words
A
12-18 months
25
At which age can a child respond to their own name?
The correct answer is: 9-12 months
26
What is the most common presenting feature of Wilms tumour?
Abdominal mass
27
An 8-week-old boy has been brought to the emergency department by his mother. She noticed this morning that he was very drowsy and not feeding very much. When she measured his temperature it was 38.4ºC. He was born at 35 weeks gestation with an uncomplicated delivery. There is no past medical history or family history and he does not require any regular medications.
On examination he is lethargic but responds to voice by opening his eyes. He is mildly hypotonic and febrile. There is a non-blanching rash on his torso that his mother says was not there this morning.
What is the most appropriate management?
Meningitis in children \< 3 months:
give IV amoxicillin in addition to cefotaxime to cover for Listeria
28
A 5-month-old girl is brought to the paediatrics emergency department by her parents. Her parents report that she has had a fever for 2 days with reduced activity and feeding. On examination, she is not smiling, her respiratory rate is 49 breaths/minute (normal range: 30-60 breaths/minute) and her heart rate is 150 beats/minute (100-160 beats/minute). She also has reduced skin turgor and looks pale. A nurse looks up the NICE traffic light system to identify her risk of serious illness.
Which of the following symptom is most concerning in this patient?
Reduced skin turgor is a red flag symptom in a child according to the NICE traffic light system
29
Feverish illness in children green signs
30
Feverish illness in children amber signs
31
Feverish illness in children red signs
32
At what age would the average child start to smile?
6 weeks
33
A 6-year-old girl presents to her general practitioner with a three day history of a dry cough. The patient has been suffering from severe coughing fits that cause her to turn blue and vomit. Prior to this she had a coryzal illness with fever, sore throat and a runny nose. She is diagnosed with whooping cough and given a course of clarithromycin.
What advice should be given with regards to returning to school?
A child with whooping cough should be excluded from school for 48 hours following commencement of antibiotics
34
An 11-year-old girl is brought by her mother for a generalised skin eruption. She began itching 2 days ago and has since developed fevers and a skin rash. On examination, there are various stages of lesions including macules, papules, crusted lesions, and vesicles which cover a majority of her body. Her mother has been giving her ibuprofen for the fever and discomfort.
Given the likely diagnosis, why would ibuprofen not be recommended in this scenario?
NSAIDs can increase the risk of necrotising fasciitis in patients with chicken pox
35
A 2-week-old infant with a small chin, posterior displacement of the tongue and cleft palate
What is the diagnosis?
Pierre-Robin syndrome
36
Supravalvular aortic stenosis is found in a 3-year-old boy with learning difficulties
What is the diagnosis?
William's syndrome
37
A 9-week-old is noted to have a small chin and rocker-bottom feet
What is the most likely diagnosis?
Edward's syndrome
38
What age do the majority of children achieve night time urinary continence?
Children under the age of 5 years who have nocturnal enuresis can be managed with reassurance and advice
**3-4 years old**
39
Management of nocturesis
| (4)
**look for possible underlying causes/triggers**
constipation
diabetes mellitus
UTI if recent onset
**general advice**
fluid intake
toileting patterns: encourage to empty bladder regularly during the day and before sleep
lifting and waking
**reward systems (e.g. Star charts)**
NICE recommend these 'should be given for agreed behaviour rather than dry nights' e.g. Using the toilet to pass urine before sleep
**enuresis alarm**
generally first-line for children
have sensor pads that sense wetness
high success rate
**desmopressin**
particularly if short-term control is needed (e.g. for sleepovers) or an enuresis alarm has been ineffective/is not acceptable to the family
40
Management depends of **symptomatic** vs **asymptomatic** hypoglycaemia
**asymptomatic**
encourage normal feeding (breast or bottle)
monitor blood glucose
**symptomatic or very low blood glucose**
admit to the neonatal unit
intravenous infusion of 10% dextrose
41
Characteristics of Turner syndrome
| (6)
webbed neck
short stature
amenorrhea
lack of pubic hair
low set ears
underweight
42
What is the genotype of Turner syndrome
single X
43
A baby born 15 hours ago in an uncomplicated birth has become jaundiced. The mother delivered the baby at home and has been breastfeeding since but was worried about the colour of the baby. Gestation at delivery was 37 weeks. What is the appropriate management option?
As the baby is only 15 hours old this means that the jaundice is pathological in nature. Therefore it is nothing to do with breastfeeding and the correct management would be to seek an immediate paediatric assessment.
44
Jaundice in the neonate from 2-14 days
| (3)
Jaundice in the neonate from 2-14 days is common (up to 40%) and usually physiological.
It is due to a combination of factors, including more red blood cells, more fragile red blood cells and less developed liver function.
It is more commonly seen in breastfed babies
45
Jaundice in the first 24 hours
| (5)
Jaundice in the first 24 hours is always pathological.
**Causes of jaundice in the first 24 hrs**
rhesus haemolytic disease
ABO haemolytic disease
hereditary spherocytosis
glucose-6-phosphodehydrogenase
46
Jaundice after 14 days (prolonged)
| (5)
If there are still signs of jaundice after 14 days (21 days if premature) a prolonged jaundice screen is performed, including:
* conjugated and unconjugated bilirubin: the most important test as a raised conjugated bilirubin could indicate biliary atresia which requires urgent surgical intervention
* direct antiglobulin test (Coombs' test)
* TFTs
* FBC and blood film
* urine for MC&S and reducing sugars
* U&Es and LFTs
47
A 4-week-old child is brought to clinic with a red rash on her scalp associated with yellow flakes.
What is the most likely diagnosis?
**Seborrhoeic dermatitis in children**
Seborrhoeic dermatitis is a relatively common skin disorder seen in children.
It typically affects the scalp (**'Cradle cap'**), nappy area, face and limb flexures.
Cradle cap is an early sign which may develop in the first few weeks of life.
It is characterised by an erythematous rash with coarse yellow scales.
48
A 6-month-old girl presents to the GP with a rash. This covers the scalp, axillae, and over the cheeks, developing over the course of a month.
On examination, the rash is erythematous, poorly demarcated, and covers around 10% of the total body area. The genital area is spared. On questioning the parents have not started using any new skincare products with the child, and deny contact with common allergens.
The child seems systemically well and the mother denies she has had any recent infections. Both the girl's mother and father have asthma.
What is the most likely diagnosis?
Atopic eczema in children typically presents before the age of 2 years
49
Features of allergic contact dermatitis
| (5)
Features
itchy, erythematous rash
repeated scratching may exacerbate affected areas
in infants the face and trunk are often affected
in younger children, eczema often occurs on the extensor surfaces
in older children, a more typical distribution is seen, with flexor surfaces affected and the creases of the face and neck
50
How should emolients be used?
| (4)
**simple emollients**
large quantities should be prescribed (e.g. 250g / week), roughly in a ratio of with topical steroids of 10:1
if a topical steroid is also being used the emollient should be applied first followed by waiting at least 30 minutes before applying the topical steroid
creams soak into the skin faster than ointments
emollients can become contaminated with bacteria - fingers should not be inserted into pots (many brands have pump dispensers)
51
Management of allergic contact dermatitis
(5)
avoid irritants
simple emollients
topical steroids
wet wrapping - large amounts of emollient (and sometimes topical steroids) applied under wet bandages
in severe cases, oral ciclosporin may be used
52
You are in a genetics clinic and explaining to a mother and father the reasoning why their son has Prader-Willi syndrome. What is the term we use to describe the mode of inheritance for Prader-Willi syndrome?
Prader-Willi is an example of imprinting.
For this disease to occur, the patient does not receive the gene from their father. The mother's gene may be normal, but that does not prevent the phenotype occurring.
The phenotype consists of learning difficulties, hypotonia, obesity and the urge to eat.
53
Characteristics of Prader-Willi syndrome
(6)
The phenotype consists of learning difficulties, hypotonia, obesity and the urge to eat.
**Features**
* hypotonia during infancy
* dysmorphic features
* short stature
* hypogonadism and infertility
* learning difficulties
* childhood obesity
* behavioural problems in adolescence
54
A 1-year-old child is brought into your surgery for a routine examination. His parents are worried that he is too small for his age.
On further questioning his parents explain he is difficult to feed, and eats a milk and soft food based diet.
He is otherwise asymptomatic.
On general examination he looks healthy but is on the 3rd centile for weight.
Cardiac examination reveals a systolic murmur in the pulmonary area and a fixed splitting to the second heart sound.
Pulses are all palpable and within normal range
What is the most likely diagnosis?
The majority of **atrial septal defects (ASDs**) are asymptomatic in children.
If these congenital hearts defects are not picked up prenatally then symptomatic patients with severe ASD may experience shortness of breath, lethargy, poor appetite and growth and increased susceptibility to respiratory infections.
On examination you would typically hear a ejection systolic murmur and fixed splitting of the second heart sound.
55
56
When is the MMR jab given?
3-4 years
57
When is the Tdap given?
What is the Tdap?
3-4 years
'4-in-1 pre-school booster' (diphtheria, tetanus, whooping cough and polio)
58
A father brings his 15-month-old son in for review. He started walking two months ago. The father has noticed that his son seems to be 'bow-legged' when he walks.
Examination of the knees and hips is unremarkable with a full range of movement. Leg length is equal. On standing the intercondylar distance is around 7cm.
What is the most appropriate action?
Bow legs in a child \< 3 is a normal variant and usually resolves by the age of 4 years
Reassure that it is a normal variant and likely to resolve by the age of 4 years
59
Flat feet (pes planus)
Typical age of presentation (1)
Signs (1)
Other details (3)
All ages
Absent medial arch on standing
Typically resolves between the ages of 4-8 years
Orthotics are not recommended
Parental reassurance appropriate
60
In toeing
Typical age of presentation (1)
Signs (1)
Possible causes (3)
1st year
Metatarsal adduction
Possible causes:
* metatarsus adductus: abnormal heel bisector line. 90% of cases resolve spontaneously, severe/persistent cases may require serial casting
* internal tibial torsion: difference the thigh and foot ankle: resolves in the vast majority
* femoral anteversion: 'W' sign resolves in around 80% by adolescence, surgical intervention in the remaining not usually advised
61
Out toeing
Typical age of presentation (1)
Signs (1)
Other (3)
All ages
metatarsal abduction
* Common in early infancy and usually resolves by the age of 2 years
* Usually due to external tibial torsion
* Intervention may be appropriate if doesn't resolve as increases risk of patellofemoral pain
62
Bow legs (genu varum)
Typical age of presentation (1)
Signs (1)
Other (1)
1st to 2nd year
Increased intercondylar distance
Typically resolves by the age of 4-5 years
63
Knock knees (genu valgum)
Typical age of presentation (1)
Signs (1)
Other (1)
3rd to 4th year
Increased intermalleolar distance
Typically resolves spontaneously
64
A 16-month old infant is brought to the GP by his mother, who is concerned that her child has not been eating as much over the past two days. She has also noticed some ulcers in his mouth. On examination, there are a few vesicles on the palms of his hands. Observations show a temperature of 37.9ºC, heart rate of 130/min, respiratory rate of 30/min and oxygen saturation of 99% in room air.
His mother reports that he was a term infant born vaginally, is progressing well on his growth charts with the health visitor and is up to date with his immunisations.
What is the most likely cause of his presentation?
Coxsackie A16
Hand, foot and mouth disease is characterised by mild systemic upset, oral ulcers followed by vesicles on the palms and soles
65
Which pathogen causes hand, foot and mouth disease?
Coxsackie A16
66
An 18-year-old primigravida is booked for induction at 38 weeks due to intrauterine growth restriction. After a short labour, a baby girl is delivered by vaginal delivery. The baby has a low birth weight. On examination, she is noted to have microcephaly, moderate hepatosplenomegaly and a petechial rash. Shortly after admission to the neonatal intensive care unit, she has a seizure.
The mother was well throughout pregnancy, has no past medical history, takes no medications and has had all of her vaccinations.
What infection has the baby likely been exposed to in-utero?
Congenital CMV manifests with hearing loss, low birth weight, petechial rash, microcephaly and seizures
67
Congenital CMV features (5)
Congenital CMV manifests with
hearing loss,
low birth weight,
petechial rash,
microcephaly
seizures
68
Congenital herpes simplex features
| (5)
include a vesicular rash
very low birth weight
microcephaly
microphthalmia
preterm birth
69
Congential parvovirus B19 features
| (3)
hydrops fetalis
miscarriage
stillbirth
70
What causes hydrops fetalis?
Hydrops fetalis is caused by severe anaemia, in this case, due to a combination of haemolytic anaemia and the virus affecting red blood cell precursors in the infant, and presents with oedema.
The oedema is due to high output heart failure.
71
Congenital rubella syndrome
| (3)
Classic triad of symptoms of congenital rubella syndrome is **sensorineural deafness**, **eye abnormalities** (e.g. retinopathy and cataracts) and **congenital heart disease**
Low birth weight, microcephaly and seizures may be present. There may also be a purpuric rash, similar to the rash in infants with congenital CMV.
72
Congenital varicella syndrome
| (3)
the defining features are **hypertrophic scars** (rather than a petechial rash), **limb defects** (such as hypoplasia) and **ocular defects** (such as cataracts and microphthalmia).
73
Congenital Toxoplasmosis features (3)
Cerebral calcification
Chorioretinitis
Hydrocephalus
74
A 2-year-old boy is brought to the Emergency Department, during the autumn period, with severe dyspnoea at rest. He has been unwell for the past week with a barking cough and inspiratory stridor which are typically worse in the late evening. On examination, intercostal and subdiaphragmatic recessions are noticeable. A chest radiograph shows tapering of the upper trachea.
What is the most likely causative organism for this boy's presentation?
Croup is more common in autumn months
The correct answer is **parainfluenza virus**. This patient is presenting with dyspnoea at rest on a background of being generally unwell. This, combined with the time of year and X-ray findings make a diagnosis of croup most likely. Croup is most likely caused by parainfluenza virus.
75
What is the most common causative organism for croup
parainfluenza virus
76
Charlotte is a 7-year-old girl brought in by her mother with a 2 day history of fever and sore throat. Today she has developed a rash on her torso. She is eating and drinking well, but has not been to school for the last 2 days and has been feeling tired.
On examination, Charlotte is alert, smiling and playful. She has a temperature of 37.8°C. Her throat appears red with petechiae on the hard and soft palate and her tongue is covered with a white coat through which red papillae are visible. There is a blanching rash present on her trunk which is red and punctate with a rough, sandpaper-like texture.
What is the most likely diagnosis?
When is Charlotte able to return to school?
A child with scarlet fever can return to school 24 hours after commencing antibiotics
77
What is the management for scarlet fever?
10 day course of phenoxymethylpenicillin (penicillin V)
patients who have a penicillin allergy should be given azithromycin
children can return to school 24 hours after commencing antibiotics
scarlet fever is a notifiable disease
78
A 12-year-old girl attends an appointment with her general practitioner. She has been limping for the last 2-days and she’s struggling to walk to and from school. The girl admits to having a cough and runny nose for the past few days, though she feels better today. She says that her right hip is painful.
On examination, she appears well in herself and is able to weight bear with an antalgic gait.
Her blood pressure is 110/70mmHg and her heart rate is 90 beats per minute. She has a respiratory rate is 16 breaths per minute and her temperature is 38.5ºC.
Given this information, what is the most appropriate action?
If a child with a limp/hip pain has a fever they should be referred for same-day assessment, even if a diagnosis of transient synovitis is suspected
79
What is transient synovitis?
| (3)
Transient synovitis is sometimes referred to as irritable hip.
It generally presents as acute hip pain following a recent viral infection.
It is the commonest cause of hip pain in children. The typical age group is 3-8 years.
80
What is the treatment of transient synovitis?
Transient synovitis is self-limiting, requiring only rest and analgesia.
81
A 4-hour-old baby boy is reviewed following delivery at 35 weeks. The pregnancy and delivery were otherwise unremarkable. The mother reports no concerns; breastfeeding has been successful so far.
On examination, the neonate looks well at rest. A blood glucose measurement is taken, with the result coming out as 2.2 mmol/L.
What is the most appropriate management at this stage?
Neonatal hypoglycaemia: if asymptomatic then encourage normal feeds and monitor glucose
82
What is the average age at which a child can be pulled up with no head lag?
3 months
83
What is the average age at which a child can stand up, unsupported?
12-15 months
84
What is the average age at which a child can crawl?
8-10 months
85
Mitochondrial inheritance characteristics:
(5)
* inheritance is only via the maternal line as the sperm contributes no cytoplasm to the zygote
* none of the children of an affected male will inherit the disease
* all of the children of an affected female will inherit the disease
* generally, encode rare neurological diseases
* poor genotype:phenotype correlation - within a tissue or cell there can be different mitochondrial populations - this is known as heteroplasmy
86
Histology of mitochondrial inheritance disorders (1)
Histology
## Footnote
muscle biopsy classically shows '**red, ragged fibres**' due to increased number of mitochondria
87
Mitochondrial inheritance disorders
* Leber's optic atrophy
* MELAS syndrome: mitochondrial encephalomyopathy lactic acidosis and stroke-like episodes
* MERRF syndrome: myoclonus epilepsy with ragged-red fibres
* Kearns-Sayre syndrome: onset in patients \< 20 years old, external ophthalmoplegia, retinitis pigmentosa. Ptosis may be seen
* sensorineural hearing loss
88
A 23-year-old female presents to the emergency department with a 2-day history of fevers, myalgia, and painful eyes.
She has recently returned from a trip to the Democratic Republic of the Congo.
She was not compliant with her anti-malarial medication during her trip due to gastrointestinal side effects.
On examination, she has a temperature of 38.8ºC, she has clustered white lesions on her buccal mucosa and conjunctivitis.
What is the most likely diagnosis?
**Measles** is characterised by prodromal symptoms, Koplik spots. maculopapular rash starting behind the ears and conjunctivitis
89
Koplik spots are associated with which condition?
Measles
90
A 9-week-old infant is brought to the Emergency department by her father.
She has been very unsettled for the past 24 hours, high pitched crying and poorly feeding.
On examination her temperature is 38.1C and her right tympanic membrane appears red and inflamed.
A diagnosis of acute otitis media without effusion is made.
What is the most appropriate management in the emergency department?
This question focuses on the management of the acutely unwell child.
**The key to this question is being able to recognise whether this is a low, medium or high risk situation.**
According to the guidelines, this child has one medium risk factor (poor feeding) and two high risk factors (high pitched cry, temperature greater than 38C in an infant under 3-month-old).
**Any child with a high-risk factor should be referred urgently to the paediatric team for assessment**
91
Risk factors for congential dysplasia of the hip
(7)
1. female sex: 6 times greater risk
2. breech presentation
3. positive family history
4. firstborn children
5. oligohydramnios
6. birth weight \> 5 kg
7. congenital calcaneovalgus foot deformity
92
A 2-year-old boy is brought to the emergency department following a seizure. After a period of observation and several investigations, he is diagnosed with febrile convulsions and his parents are reassured that he is safe to return home.
What advice is it important to give the parents?
If the seizure lasts for more than 5 minutes, call an ambulance
93
Link epilepsy to febrile convulsions
* risk factors for developing epilepsy include a family **history of epilepsy, having complex febrile seizures and a background of neurodevelopmental disorder**
* children with no risk factors have 2.5% risk of developing epilepsy
* if children have all 3 features the risk of developing epilepsy is much higher (e.g. 50%)
94
A 6-year-old boy presents to the emergency department with a rash, that has come on over the course of three days. He has been systemically well in the months up until this point. His bowel movements and urine have been normal.
On examination, the patient has **widespread petechiae over the trunk and arms**. Palpation of the abdomen reveals no findings. Observations are a respiratory rate of 16/min, heart rate of 89bpm, and temperature of 37.2 ºC.
His past medical history is unremarkable.
What is the most likely diagnosis?
ITP is a differential in any child presenting with petechiae and no fever
95
What are the features of immune thrombocytopenic purpura (ITP)
(4)
Common presentations are either a purpuric rash (petechiae), gum bleeding, haemorrhagic bullae and bruising on the arms and legs.
96
ITP investigations
| (3)
Investigation
* full blood count - should demonstrate an isolated thrombocytopenia
* blood film
* bone marrow examinations is only required if there are atypical features e.g. lymph node enlargement/splenomegaly, high/low white cells/failure to resolve/respond to treatment
97
Epidemiology of bronchiolitis (2)
most common cause of a serious lower respiratory tract infection in \< 1yr olds (90% are 1-9 months, with a peak incidence of 3-6 months). Maternal IgG provides protection to newborns against RSV
higher incidence in winter
98
What is Pertussis?
How is it diagnosed?
Pertussis, also known as whooping cough, is a highly contagious respiratory disease
nasal swab
99
A 25-year-old woman who is 20 weeks pregnant presents after routine antenatal clinic review.
She was advised to present to the GP clinic for vaccination but cannot remember which ones she was recommended.
She has had all of her childhood and school vaccines but has had no immunisations since she has been pregnant.
Which vaccine(s) should be offered to this patient?
This patient should be offered an influenza vaccine (at any point of her pregnancy) and a pertussis vaccine (typically part of diphtheria, pertussis, and tetanus vaccination) between 16-32 weeks of pregnancy.
100
A 5-year-old female is brought to her general practice by her mother who is concerned that she may have an infection. She reports that for the past 4 days her daughter has been itching her anal and vaginal area, which seems to be particularly bad at night. She has also noticed some 'white threads' in her daughter's faeces which she is very concerned about.
Based on the likely diagnosis, what is the most appropriate management?
Single dose of oral mebendazole for the entire household and hygiene advice
**Mebendazole** is first line therapy for treatment of **threadworm**
YEAR 4 PAEDS
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