Day 8 Flashcards
1
Q
What do NICE say about chickpox?
A
NICE Clinical Knowledge Summaries state the following:
Advise that the most infectious period is 1–2 days before the rash appears, but infectivity continues until all the lesions are dry and have crusted over (usually about 5 days after the onset of the rash).
2
Q
A newborn is due for her hearing screening test.
She was born at 36 weeks with no complications during the pregnancy, via a normal vaginal delivery.
Which of the following tests is most appropriate to use in a child of this age?
A
Otoacoustic emission test is used to screen newborns for hearing problems
3
Q
Which tool is used to screen newborns’ hearing?
A
Otoacoustic emission test is used to screen newborns for hearing problems
4
Q
A 14-month-old child presents to you in primary care after a convulsion.
The parents are very distressed as an uncle has epilepsy and they are concerned their daughter may have it.
The child appears alert with a temperature of 38.4C, something which the parents believe she has had for four days.
Previously, calpol has helped bring this down from a high of 40.7ºC.
You also note a pink, maculopapular rash on the chest with minimal spread to the limbs, something which mum says she noticed this morning.
The child has been feeding but has had some diarrhoea and you feel some enlarged glands on the back of her head.
There is no rash in the mouth.
Given your findings, what do you feel is the most likely underlying cause of the child’s symptoms?
A
Roseola infantum is caused by Herpes virus 6.
It is characterised by a 3-5 day high fever followed by a 2 day maculopapular rash which starts on the chest and spreads to the limbs.
This generally occurs as the fever is disappearing.
5
Q
Which virus is associated with Kaposis’ sarcoma?
A
Herpes virus 8 is associated with Kaposi’s sarcoma and is most commonly seen in AIDS patients.
6
Q
Which disease is associated with Herpes virus 8?
A
Herpes virus 8 is associated with Kaposi’s sarcoma and is most commonly seen in AIDS patients.
7
Q
Which disease does Strep A cause?
A
Group A Streptococcus tends to cause infections of the throat (aka strep throat) and skin (such as cellulitis, erysipelas and impetigo).
8
Q
Which bacterial infection is associated with nfections of the throat (aka strep throat) and skin (such as cellulitis, erysipelas and impetigo)?
A
Group A Streptococcus tends to cause infections of the throat (aka strep throat) and skin (such as cellulitis, erysipelas and impetigo).
9
Q
Key features of Roseola
A
Features
- high fever: lasting a few days, followed later by a
- maculopapular rash
- Nagayama spots: papular enanthem on the uvula and soft palate
- febrile convulsions occur in around 10-15%
- diarrhoea and cough are also commonly seen
10
Q
A 10-month-old infant is brought to accident and emergency with a 3 day history of fever and a new onset rash affecting the arms, legs and abdomen that began today. Despite this fever the child has been his usual self and does not seem to be irritated by the rash.
On closer inspection, the rash appears erythematous with small bumps that are merging together. None of the lesions have scabbed over. The rash is predominantly on the limbs and there are no signs of excoriation (skin picking).
The child is now afebrile at 36.9ºC.
Bearing in mind the likely diagnosis, what is the most likely causative organism?
A
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.
11
Q
How does Roseola differ from Varicella?
(3)
A
Roseola rash appears on arms and trunk
Varicella rash is widespread and disseminated
Additionally, Varicella is very itchy, Roseola is not.
12
Q
What is the causative agent of Roseola?
Which part of the body does it attack?
A
Caused by HHV6
Attacks nerve cells - rare complication is encephalitis
13
Q
How does Neisseria infection present?
(4)
A
Neisseria meningitides is a common cause of bacterial meningitis which presents with symptoms of meningism (photophobia, stiff neck, headache) +/- non-blanching rash seen with meningococcal septicaemia.
14
Q
A 12-year-old boy presents for review. He was diagnosed with asthma three years ago by his general practitioner.
He is currently on a salbutamol inhaler which he is using 2 puffs 3 times daily, a paediatric low-dose beclomethasone inhaler and oral montelukast.
He still has a night time cough and has to use his blue inhaler most days.
Unfortunately, there appears to have been little benefit following the addition of montelukast. His chest is clear on examination today with no wheeze and a near-normal peak flow.
What is the next step in his management?
A
Stop montelukast and add salmeterol
salmeratol is a long acting beta agonist
15
Q
How does montelukast work?
(2)
A
Blocks the action of leukotriene D4 in the lungs resulting in decreased inflammation and relaxation of smooth muscle.
16
Q
A 35-year-old pregnant woman presents with premature labour at 30 weeks gestation.
What is the most important treatment for the prevention of neonatal respiratory distress syndrome?
A
Administer dexamethasone to the mother
17
Q
What are tocolytics?
When would they be used?
Name 3 examples
A
Tocolytics are agents that can be used to suppress pre-term labour, however they are not routinely used.
Since administration of maternal steroids takes one to two days to increase surfactant levels, tocolytics can be considered in certain situations to buy time.
magnesium sulfate (MgSO4), indomethacin, and nifedipine
18
Q
A 15-year-old teenage girl presents with delayed puberty, having not commenced her menses. She is well in her self generally, with no significant medical history.
On examination, she is of slim build, with small breasts. There is no pubic hair present. Her abdomen is soft and non-tender, though there are marble-sized groin swellings bilaterally.
What is the most likely explanation for this presentation?
(4)
A
Androgen insensitivity - classic presentation is ‘primary amenorrhoea’
The key symptom here is the groin swellings, which combined with ‘primary amenorrhoea’ and no pubic hair points towards a diagnosis of androgen insensitivity (previously testicular feminisation syndrome).
The groin swellings here are undescended testes. This is a condition in which the patient is genetically male (46XY), but phenotypically female.
Feminisation is a result of increased oestradiol levels, which lead to breast development.
19
Q
What is the genotype of Klinefelter’s syndrome?
What are the features of Klinefelter’s? (6)
How is it diagnosed?
A
Klinefelter’s syndrome is associated with karyotype 47, XXY
Features
- often taller than average
- lack of secondary sexual characteristics
- small, firm testes
- infertile
- gynaecomastia - increased incidence of breast cancer
- elevated gonadotrophin levels
Diagnosis is by chromosomal analysis
20
Q
What is Kallman’s syndrome?
What is its inheritance?
How does is it thought to develop?
A
Kallman’s syndrome is a recognised cause of delayed puberty secondary to hypogonadotrophic hypogonadism.
It is usually inherited as an X-linked recessive trait.
Kallman’s syndrome is thought to be caused by failure of GnRH-secreting neurons to migrate to the hypothalamus.
21
Q
Features of Kallman’s syndrome
A
Features
- ‘delayed puberty’
- hypogonadism, cryptorchidism
- anosmia
- sex hormone levels are low
- LH, FSH levels are inappropriately low/normal
- patients are typically of normal or above average height
Cleft lip/palate and visual/hearing defects are also seen in some patients
22
Q
What is Androgen insensitivity syndrome?
What is the genotype?
A
Androgen insensitivity syndrome is an X-linked recessive condition due to end-organ resistance to testosterone causing genotypically male children (46XY) to have a female phenotype.
23
Q
Management of androgen insensitivity syndrome
(3)
A
counselling - raise child as female
bilateral orchidectomy (increased risk of testicular cancer due to undescended testes)
oestrogen therapy
24
Q
A baby is 12 hours old and was born at term. The mother had gestational diabetes during her pregnancy.
The mother has chosen to formula feed exclusively.
The baby is currently comfortable on the postnatal ward, and her latest capillary blood glucose reading is 2.3mmol/L.
The examination is normal.
What would be the next step in management?
A
Neonatal hypoglycaemia: if asymptomatic then encourage normal feeds and monitor glucose
25
An 18-month old child presents to the GP with his worried parents. They have just noticed that his foreskin swells when he urinates and they cannot retract the foreskin. Which of the following is the best immediate management of this condition?
Reassure parents and review in 6-months
In children less than 2 years of age, phimosis (a non-retractable foreskin) is normal and will most likely resolve with time
26
A 15-year-old girl comes into the GP practice requesting contraception. You counsel her and together decide the implant would be the best method for her.
You feel that she has the capacity to make this decision and consent to the insertion.
However, in previous consultations, you have found her not to be capacitous for certain decisions and have involved her parents.
Which of the following is required, according to the GMC, in order to continue with the insertion of the implant?
Just the patient's consent
Capacity is time and decision dependent. If in the past the patient has not had capacity to make a decision, but today for this decision you feel she has, the only consent you need is from her.
27
A male infant is born prematurely at 34 weeks gestation by emergency cesarean section.
He initially appears to be stable. However, over the ensuing 24 hours he develops worsening neurological function.
Which processes is most likely to have occurred?
(4)
**Intraventricular haemorrhage** is a haemorrhage that occurs into the ventricular system of the brain.
In premature neonates it may occur spontaneously.
The blood may clot and occlude CSF flow, hydrocephalus may result.
In neonatal practice the vast majority of IVH occur in the first 72 hours after birth, the aetiology is not well understood and it is suggested to occur as a result of birth trauma combined with cellular hypoxia, together the with the delicate neonatal CNS.
28
How is neonatal IVH managed?
| (2)
Is largely supportive, therapies such as intraventricular thrombolysis and prophylactic CSF drainage have been trialled and not demonstrated to show benefit.
Hydrocephalus and rising ICP is an indication for shunting.
29
You are working on the paediatric ward and are called to see a child who the nurses have noticed is persistently 'floppy'.
You assess the child and find no acute cause for concern and wonder whether there might be an underlying issue.
Which of the following is most likely to be the underlying cause of neonatal hypotonia in this case?
Neonatal hypotonia: associated with Prader-Willi
30
Causes of neonatal hypotonia (4)
neonatal sepsis
Werdnig-Hoffman disease (spinal muscular atrophy type 1)
hypothyroidism
Prader-Willi
31
A couple attend the GP practice seeking advice as they are currently pregnant with their first son.
The father suffers from haemophilia A and is worried about the risk of passing this disease onto his son.
The mother is not a carrier and has no family history of any disorders.
What is the percentage chance of the baby inheriting haemophilia A?
Haemophilia A is an x-link recessive condition
There is no male-to-male transmission in X-linked recessive conditions
32
Features of Perthe's disease
| (4)
## Footnote
Perthes' disease is a degenerative condition affecting the hip joints of children, typically between the ages of 4-8 years
hip pain: develops progressively over a few weeks
stiffness and reduced range of hip movement
x-ray: early changes include widening of joint space, later changes include decreased femoral head size/flattening
premature fusion of the growth plates
33
Management of Perthe's disease
| (4)
## Footnote
To keep the femoral head within the acetabulum: cast, braces
If less than 6 years: observation
Older: surgical management with moderate results
Operate on severe deformities
34
A six-week-old infant is brought into the emergency department with a history of poor feeding for 4 days and increasing difficulty in breathing.
There is no significant medical history.
On examination the infant has a **blue tinge** to the lips and **a ejection systolic murmur** on **auscultation of the precordium**.
What is the most likely underlying diagnosis?
Cyanotic congenital heart disease presenting at 1-2 months of age is TOF
Cyanotic congenital heart disease presenting within the first days of life is TGA.
35
A 24-year-old nulliparous woman presents in spontaneous labour and you are involved in the vaginal delivery of a baby boy weighing 3.6 kg.
An Apgar score is used to asses the health of the newborn.
Which of the following contains the correct components of the Apgar score?
The components of the Apgar score include
pulse,
respiratory effort,
colour,
muscle tone
reflex irritability.
36
You are shadowing a doctor working on the labour ward who is asked to review a 2-hour-old delivered at 41+2 weeks by ventouse as the mother is anxious about the appearance of her baby's head.
On examination, you see a soft, puffy occipital swelling with some light bruising from the ventouse cup, the swelling appears to cross the suture lines.
The baby seems well in herself otherwise and the neonatal hearing screen which occurred earlier that morning was unremarkable.
What is the likely cause for this appearance?
**Caput succedaneum** is a puffy swelling that usually occurs over the presenting part and crosses suture lines
37
Parents bring their 4 week old formula fed infant to the short stay paediatric ward.
They are concerned because he has persistent non-bilious vomiting and is becoming increasingly lethargic.
Despite this, his appetite is substantial.
On examination, he appears pale and you can see visible peristalsis in the left upper quadrant.
What is the most likely diagnosis?
This presentation should raise the suspicion of **pyloric stenosis.**
Visible peristalsis can be visualised as the stomach tries to push its contents past the obstruction.
The vomiting is non-bilious as the level of obstruction is proximal to the second part of the duodenum where bile enters the gastrointestinal tract.
This is contrast to malrotation and duodenal atresia.
38
You have just assisted with the normal vaginal delivery of a baby girl, during the delivery there was a large amount of meconium.
On observation of the baby just after the birth the presence of which of the signs would prompt you to call the neonatal team?
(7)
As per the NICE guidelines if any of the following are observed after any degree of meconium, then baby must be assessed by the neonatal team;
* respiratory rate above 60 per minute
* the presence of grunting
* heart rate below 100 or above 160 beats/minute
* capillary refill time above 3 seconds
* temperature of 38°C or above, or 37.5°C on 2 occasions 30 minutes apart
* oxygen saturation below 95%
* presence of central cyanosis
39
A concerned mother brings her 4-year-old son to see the GP, worried about his walking and balance. The child learned to walk around 2 years old, much the same as his older sister.
However, over the last few months, his mum has noticed that he has become reluctant to walk and often trips or falls when he does.
On examination, the child is slim built but has disproportionately large calves. When asked to walk across the room he does so on his tiptoes. Gowers test is positive.
What investigation is considered most appropriate to confirm the likely diagnosis?
**Duchenne muscular dystrophy**
**genetic testing** rather than a muscle biopsy is now used to make a diagnosis
40
What is Gower's test?
To get up from a sitting or supine position, the child must first become prone on the elbows and knees. Next, the knees and elbows are extended to raise the body.
41
What is the inheritance pattern of DMD
Duchenne muscular dystrophy is an X-linked recessive inherited disorder in the dystrophin genes required for normal muscular function.
42
Investigations in DMD (2)
## Footnote
raised creatinine kinase
genetic testing has now replaced muscle biopsy as the way to obtain a definitive diagnosis
43
Features of DMD
## Footnote
progressive proximal muscle weakness from 5 years
calf pseudohypertrophy
Gower's sign: child uses arms to stand up from a squatted position
30% of patients have intellectual impairment
associated with dilated cardiomyopathy
44
Prognosis of DMD
## Footnote
most children cannot walk by the age of 12 years
patients typically survive to around the age of 25-30 years
45
A 4-year-old boy, who has been wetting the bed at night attends surgery today with his grandmother, as his mother is at work.
His grandmother is worried because it was also an issue for his older brother, who is 9-years-old and he is prescribed desmopressin.
The boy in front of you is otherwise well and his bowels open regularly.
An examination is unremarkable and he has a soft non-tender abdomen.
What should you advise?
Children under the age of 5 years who have nocturnal enuresis can be managed with reassurance and advice
Reassurance and general advice
46
A 4-year-old boy was discharged from the hospital six weeks ago after an episode of viral gastroenteritis.
He now has 4-5 loose stools each day which has been present for the past four weeks.
What is the most likely diagnosis?
(2)
**Transient lactose intolerance is a common complication of viral gastroenteritis.**
Removal of lactose from the diet for a few months followed by a gradual reintroduction usually resolves the problem.
47
What is the main cause of gastroenteritis?
What is the main risk of gastroenteritis?
Most common cause is rotavirus - typically accompanied by fever and vomiting for the first 2 days. The diarrhoea may last up to a week.
main risk is severe dehydration
48
Chickenpox is a risk factor for invasive group A streptococcal soft tissue infections including necrotizing fasciitis
49
**What is Reye's syndrome?**
When does it present? (1)
What are the acute symptoms? (4)
What are the chronic symptoms? (2)
What is the mortality rate? (1)
The peak incidence is 2 years of age
**Acute**
* there may be a history of preceding viral illness
* encephalopathy: confusion, seizures, cerebral oedema, coma
**Chronic**
* fatty infiltration of the liver, kidneys and pancreas, hypoglycaemia
**_mortality rate of 15-25%._**
50
What is Henoch-Schonlein purpura (HSP)?
When does it occur?
Which disease is it associated with?
Henoch-Schonlein purpura (HSP) is an IgA mediated small vessel vasculitis.
There is a degree of overlap with IgA nephropathy (Berger's disease).\
HSP is usually seen in children following an infection.
51
Features of Henoch-Schonlein Purpura
| (4)
**Features**
* palpable purpuric rash (with localized oedema) over buttocks and extensor surfaces of arms and legs
* abdominal pain
* polyarthritis
* features of IgA nephropathy may occur e.g. haematuria, renal failure
52
Erysipelas features (2)
Erysipelas is localised skin infection caused by Streptococcus pyogenes. In simple terms, it is a more superficial, limited version of cellulitis.
The treatment of choice is flucloxacillin.
53
A 2-month-old girl is brought in by her mother. She was breastfed for the first two weeks of life before being switched to formula.
For the past six weeks she has experienced a number of problems including regurgitation, vomiting, diarrhoea and eczema.
Despite these problems she has kept to the 50th centile for weight.
Clinical examination is unremarkable other than some dry skin on her torso. What is the most likely diagnosis?
The emergence of symptoms following the introduction of formula is very suggestive of **cow's milk protein intolerance.**
54
Management of cow's milk protein intolerence
(6)
**Management if formula-fed**
* extensive hydrolysed formula (eHF) milk is the first-line replacement formula for infants with mild-moderate symptoms
* amino acid-based formula (AAF) in infants with severe CMPA or if no response to eHF
* around 10% of infants are also intolerant to soya milk
**Management if breastfed**
* continue breastfeeding
* eliminate cow's milk protein from maternal diet. Consider prescribing calcium supplements for breastfeeding mothers whose babies have, or are suspected to have, CMPI, to prevent deficiency whilst they exclude dairy from their diet
* use eHF milk when breastfeeding stops, until 12 months of age and at least for 6 months
55
When do children grow out of CMPT?
| (2)
**CMPI usually resolves in most children**
* in children with IgE mediated intolerance around 55% will be milk tolerant by the age of 5 years
* in children with non-IgE mediated intolerance most children will be milk tolerant by the age of 3 years
56
You are asked to review a 4-hour-old neonate who has been intermittently grunting and occasionally nasal flaring.
They were born this morning via elective Caesarean section at 41 weeks gestation.
Their respiratory rate and oxygen saturations are both within normal limits.
Their mother is concerned as her older son who was also born via Caesarean section had a similar presentation.
What advice would you give her?
(2)
Observation and supportive care +/- oxygen are the mainstays of treatment in uncomplicated transient tachypnoea of the newborn
Transient tachypnoea of the newborn (TTN) is very common in babies born via Caesarean sections. In most cases, if the baby is well, no further investigations or treatment is required. TTN will frequently resolve on its own and parents should be reassured.
57
What is the typical age range for febrile convulsions?
Febrile convulsion typically occur in children between the age of 6 months to 5 years
58
Features of febrile conviulsions
| (3)
Clinical features
usually occur early in a viral infection as the temperature rises rapidly
seizures are usually brief, lasting less than 5 minutes
are most commonly tonic-clonic
59
**Link of febrile convulsions to epilepsy**
| (3)
**Link to epilepsy**
risk factors for developing epilepsy include:
* a family history of epilepsy,
* having complex febrile seizures
* 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%)
60
A 5-day-old baby has been having noisy breathing since birth.
An astute junior doctor recognises that the noise is on inspiration.
What is the most common cause of stridor in a neonate?
**Laryngomalacia** is the commonest cause of stridor in children
Congenital abnormality of the larynx.
Infants typical present at 4 weeks of age with stridor
61
A 10-month-old boy is brought to surgery.
Around 4 days ago he developed a fever after being irritable the previous day.
The fever settled after around 3 days but following this he developed a rash, which prompted his mother to bring him to surgery.
He is taking around 75% of his normal feeds, is producing wet nappies and has had two episodes of loose stools.
On examination he is alert, temperature is 37.0ºC, chest is clear, ears/throat unremarkable.
There are a number of blanching, rose pink macules present on his trunk.
What is the most likely diagnosis?
Roseola infantum - fever followed later by rash
**Features**
* high fever: lasting a few days, followed later by a
* maculopapular rash
* Nagayama spots: papular enanthem on the uvula and soft palate
* febrile convulsions occur in around 10-15%
* diarrhoea and cough are also commonly seen
62
A 3-year-old child is brought to the emergency department with severe breathing difficulties.
They were diagnosed with croup and given oral dexamethasone by the GP earlier in the day. O
n examination, their oxygen saturations are 89% on room air and there is significant intercostal recession.
Which of the following emergency treatments should be given to this child?
**Emergency treatment**
* high-flow oxygen
* nebulised adrenaline
63
A two-week-old child is brought to the emergency department by his parents. He was slow to establish on feeds but was discharged home three days following delivery. During the past 7 hours he has been vomiting and the vomit is largely bile stained. On examination, he has a soft, distended abdomen.
What is the most likely diagnosis?
Intestinal malrotation
The combination of a distended abdomen and bilious vomiting is highly suggestive of intestinal malrotation and volvulus. An urgent upper GI contrast study and ultrasound is required.
Not as likely to be duodenal atresia because it occurs after 3 days
64
A 4-week old baby is developing well and develops profuse and projectile vomiting after feeds. He has been losing weight and the vomit is described as being non-bilious.
(4)
Hypertrophy of the pyloric sphincter
A history of projective vomiting and weight loss is a common story suggestive of pyloric stenosis.
The vomit is often not bile stained.
Diagnosis is further suggested by hypochloraemic metabolic alkalosis and a palpable tumour on test feeding.
65
A 1-day old child is born by emergency cesarean section for foetal distress. On examination, he has decreased air entry on the left side of his chest and a displaced apex beat. Abdominal examination demonstrates a scaphoid abdomen but is otherwise unremarkable.
Congenital diaphragmatic hernia
Displaced apex beat and decreased air entry are suggestive of diaphragmatic hernia. The abdomen may well be scaphoid in some cases. The underlying lung may be hypoplastic and this correlates directly with prognosis.
66
A 2-year-old boy is brought into the emergency department following a 1 week history of fever, lethargy and irritability. The symptoms came on suddenly over a matter of hours and have not dissipated despite the GP's recommendation of anti-pyretics. He has had a reduced appetite and diarrhoea during this time. Earlier this morning a widespread red rash appeared on his body..
On basic observations the child appears toxic looking, is tachycardic and has a temperature of 39.2ºC. Examination reveals a widespread maculopapular rash, left-sided cervical lymph node enlargement and a swollen, erythematous tongue.
What is the likely diagnosis?
What is the most important investigation in this child?
**Coronary** **artery** **aneurysms** are a complication of **Kawasaki** **disease** and this should be screened for with an echocardiogram
67
What is Kawasaki's disease?
| (2)
Kawasaki disease is a type of vasculitis which is predominately seen in children.
Whilst Kawasaki disease is uncommon it is important to recognise as it may cause potentially serious complications, including coronary artery aneurysms.
68
What are the features of Kawasaki's disease?
(6)
* high-grade fever which lasts for \> 5 days. Fever is characteristically resistant to antipyretics
* conjunctival injection
* bright red, cracked lips
* strawberry tongue
* cervical lymphadenopathy
* red palms of the hands and the soles of the feet which later peel
69
What is the management for Kawasaki's disease?
(3)
* high-dose aspirin *(Kawasaki disease is one of the few indications for the use of aspirin in children. Due to the risk of Reye's syndrome aspirin is normally contraindicated in children)*
* intravenous immunoglobulin
* echocardiogram (rather than angiography) is used as the initial screening test for coronary artery aneurysms
70
An 8 week old male infant is brought in by his mother to see the GP.
She states that his right testis is undescended since birth.
She was advised by a doctor when the child was born that she should take him to a doctor at 6 to 8 weeks of age if the problem persisted which is why she has brought him to the GP.
On examination the GP confirms that there is a unilateral undescended testis on the right; the penis appears normal.
What would be the next step in management?
(3)
Unilateral undescended testicle - review at 3 months - if persistent refer
If the testis is undescended by 3 months of age, the child should be referred to a paediatric surgeon and seen before 6 months of age.
This is in line with NICE guidelines on undescended testes.
71
What is the management if both testes are undescended?
(2)
Orchidopexy: Surgical practices vary although the majority of procedures are performed at around 1 year of age
Should be reviewed by a senior paediatrician within 24hours as the child may need urgent endocrine or genetic investigation
72
You are asked to review a 1-hour-old neonate on the delivery suite.
They were born via elective Caesarean section.
Maternal antenatal history is significant for gestational diabetes.
A heel prick test shows the baby's blood glucose is 2.2 mmol/L.
What is the next step in management?
Transient hypoglycaemia in the first hours after birth is common
Observe and encourage early feeding
73
A 60 year-old man with haemophilia A has just become a grandfather. He wants to know what the chances are of his daughter's son having haemophilia. His daughter's partner is well with no past medical history.
What is the probability that his daughter's son has haemophilia A?
Haemophilia A is an X-linked recessive disease. This means that all female offspring of affected men will be carriers. There is then a 50% chance of these females passing the gene on. If the female's children are male, they will therefore have a 50% chance of having the condition.
74
A four-year-old boy has presented with his concerned mother with an abnormal gait and weakness in his lower limbs.
A history, examination and subsequent investigations are completed and he is diagnosed with Duchenne muscular dystrophy.
What is the most common cardiac pathology associated with this condition?
The most common heart lesion associated with Duchenne muscular dystrophy is dilated cardiomyopathy
75
**What rash is being described?**
The most common cause, due to irritant effect of urinary ammonia and faeces
Creases are characteristically spared
irritant dermatitis
76
Typically an erythematous rash which involves the flexures and has characteristic satellite lesions
Candida dermatitis
77
**Which rash is being described?**
Erythematous rash with flakes. May be coexistent scalp rash
Seborrhoeic dermatitis
78
**Which rash is being described?**
A less common cause characterised by an erythematous scaly rash also present elsewhere on the skin
Psoriasis
79
A 4-year-old girl presents to her GP following a productive cough and wheeze.
On examination a systolic murmur is heard in the second intercostal space lateral to the left sternal edge.
It has an intensity of 1/6 and is not audible when she lies flat.
Which of the following is the most likely diagnosis?
The correct answer is Innocent murmur.
They are Soft, Systolic, Short, Symptomless, Standing/Sitting (vary with position).
Coarctation of the aorta is heard as an ejection systolic murmur which can be heard through to the back.
Additionally, the murmur does not change on position.
On examination hypertension of the upper extremities is present and a difference between blood pressure in the arms and legs is detected.
Ventricular septal defect present as a pansystolic murmur. Atrial septal defect is an ejection systolic murmur but is often associated with fixed splitting of the 2nd heart sound.
Pulmonary stenosis is an ejection systolic murmur heard at the left upper parasternal edge
80
A 17-hour-old baby on the maternity ward has become cyanotic.
This cyanosis is particularly evident when they cry, and a systolic murmur can be heard on auscultation.
You suspect the child has transposition of the great arteries.
What is the initial management for this child?
Maintenance of the ductus arteriosus with prostaglandins is the initial management for duct dependent congenital heart disease
81
A 4-year-old boy is found collapsed and not breathing.
They have no visible airway obstruction.
A paramedic performs 5 rescue breaths with a bag-valve-mask attached to 100% oxygen.
They have a pulse of 30 beats per minute and they are peripherally cold.
They are making no respiratory effort despite the rescue breaths.
What is the most correct course of action?
In paediatric basic life support, the ratio of compressions to breaths is 15:2
82
A newborn baby is noted to have low-set ears, rocker bottom feet and overlapping of her fingers. What is the most likely diagnosis?
A baby is born with micrognathia, low-set ears, rocker bottom feet and overlapping of fingers - Edward's syndrome
83
A 2-week-old infant is brought to the emergency department with abdominal distension and tenderness. The parents describe that there has been a small amount of blood in her nappy and some bilious vomit. Over the last couple of days the parents have noticed decreased movement and that she is struggling to feed.
Relevant history is that she was born at 28 weeks following premature rupture of membranes.
Which of the following investigations is most likely to give the diagnosis?
(3)
The diagnostic investigation for necrotising enterocolitis is an abdominal x-ray
This infant has necrotising enterocolitis (NEC) and the abdominal x-ray would have the pathognomonic pneumatosis intestinalis (gas in gut wall).
Management is to stop oral feeds, barrier nurse and give antibiotics (cefotaxime and vancomycin), in severe cases a laparotomy may be needed but this is indicative of a poor prognosis and would not be done to diagnose NEC.
84
When is the MMR vaccine given routinely?
The MMR vaccine is given routinely at 12-13 months of age and then again at 3-4 years in the pre-school booster.
85
A mother is concerned about a swelling she has noted on her newborn's head. The girl was born four hours ago, using forceps delivery due to a prolonged second stage of labour. On examination, there is a swelling in the parietal region which does not cross the suture lines. The consultant tells her that it may take several months to resolve. Which type of head injury is this likely to be?
Cephalohaematoma: Several hours after birth, doesn't cross suture lines, can take months to resolve
86
A 15-year-old boy presents to the GP with a 5-week history of gradual onset left groin pain and a limp.
The right leg is not affected and he is otherwise well, with no past medical or family history.
On examination, there is a loss of internal rotation of the left leg.
There is no swelling or warmth felt over the joints.
His notes document normal vital signs, height in the 50th percentile and weight in the 95th percentile.
Which of the following is the most likely diagnosis?
(4)
Obesity is a risk factor for slipped capital femoral epiphysis
The correct option is slipped capital femoral epiphysis (classically seen in obese boys aged 10-15).
It results from a weakness in the proximal femoral growth plate, which can be due to obesity, endocrine disorders or rapid growth.
On examination, a loss of internal rotation of the affected leg is usually seen.
87
Slipped capital femoral epiphysis
Basics (4)
Features (3)
**Basics**
* typically age group is 10-15 years
* More common in obese children and boys
* Displacement of the femoral head epiphysis postero-inferiorly
* May present acutely following trauma or more commonly with chronic, persistent symptoms
**Features**
* hip, groin, medial thigh or knee pain
* loss of internal rotation of the leg in flexion
* bilateral slip in 20% of cases
88
A 3-year-old boy is brought into the emergency department with cough and noisy breathing following a 3-day history of coryzal symptoms. On examination, he is afebrile but has harsh vibrating noise on inspiration, intercostal recession and a cough. He is systemically well.
What is the most likely causative organism?
Parainfluenza virus accounts for the majority of cases of croup
89
What are the three most common respiratory illnesses and what are their causative agents?
**Croup** caused by **Parainfluenzae** **virus**
**Acute** **epiglottitis** caused by **H. Influenzae**
**Bronchiolitis** caused by **RSV**
90
A 17-hour-old baby on the maternity ward has become cyanotic. This cyanosis is particularly evident when they cry, and a systolic murmur can be heard on auscultation. You suspect the child has transposition of the great arteries.
What is the initial management for this child?
Maintenance of the ductus arteriosus with prostaglandins is the initial management for duct dependent congenital heart disease
91
A 4-year-old boy is found collapsed and not breathing.
They have no visible airway obstruction.
A paramedic performs 5 rescue breaths with a bag-valve-mask attached to 100% oxygen.
They have a pulse of 30 beats per minute and they are peripherally cold.
They are making no respiratory effort despite the rescue breaths.
What is the most correct course of action?
In paediatric basic life support, the ratio of compressions to breaths is 15:2
92
A newborn baby is noted to have low-set ears, rocker bottom feet and overlapping of her fingers. What is the most likely diagnosis?
A baby is born with micrognathia, low-set ears, rocker bottom feet and overlapping of fingers - Edward's syndrome
93
A 2-week-old infant is brought to the emergency department with abdominal distension and tenderness. The parents describe that there has been a small amount of blood in her nappy and some bilious vomit. Over the last couple of days the parents have noticed decreased movement and that she is struggling to feed.
Relevant history is that she was born at 28 weeks following premature rupture of membranes.
Which of the following investigations is most likely to give the diagnosis?
The diagnostic investigation for necrotising enterocolitis is an abdominal x-ray
This infant has necrotising enterocolitis (NEC) and the abdominal x-ray would have the pathognomonic pneumatosis intestinalis (gas in gut wall). Management is to stop oral feeds, barrier nurse and give antibiotics (cefotaxime and vancomycin), in severe cases a laparotomy may be needed but this is indicative of a poor prognosis and would not be done to diagnose NEC.
94
A 3-year-old boy is brought into the emergency department with cough and noisy breathing following a 3-day history of coryzal symptoms. On examination, he is afebrile but has harsh vibrating noise on inspiration, intercostal recession and a cough. He is systemically well.
What is the most likely causative organism?
Parainfluenza virus accounts for the majority of cases of croup
95
You are working in a busy emergency department. A worried mother brings her 3-year-old boy to see you. He has been crying excessively for the last 12 hours and has had bilious vomiting on multiple occasions. The boy passed one stool around 2 hours ago which contained small amounts of blood.
With the patients likely diagnosis what initial investigation would you do?
Ultrasound is the investigation of choice for intussusception
96
What is the age range for intususseption?
It's the most common cause of bowel obstruction in children between the ages of 6 months and 3 years.
97
A 28-year-old pregnant female attends a routine clinic appointment. She is concerned because one of her fetal ultrasound reports shows evidence of a large patent ductus arteriosus in the fetus. She has read on the internet that indomethacin can treat this condition, and wants to know more about the drug.
What will you tell the mother about the administration of this drug?
Patent ductus arteriosus: indomethacin is given to the neonate in the postnatal period, not to the mother in the antenatal period
98
A father brings his 16-day old baby presents to the emergency department. The baby is visibly jaundiced and distressed, and the father explains the baby has not been feeding well since yesterday. Examination reveals hepatomegaly and splenomegaly. A newborn jaundice screen indicates no infection, normal thyroid function tests, raised conjugated bilirubin, liver transaminases and bile acids. The urine is negative for reducing substances.
Given the most likely diagnosis, what is the first-line management option?
Surgery is the treatment of choice for biliary atresia
99
A 16-month-old girl is brought to the children's emergency department by her parents who report loss of consciousness and seizure activity. Paramedics state that she was not seizing when they arrived. She has a temperature of 38.6ºC and has been unwell recently. Her other observations are normal. She has no known past medical history.
After investigations the child is diagnosed with a febrile convulsion.
What advice should you give her parents regarding this new diagnosis?
Parents should be advised to call an ambulance if a febrile convulsion lasts \>5 minutes
The vast majority of febrile convulsions are short and do not cause any long-term damage. Parents should be advised to call an ambulance for any seizures lasting more than 5 minutes. This allows timely intervention if the child was to have a prolonged seizure (\>10 minutes). Longer seizures mean there is a greater risk of harm to the child and also a greater risk of developing epilepsy later in life.
100
A 3-year-old male presents to the emergency department with his mother who is anxious about 'his cold becoming worse'.
She informs you that the cough he has had for 4 days has become louder and more frequent and he hasn't eaten anything for the past 24 hours.
On examination he is febrile (38.4ºC) and mildly agitated with overt coryzal symptoms.
There is mild retraction of the skin around the sternal wall and a gentle, soft inspiratory high pitched noise heard between fits of coughing.
What is the diagnosis?
What is the most appropriate management in this case?
Croup - A single dose of oral dexamethasone (0.15 mg/kg) is to be taken immediately regardless of severity
This question requires to differentiate croup from other differentials (based on the coryzal symptoms, cough and stridor) and then assess the severity of the condition. This would be classified in this case as moderate croup, which under NICE guidelines should be treated with oral dexamethasone as first line.
101
A 4-year-old boy presents to the GP with the sudden onset of limp. He is otherwise well. On examination, he has an antalgic gait.
An MRI scan shows reduced perfusion to the right hip. The doctor suspects Perthes' disease.
What is the most appropriate management?
Perthes' disease presenting under the age of 6 years has a good prognosis requiring only observation
102
A 2-month-old baby boy has been brought into the GP by his mother. They visited two weeks ago because the baby was experiencing vomiting and regurgitation after feeds.
They were given alginate suspension at the time but this has not helped. Today, the baby is still experiencing troublesome symptoms and is now refusing feeds.
What should you prescribe next?
An infant with GORD who has troublesome symptoms despite a 1–2 week trial of alginate therapy, should be prescribed a 4-week trial of a proton pump inhibitor
A 4-week trial of a proton pump inhibitor is the correct answer. NICE suggests trying this if a previous 1-2 week trial of alginate suspension (eg Gaviscon) has failed to settle an infant’s symptoms of gastro-oesophageal reflux disease (GORD).
103
A 2-year-old boy is presented with multiple petechiae and excessive bruising on his shins.
He was previously fit and well apart from a an illness two weeks ago which was diagnosed by the general practitioner as a viral upper respiratory tract infection and for which he was only given paracetamol.
His symptoms today were only noticed by his mother half an hour ago. He is apyrexial. Investigations including blood smears reveal thrombocytopaenia with all other parameters reported as normal.
Which of the following is the most likely diagnosis?
(3)
Idiopathic thrombocytopaenic purpura (ITP)
ITP is often preceded by a viral illness and the presence of an isolated thrombocytopaenia is typical of ITP. In TTP, schistocytes are often seen on blood smears.
Although essential thrombocythaemia may cause bleeding, the typical patient is an adult above the age of 40.
104
A mother arrives at the paediatric emergency department with her 4-year-old boy. He has a fever and she has noticed raised nodes on his neck.
She has given him paracetamol and ibuprofen but his temperature is not reducing.
His lips have become extremely dry and cracked and his tongue red and slightly swollen.
She has noticed that his feet are also red and puffy now, and he is developing a widespread fine rash.
What is the most likely diagnosis?
High fever lasting \>5 days, red palms with desquamation and strawberry tongue are indicative of Kawasaki disease
This presentation is typical of Kawasaki's disease. It presents with a high fever that is not very responsive to paracetamol or ibuprofen. The patient then develops a 'strawberry tongue,' dry cracked lips and inflamed mucosa. Erythema and oedema are followed by desquamation of the extremities. Hand, foot and mouth disease starts with general malaise and pyrexia, however skin lesions in the form of vesicles appear in the mouth. 75% develop an eruption on the hands and feet with tender papule and vesicles. Measles presents with a fever and coryzal symptoms. Koplick's spots can develop on the oral mucosa however these are bright red with a bluish white speck at the centre. A maculo-papular rash arrives 3-5 days later. Parvovirus B19 is also known as 'slapped cheek syndrome. Scarlet fever presents with an inflamed tongue also, however would not explain the red and puffy feet which later desquamate.
105
A mother brings her child for a routine general practice (GP) appointment.
During the consultation, the mother mentions that the child recently joined his school's trampolining team and has been performing well in the sport.
You notice that the child has a short stature, upslanting palpebral fissures, a flat occiput and a single palmar crease.
Which of the following should be the most immediate concern of the GP for this child?
Screen for **atlanto-axial i**nstability in people with Down syndrome who participate in sports that may carry an increased risk of neck dislocation (e.g. trampolining, gymnastics, boxing, diving, rugby and horse riding)
The child has clinical features of Down syndrome. Although hypothyroidism, dementia, leukaemia, and seizures are complications of Down syndrome, nothing in this scenario points towards them being of immediate concern. Atlantoaxial instability is a complication of Down Syndrome that increases the risk of sudden neck dislocation. It is strongly advised people with Down syndrome who participate in sports that may carry an increased risk of neck dislocation (e.g. trampolining, gymnastics, boxing, diving, rugby and horse riding) are screened for atlantoaxial instability.
106
A 4 month old baby girl is admitted to the Emergency Department after her mother noted that she stopped breathing. The baby was fit and well earlier. Unfortunately, advanced life support failed to resuscitate the baby. Her temperature on admission was 36.8ºC. The child was previously fit and healthy and up-to-date with vaccinations. On post-mortem, retinal haemorrhages were noted in the baby's eyes bilaterally. Which of the following would explain the likely primary mechanism that have lead to the baby's death?
This syndrome encompasses the triad of **retinal haemorrhages, subdural haematoma, and encephalopathy**. This is caused by the intentional shaking of a child (0-5 years old). The diagnosis of shaken baby syndrome has often made the headlines due to the controversy amongst physicians as to whether the mechanism of injury is definitely an intentional shaking of a child. This has often resulted in difficulty for the courts to convict suspects of causing shaken baby syndrome to a child.
107
