Day 9

Question 1

A 2-year-old boy is brought to the GP by his mother.

She has noticed a red rash on the flexor aspects of his elbows and on the abdomen and reports he is constantly trying to scratch. On examination the child appears well.

There is evidence of excoriation over red patches of dry skin but there is no crusting or evidence of infection.

A diagnosis of eczema is made.

What is the first line treatment in a child of this age?

Answer 1

This question focuses on the stepwise management of eczema in children. The child in this scenario has a new diagnosis and has not tried any treatment. The first-line treatment is topical emollients. If necessary, topical steroids can be used alongside the emollients, but emollients must be used before steroids can be added.

Question 2

What is Kallman’s syndrome?

Answer 2

Kallman’s syndrome is a cause of delayed puberty secondary to hypogonadotrophic hypogonadism.

Question 3

A 17-year-old male with a history of cystic fibrosis presents to clinic for annual review.

What is the most appropriate advice regarding his diet?

Answer 3

High calorie and high fat with pancreatic enzyme supplementation for every meal

Question 4

Cystic Fibrosis key points (5)

Answer 4

• regular (at least twice daily) chest physiotherapy and postural drainage. Parents are usually taught to do this. Deep breathing exercises are also useful
• high calorie diet, including high fat intake*
• patients with CF should try to minimise contact with each other to prevent cross infection with Burkholderia cepacia complex and Pseudomonas aeruginosa
• vitamin supplementation
• pancreatic enzyme supplements taken with meals
• lung transplantation - chronic infection with Burkholderia cepacia is an important CF-specific contraindication to lung transplantation

Question 5

How are CF patients with delta F508 mutation treated?

Answer 5

Lumacaftor/Ivacaftor (Orkambi)

is used to treat cystic fibrosis patients who are homozygous for the delta F508 mutation

lumacaftor increases the number of CFTR proteins that are transported to the cell surface

ivacaftor is a potentiator of CFTR that is already at the cell surface, increasing the probability that the defective channel will be open and allow chloride ions to pass through the channel pore

Question 6

(3)

Answer 6

Biliary atresia typically presents in the first few weeks of life with jaundice, appetite and growth disturbance

Biliary atresia causes fibrous obstruction of the extra-hepatic biliary ducts that can progress to liver failure.

The presentation typically includes jaundice with high conjugated bilirubin, growth and feeding disturbance, and hepatomegaly with raised liver transaminases (GGT most raised).

Question 7

What are Dubin-Johnson and Rotor syndromes?

(3)

Answer 7

Both case jaundice and elevated conjugated bilirubin.

However, liver function derangement is not present.

Both of these conditions are autosomal recessive.

Question 8

What is Gilbert’s syndrome?

(5)

Answer 8

Gilbert’s is an autosomal recessive* condition of defective bilirubin conjugation due to a deficiency of UDP glucuronosyltransferase.

Features

• unconjugated hyperbilirubinaemia (i.e. not in urine)
• jaundice may only be seen during an intercurrent illness, exercise or fasting

Investigation and management

• investigation: rise in bilirubin following prolonged fasting or IV nicotinic acid
• no treatment required

Question 9

A 7-year-old boy is referred to the enuresis clinic by his GP. His mother initially contacted the GP concerned with ongoing bedwetting and it transpires that the boy has never had a ‘dry night’.

The GP has provided general advice on diet, fluid intake and toileting behaviour, though the mother says the bedwetting has not resolved. Despite the use of a reward system, the boy still wets the bed at night and the mother is getting concerned.

She speaks to the enuresis clinic and is sent home with an intervention.

What is this intervention likely to be?

Answer 9

An enuresis alarm is generally used first-line for nocturnal enuresis if general advice has not helped

Desmopressin is usually offered if the enuresis alarm does not work.

Question 10

A 12-week-old baby is bought to his GP by his mother. She reports he has had regurgitation and vomiting after most feeds and ongoing diarrhoea which contains significant amounts of mucus. She is particularly concerned about his crying, as she finds it very hard to settle him and she has noted that he often pulls his legs up to his chest during these episodes.

He was born at full term and was a healthy weight at birth (although he has recently trailed off of his centile). He is formula-fed. Other than his apparent gastrointestinal problems, his only past medical history is some eczema managed with emollients.

What is the next step in management?

Answer 10

Trial of extensively hydrolysed formula is the best option here as the baby’s symptoms of vomiting mucus stool and ‘colic’-type episodes fit most with cow’s milk protein allergy. If the extensively hydrolysed formula resolves the symptoms then this essentially confirms this diagnosis and must be continued instead of normal formula milk. If it does not, amino acid-based formula (AAF) may be trialled and/or further investigations may be required.

Question 11

You are attending labour for an emergency Caesarean section for failure to progress. The operation goes on without any complications. The baby cries immediately after birth and there is 30 seconds of delayed cord clamping. On examination, baby is centrally pink with blueish hands and feet. Saturation probes are attached to the baby and show an oxygen saturation of 73% at 1 minute.

What is the most appropriate next step in management?

Answer 11

In first 10 minutes of life, suboptimal SpO2 readings can be expected from a healthy neonate.

Observe and reassess at next interval

Question 12

A 12-year-old high school pupil presents to you in GP with low mood. When you discuss the background of her mood it emerges that she has been bullied for having had sex with a 17-year-old boy in the same school. This only happened once and no alcohol or drugs were involved. She said that she wasn’t forced to have sex with him and that ‘it was consensual’.

What is the most appropriate immediate course of action?

Answer 12

You should disclose that this girl has been sexually active to the relevant authority

The issue of consent and confidentiality for young people around sexual issues can often be difficult, however, there is no doubt in this case.

Option 1 is the correct answer.

Legally, children under the age of 13 are unable to consent to sex. As such, you should normally disclose this. Any decision to not disclose should be discussed with a named or designated doctor for child protection and should be properly documented. It is very rare that this should happen.

Question 13

A mother brings her child as she is concerned he is clumsy compared to other similar aged children. At what age would the average child acquire a good pincer grip?

Answer 13

12 months

Question 14

A 14-year-old boy is brought in to the General Practitioner as his mother states that he has been struggling at school over the past year.

He has a past medical history of recurrent otitis media.

The mother states that her nephew and niece have both needed additional support at school and the latter also has Attention Deficit Hyperactivity Disorder (ADHD).

His birth history and early childhood development were normal.

On examination, he has an elongated face and protruding ears.

What is the most likely diagnosis?

Answer 14

Fragile X syndrome is the most common cause of inherited neurodevelopmental delay

The combination of a family history of neurodevelopmental delay, the characteristic facies and the past history of recurrent otitis media all point towards Fragile X syndrome, Fragile X syndrome is largely considered to have an X-linked dominant inheritance albeit with variable expressivity. It is more common in males than females, with approximately 1 in 4000 men being affected. It is also commonly associated with Attention Deficit Hyperactivity Disorder.

Question 15

A four-month-old boy presents to the emergency department with a 12-hour history of irritability, fever and vomiting. Observations include respiratory rate: 42/min, heart rate: 147/min, blood pressure: 74/40 mmHg and temperature: 39.5ºC. Examination reveals a bulging anterior fontanelle and reduced tone in all four limbs.

What would be the most appropriate initial drug to prescribe for this patient?

Answer 15

Initial empirical therapy for meningitis if > 3 months of age: IV 3rd generation cephalosporin

Antibiotics

< 3 months: IV amoxicillin (or ampicillin) + IV cefotaxime

> 3 months: IV cefotaxime (or ceftriaxone)

Question 16

A 2 day old baby who was born by a ventouse delivery is noted to have a swelling on the left side of his head in the parietal region.

His head appeared normal immediately after delivery. O

n examination, the baby is well and the swelling does not cross suture lines. The fontanelles and sutures appear normal.

What is the most likely diagnosis?

Answer 16

Cephalohaematoma

A cephalohaematoma appears as a swelling due to bleeding between the periosteum and the skull. It is most commonly noted in the parietal region and is associated with instrumental deliveries. The swelling usually appears 2-3 days following delivery and does not cross suture lines. It gradually resolves over a number of weeks.

Question 17

A 9-year-old boy presents to the general practitioner with his father complaining of right hip pain.

His father explains that he had the “flu” a few weeks ago.

His observations are as follows: he is alert, heart rate 78 bpm, respiratory rate 18 breaths/min, temperature 38.3ºC, blood pressure 118/76 mmHg, oxygen saturations, 99% on room air.

What is the diagnosis?

What is the most appropriate management?

Answer 17

The child is likely to have hip pain due to transient synovitis secondary to a previous illness, such as the flu.

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

Question 18

A 9-year-old girl is brought to see her GP by her mother with a 2 and a half week history of cough. Her mother says that she had a few days of coryzal symptoms around 3 weeks ago, shortly before the cough started. She says she coughs regularly that sometimes makes her vomit, and claims to have noticed a ‘whooping’ sound when she breathes in after a coughing fit. Her observations are all within normal limits.

Given the likely diagnosis, what is the appropriate treatment?

Answer 18

Whooping cough - azithromycin or clarithromycin if the onset of cough is within the previous 21 days

Question 19

Cardiac features of PDA (5)

Answer 19

• left subclavicular thrill
• continuous ‘machinery’ murmur
• large volume, bounding, collapsing pulse
• wide pulse pressure
• heaving apex beat

Question 20

A 3-year-old boy is brought into resus in cardiac arrest.

The patient was brought in by ambulance with his mother.

She is too distraught to give any history other than the child had been okay when she had left the room.

He was found unconscious on her return so an ambulance was called.

Which of the reversible causes of cardiac arrest are most likely in this situation?

Answer 20

The most common causes of arrest in children are respiratory

The most likely cause of this arrest was hypoxia as the most common cause of paediatric arrest is a respiratory arrest. In this case, hypoxia is likely due to a choking episode due to the child’s age and the lack of a clear history for another cause. Choking episodes are common causes of collapse and arrest in young ambulant children, particularly toddlers.

Question 21

What are the general rules for dominant vs receive conditions?

Answer 21

Autosomal recessive conditions are ‘metabolic’ - exceptions: inherited ataxias

Autosomal dominant conditions are ‘structural’ - exceptions: Gilbert’s, hyperlipidaemia type II

Autosomal recessive conditions are often thought to be ‘metabolic’ as opposed to autosomal dominant conditions being ‘structural’, notable exceptions:

• some ‘metabolic’ conditions such as Hunter’s and G6PD are X-linked recessive whilst others such as hyperlipidaemia type II and hypokalaemic periodic paralysis are autosomal dominant
• some ‘structural’ conditions such as ataxia telangiectasia and Friedreich’s ataxia are autosomal recessive

Question 22

Genetics of myotonic dystorophy

(4)

Answer 22

autosomal dominant

a trinucleotide repeat disorder

DM1 is caused by a CTG repeat at the end of the DMPK (Dystrophia Myotonica-Protein Kinase) gene on chromosome 19

DM2 is caused by a repeat expansion of the ZNF9 gene on chromosome 3

Question 23

General features of myotonic dystrophy

(5)

Answer 23

• myotonic facies (long, ‘haggard’ appearance)
• frontal balding
• bilateral ptosis
• cataracts
• dysarthria

Question 24

A sporty teenage boy presents with pain, tenderness and swelling over the tibial tubercle

What is the diagnosis?

Answer 24

Osgood-Schlatter disease

Question 25

Continuous 'machinery' murmur is associated with which condition

Answer 25

patent ductus arteriosus

Question 26

What is Benign rolandic epilepsy (2)

Answer 26

**Benign rolandic epilepsy (BRE)** is the most common form of childhood epilepsy. It is referred to as "benign" because most children outgrow the condition by puberty. This form of epilepsy is characterized by seizures involving a part of the brain called the rolandic area.

Question 27

Feature of benign Rolandic epilepsy | (3)

Answer 27

seizures characteristically occur at night seizures are typically partial (e.g. paraesthesia affecting face) but secondary generalisation may occur (i.e. parents may only report tonic-clonic movements) child is otherwise normal

Question 28

What is tumour lysis syndrome (TLS)?

Answer 28

TLS occurs from the breakdown of the tumour cells and the subsequent release of chemicals from the cell. It leads to a high potassium and high phosphate level in the presence of a low calcium. It should be suspected in any patient presenting with an acute kidney injury in the presence of a high phosphate and high uric acid level.

Question 29

You are an F1 working in the emergency department. One morning a 14-year-old girl is admitted from her secondary school with nausea and abdominal pain. On examination, she is found to be septic and can only provide a brief history before becoming drowsy. The surgical team believes she has an appendicitis which may have perforated requiring emergency surgery. Her parents are not contactable with the numbers given by the school. The patient is not alert enough to consent to the operation herself. What is the most appropriate action?

Answer 29

Take the patient to surgery immediately

Question 30

A mother brings her 2-month-old son into the surgery to receive his first set of vaccinations. She is hesitant to vaccinate him, and particularly sceptical about the recent addition of the the rotavirus vaccine to the immunisation programme. What can you tell her about the rotavirus vaccine? (3)

Answer 30

## Footnote it is an oral, live attenuated vaccine 2 doses are required, the first at 2 months, the second at 3 months the first dose should not be given after 14 weeks + 6 days and the second dose cannot be given after 23 weeks + 6 days due to a theoretical risk of intussusception **Other points** the vaccine is around 85-90% effective and is predicted to decrease hospitalisation by 70% offers long-term protection against rotavirus

Question 31

Answer 31

Acute lymphoblastic leukaemia With the symptoms of epistaxis and bruising leukaemia is the most likely choice out of the options given. This is compounded by the anaemia associated with low platelets. Disseminated intravascular coagulation is also hinted at by the low platelets and prolonged prothrombin time. This would also fit with acute lymphoblastic leukaemia. Acute myeloid leukaemia is unlikely due to the age group. White blood cells are normal which would point away from a long standing infection. Although aplastic anaemia and myelodysplasia would give lowered erythrocytes and platelets, they would not produce the symptoms of epistaxis and bruising.

Question 32

A mother brings her 5-week-old newborn baby to see you. She reports that she has noticed that his belly button is always wet and leaks out yellow fluid. On examination, you note a small, red growth of tissue in the centre of the umbilicus, covered with clear mucus. The child is otherwise well, apyrexial and developing normally. What is the most likely diagnosis? What is the treatment?

Answer 32

**An umbilical granuloma is an overgrowth of tissue which occurs during the healing process of the umbilicus.** It is most common in the first few weeks of life. On examination, a small, red growth of tissue is seen in the centre of the umbilicus. It is usually wet and leaks small amounts of clear or yellow fluid. It is treated by regular application of salt to the wound, if this does not help then the **granuloma can be cauterised with silver nitrate.**

Question 33

What is the treatment for tumour lysis syndrome? (3)

Answer 33

Patients at high risk of TLS should be given IV **allopurinol** or IV **rasburicase** immediately prior to and during the first days of chemotherapy. Rasburicase is a recombinant version of urate oxidase, an enzyme that metabolizes uric acid to allantoin.

Question 34

A 3-year-old boy presents to the GP with his mother who explains he has been unwell for the past 24 hours. The mother explains that the boy has been feverish and has not been eating his food. On general inspection, the child looks sickly and flushed. There is a diffuse **maculopapular** **rash** across his chest and back and small white papules on the inside of his cheeks. What is the likely diagnosis? What is the most frequent complication? Which investigation should be performed? How is the condition managed?

Answer 34

The most likely diagnosis here is **measles** due to the characteristic fever, maculopapular rash, and koplik spots (white papules on the buccal mucosa that often present before the rash). The most common complication of measles is otitis media IgM antibodies can be detected within a few days of rash onset management is supportive

Question 35

What is the average age at which a child attains the ability to hop on one leg?

Answer 35

3-4 years

Question 36

What is the average age at which a child attains the ability to pull to standing?

Answer 36

8-10 months

Question 37

What is the average age at which a child attains the ability to squat to pick up ball?

Answer 37

18 months

Question 38

A 4-year-old boy presents with his mother who is worried, as she notices that his urine is often a dark reddish colour. She is also concerned that he has begun to eat less and less over the past couple of weeks. `On examination he is afebrile and there is no history of any recent illness. The mother mentions that his father and grandfather both had kidney trouble but is unsure of what their diagnosis was. Examination reveals a distended abdomen which is soft and non-tender. A palpable mass is felt in the right flank. What is the most likely diagnosis?

Answer 38

**Wilms' tumour** Given the boy's age, and the symptom of haematuria with no reports of any pain, a palpable non-tender mass and a reduction in appetite with a distended abdomen **Wilms' tumour is the most likely diagnosis.** Renal cysts depending on their size often give rise to pain on palpation similar with polycystic kidney disease. Urinary tract infections are often painful and are accompanied by a feeling of unwellness, therefore, it is unlikely. Hydronephrosis is accompanied by a distended abdomen which becomes increasingly painful as the bladder further expands and is, therefore, an unlikely diagnosis in this case.

Question 39

What is Wilm's tumour? When does it typically present? (3) What are the features? (6)

Answer 39

**When does it typically present? (3)** Wilms' nephroblastoma is one of the most common childhood malignancies. It typically presents in children under 5 years of age, with a median age of 3 years old. **What are the features? (6)** * abdominal mass (most common presenting feature) * painless haematuria * flank pain * other features: anorexia, fever * unilateral in 95% of cases * metastases are found in 20% of patients (most commonly lung)

Question 40

Management of Wilm's tumour | (4)

Answer 40

Management * nephrectomy * chemotherapy * radiotherapy if advanced disease * prognosis: good, 80% cure rate

Question 41

# Define Enucleation (2)

Answer 41

Enucleation is the surgical procedure that involves the r**emoval of the entire eye** and its intraocular contents but w**ith preservation of all other periorbital and orbital structures**.

Question 42

What is the typical demographic of retinoblastoma? (2)

Answer 42

Retinoblastoma is the most common ocular malignancy found in children. The average age of diagnosis is 18 months.

Question 43

What is the pathophysiology of retinoblastoma? What is the genetic cause? (3)

Answer 43

**Pathophysiology** ## Footnote autosomal dominant caused by a loss of function of the retinoblastoma tumour suppressor gene on chromosome 13 around 10% of cases are hereditary

Question 44

What are the features of retinoblastoma? (3)

Answer 44

**Features** ## Footnote absence of red-reflex, replaced by a white pupil (leukocoria) - the most common presenting symptom strabismus visual problems

Question 45

A 2-year-old boy is seen by his GP as he has had recurrent respiratory infections requiring hospitalisation. The health visitor has also noted that his weight has dropped from the 4th to the 2nd centile on the growth chart. He was born at term with a normal birth weight. On examination, it is noted that he has nasal polyps. What is the most likely underlying problem?

Answer 45

**Nasal polyps are associated with cystic fibrosis** Recurrent serious respiratory tract infections and weight loss in a child should prompt consideration of cystic fibrosis. In this question, this is the most likely answer due to the presence of nasal polyps, which are associated with cystic fibrosis. Recurrent bronchiolitis may also lead to hospitalisations, and could possibly cause weight loss due to poor feeding. However, bronchiolitis is not associated with nasal polyps. Bronchopulmonary dysplasia causes respiratory distress, but is usually seen in premature infants with low birth weights and is not associated with nasal polyps. There is no evidence of neglect in this question and the presence of nasal polyps indicates an underlying disease process.

Question 46

A 5-week-old girl is brought to the GP surgery with a rash on her scalp: What is the diagnosis? (1) What is the most appropriate management? (2) How long will it take to resolve? (1)

Answer 46

**_Management depends on severity_** mild-moderate: baby shampoo and baby oils severe: mild topical steroids e.g. 1% hydrocortisone Seborrhoeic dermatitis in children tends to resolve spontaneously by around 8 months of age **Seborrhoeic dermatitis in children tends to resolve spontaneously by around 8 months of age**

Question 47

A 4-year-old boy presents to the GP with his mother. She reports he developed a fever and a sore throat 3-days previously and is now presenting with a widespread rash over his trunk and legs. On examination, the child is febrile, flushed, and lethargic, with a widespread erythematous rash over his trunk and legs, that has a rough texture. Throat examination reveals a swollen red tongue with cervical lymphadenopathy. What is the diagnosis? (1) How should he be treated? (1)

Answer 47

**Scarlet fever is characterised by a sandpaper rash** Scarlet fever is correct. This child is presenting with signs and symptoms of scarlet fever, with a characteristic sandpaper rash, swollen tongue, and lymphadenopathy. **He should be given a 10-day course of penicillin V for an underlying group-A streptococcal infection**, advised to stay off school for 24-hours after starting the antibiotics, and public health should be notified.

Question 48

Which drugs have been shown to have no effect on the prevalence of febrile convulsions?

Answer 48

anti-pyretics

Question 49

A 32-year-old mother, gravida 5 presents in labour having had no antenatal follow up. The neonate is born with the bowel protruding out of the abdomen but you note that it has a peritoneal covering protecting it. What is the name of this condition? What is the optimal management of the protruding bowel?

Answer 49

**Exomphalos** should have a gradual repair to prevent respiratory complications. Staged closure starting immediately with completion at 6-12 months **Not to be confused with gastroschisis** requires urgent correction

Question 50

Difference between exomphalos and gastroschisis

Answer 50

Question 51

A 32-year-old woman has just had her 34 week check. The patient reported reduced fetal movements 2 days ago, but they are now back to normal. She underwent an ultrasound to check if there were any problems. The obstetrician explains he found a defect in the abdominal wall and the intestines are outside the baby's body but contained within a membrane. The baby is otherwise healthy. Which is the most suitable delivery option for this patient?

Answer 51

**If an unborn has exomphalos then caesarean section is indicated to reduce the risk of sac rupture** This baby is most likely to have exomphalos since the abdominal content is contained within a membrane. The most appropriate option would be to plan for a caesarean section. It can be possible to deliver vaginally, but a caesarean section is the safest approach to delivery.

Question 52

A 1-year-old girl is investigated for recurrent urinary tract infections. A micturating cystourethrogram is ordered: What is the diagnosis? What do the red circles show?

Answer 52

**Vesicoureteric reflux** Pathophysiology of VUR * ureters are displaced laterally, entering the bladder in a more perpendicular fashion than at an angle * therefore shortened intramural course of the ureter * **vesicoureteric junctions** cannot, therefore, function adequately

Question 53

A baby girl born 4 weeks ago has had persistent jaundice since 48 hours after birth. Her parents also noticed she is reluctant to take on breastfeeding and her urine appears quite dark. Upon your examination, you confirm the infant is jaundiced and notice a firm, enlarged liver. You review her bloods which show a conjugated hyperbilirubinaemia. Her serum alpha-1 antitrypsin levels and electrophoresis are normal and the neonatal heel prick test performed at birth was negative. What is the diagnosis? What is the treatment of choice for this condition?

Answer 53

**Surgery is the treatment** of choice for **biliary atresia** The cause of prolonged jaundice in this infant is biliary atresia, a condition involving either obliteration or discontinuity within the extrahepatic biliary system. Biliary atresia results in an obstruction in the flow of bile and the presentation of a cholestatic picture, including pale stools and dark urine. Relevant investigations include bilirubin levels, liver function tests and tests to exclude differential diagnoses such as **alpha-1 antitrypsin deficiency** and **cystic fibrosis**. Abdominal ultrasound provides an initial indication of biliary anatomy, and liver biopsy and intraoperative cholangiogram confirm the diagnosis.

Question 54

Causes of neonatal jaundice with in the first 24 hours (3)

Answer 54

biliary atresia Alpha 1 antitrypsin deficiency cystic fibrosis

Question 55

Two different types of emphysema

Answer 55

Question 56

A 5-year-old boy is brought to the Emergency Department by his parents. He has been complaining of pain around his left hip for the past fortnight and has been limping. He is apyrexial and examination of his left hip joint shows a slight reduction in the range of movement. There are no signs of effusion or swelling. His right hip is unremarkable. Blood tests, including cultures, come back negative. What is the most likely diagnosis? What is the treatment?

Answer 56

**Perthes' disease** presenting under the age of 6 years has a good prognosis **requiring only observation**

Question 57

Features of Perthe's disease | (4)

Answer 57

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

Question 58

x-ray finding of Perthe's disease

Answer 58

x-ray: early changes include: * widening of joint space, * later changes include decreased femoral head size/flattening

Question 59

A 6-month-old girl is brought to see GP by her dad with a seal-like barking cough. Her dad is worried as she seems to be struggling with her breathing, **especially at night.** On examination, she is alert and engaging, although has mild sternal indrawing and appears tired. Her observations are as follows: * Heart rate: 80 bpm * Blood pressure: 105/65 mmHg * Oxygen saturation: 100% on air * Respiratory rate: 22 breaths/min * Temperature: 37.1 C° What is the most likely diagnosis? What is the epidemiology?

Answer 59

Croup **Epidemiology** * peak incidence at 6 months - 3 years * more common in autumn

Question 60

Management of A1 antitrypsin deficiency | (4)

Answer 60

## Footnote no smoking supportive: bronchodilators, physiotherapy intravenous alpha1-antitrypsin protein concentrates surgery: lung volume reduction surgery, lung transplantation

Question 61

A 48 hour old neonate develops increasing abdominal distension. He had a normal delivery but has yet to pass any meconium. Following digital rectal examination liquid stool is released. What is the most likely diagnosis?

Answer 61

**Hirschsprungs** may present either with features of bowel obstruction in the neonatal period or more insidiously during childhood. After the PR there may be an improvement in symptoms. Diagnosis is by full thickness rectal biopsy.

Question 62

A 7 month old girl presents with vomiting and diarrhoea. She is crying and drawing her legs up. There is a a sausage shaped mass in the abdomen. What is the most likely diagnosis?

Answer 62

Sausage shaped mass (colon shaped) is common in **intussusception**. The other common sign is red jelly stool.

Question 63

A 1 month old baby girl presents with bile stained vomiting. She has an exomphalos and a congenital diaphragmatic hernia. What is the most likely diagnosis?

Answer 63

Exomphalos and diaphragmatic hernia are commonly associated with **malrotation**.

Question 64

What are VACTERLs? What are they associated with?

Answer 64

associated with oesophageal atresia

Question 65

What is mesenteric adenitis? What are the key features?

Answer 65

Mesenteric lymphadenitis (also known as mesenteric adenitis) is inflammation (swelling) of the lymph nodes in the abdomen (belly). Lymph nodes are organs that are part of the body's immune system. * Central abdominal pain and URTI * Conservative management

Question 66

Key features of malrotation | (5)

Answer 66

High caecum at the midline Feature in exomphalos, congenital diaphragmatic hernia, intrinsic duodenal atresia May be complicated by the development of volvulus, an infant with volvulus may have bile stained vomiting Diagnosis is made by upper GI contrast study and USS Treatment is by laparotomy, if volvulus is present (or at high risk of occurring then a Ladd's procedure is performed

Question 67

Key features of intussusception | (5)

Answer 67

Telescoping bowel Proximal to or at the level of, ileocaecal valve 6-9 months of age Colicky pain, diarrhoea and vomiting, sausage-shaped mass, red jelly stool. Treatment: reduction with air insufflation

Question 68

Key features of pyloric stenosis | (5)

Answer 68

M\>F 5-10% Family history in parents Projectile non bile stained vomiting at 4-6 weeks of life Diagnosis is made by test feed or USS Treatment: Ramstedt pyloromyotomy (open or laparoscopic)

Question 69

Key features of Hirschsprung's disease | (5)

Answer 69

Absence of ganglion cells from myenteric and submucosal plexuses Occurs in 1/5000 births Full-thickness rectal biopsy for diagnosis Delayed passage of meconium and abdominal distension Treatment is with rectal washouts initially, after that an anorectal pull through procedure

Question 70

Key features of Meconium ileus | (4)

Answer 70

Usually delayed passage of meconium and abdominal distension The majority have cystic fibrosis X-Rays will not show a fluid level as the meconium is viscid, PR contrast studies may dislodge meconium plugs and be therapeutic Infants who do not respond to PR contrast and NG N-acetyl cysteine will require surgery to remove the plugs

Question 71

Key features of biliary atresia | (3)

Answer 71

Jaundice \> 14 days Increased conjugated bilirubin Urgent Kasai procedure

Question 72

Key features of necrotising enterocolitis (5)

Answer 72

Prematurity is the main risk factor Early features include abdominal distension and passage of bloody stools X-Rays may show pneumatosis intestinalis and evidence of free air Increased risk when empirical antibiotics are given to infants beyond 5 days Treatment is with total gut rest and TPN, babies with perforations will require laparotomy

Question 73

A 4-year-old boy presents to the GP with a pink spotted rash on his torso which has now spread to all limbs. On further questioning his mother states that he has had a high grade fever for 3 days prior, and in fact seemed to be getting better before the onset of this rash. He is now afebrile. On examination there is a maculopapular red rash over his trunk and limbs. All other examinations are normal. Observations are stable. What is the likely diagnosis?

Answer 73

Roseola infantum typically starts with a high grade fever which resolves before the onset of the rash. The rash typically starts abruptly after the temperature subsides, and usually starts on the trunk before spreading to the limbs. It is a maculopapular rash and it not itchy.

Question 74

You see a 6 week-old baby boy for his routine baby check and note a small, soft, umbilical hernia on examination. What should you do?

Answer 74

**Watch and wait** Small umbilical hernias are common in babies and tend to resolve by 12 months of age. Parents should be reassured no treatment is usually required but to be aware of the signs of obstruction or strangulation such as vomiting, pain and being unable to push the hernia in - this is rare in infants. Advise the parents to present the child at around 2 years of age if the hernia is still present to arrange referral to a surgeon. Attempts to treat the hernia by strapping or taping things over the area are not helpful and can irritate the skin.

Question 75

At what age would the average child acquire the ability to walk unsupported?

Answer 75

13-15 months

Question 76

A 4-year-old boy is brought in by his mother. He was mildly unwell yesterday with a fever, lethargy and sore throat. Today, his mum is alarmed as she has noticed 'blisters' in and around his mouth and he is reluctant to eat or drink. On examination the child looks miserable, but not unwell, his temperature is 38.2ºC and he has a mix of shallow ulcers and erythematous papules scattered over his hard palate, tongue and lips. Examining further you also notice that there are a few erythematous maculopapular lesions along the sides of his fingers, around his right heel and over his buttocks. What is the most likely diagnosis?

Answer 76

**The answer here is hand foot and mouth disease.** The typical clinical features are seen in the history- a mild illness with systemic upset, sore throat, fever, then oral ulcers and lesions on the hands and feet. It is important to note that the lesions may also be found around the groin or buttocks. The rash is typically made up of 25 mm scattered erythematous macules and papules, often with a central greyish vesicle.

Question 77

Describe the appearance of the rash in hand/foot/mouth disease

Answer 77

erythematous macules papules

Question 78

A mother brings her 11-month-old son to the emergency department because she is concerned about a rash he has developed. On further questioning, the mother describes that the rash started 2 days ago, initially behind the ears but has since spread. Prior to developing the rash, the infant was generally unwell with a cough and a fever. He is currently up to date with vaccines but the mother knows that he is supposed to have some more soon though she has not booked an appointment for these yet. On examination you note that he is irritable, has white spots in his mouth and his eyes appear inflamed. What is the diagnosis What is he at risk of then developing?

Answer 78

The most common complication of **measles** is **otitis** **media**

Question 79

A 17-year-old girl presents to her GP as she has not started menstruating. On examination, you note her short stature and webbed neck. What is the likely diagnosis? What is the cardiac deformation? What would you expect to hear on auscultation of her heart?

Answer 79

**Turner's** **syndrome** is associated with an **ejection** **systolic** **murmur** due to **bicuspid** **aortic** **valve**

Question 80

Which condition is associated with a late systolic murmur? (2)

Answer 80

Late systolic murmurs are caused by **mitral** **valve** **prolapse** **aortic** **coarctation**

Question 81

Which condition is associated with Mid-late diastolic murmur. (2)

Answer 81

Mid-late diastolic murmurs are caused by **mitral stenosis** Mitral stenosis is caused by rheumatic fever.

Question 82

Which condition is asocitated with a **pansystolic murmur.**

Answer 82

Pansystolic murmurs are caused by: **mitral regurgitation** **tricuspid** **regurgitation** **ventricular septal defects**

Question 83

You are consulting with a family whose son has been referred due to suspected learning difficulties. Whilst talking to his parents, you observe the son has a bubbly outgoing personality, and contemplate whether this might be a case of William's syndrome. What physical feature would most support this diagnosis?

Answer 83

**William's** syndrome - associated with **elfin facies** Small people and children are often described as having elfin faces, particularly if there's a mischievous spark in their eyes. If your friend's ears are unusually petite — and rather adorable — you can describe them as elfin.

Question 84

Webbing of the neck is associated with which syndromes? (2)

Answer 84

Webbing of the neck is associated with **Turner's** **syndrome** and **Noonan's** **syndrome**.

Question 85

A 20-year-old gentleman would like to have a discussion regarding Huntington's disease, which both his father and his grandfather suffered from. He is aware that there is a phenomenon called 'genetic anticipation.' **What is genetic anticipation?** **Which other conditions also exhibit genetic anticipation?**

Answer 85

Trinucleotide repeat disorders are genetic conditions caused by an abnormal number of repeats (expansions) of a repetitive sequence of three nucleotides. These expansions are unstable and may enlarge which may lead to an earlier age of onset in successive generations - a phenomenon known as **anticipation** * Fragile X (CGG) * Huntington's (CAG) * myotonic dystrophy (CTG) * Friedreich's ataxia\* (GAA)

Question 86

You are performing a baby check on infant delivered earlier that day and you notice scleral jaundice and a yellow pigmentation of the skin. Which tests should be performed? (2) Which conditions are you searching for? (4) What is the first line management option? (1)

Answer 86

t would be correct to say that an **osmotic fragility test** would also be useful in the diagnosis but that option is not provided. Another useful test would be a **Coomb’s test** (this would be positive in RHD). Jaundice \<24h is always pathological and your differentials are: * rhesus haemolytic disease (RHD) * ABO incompatibility * Glucose-6-phosphate dehydrogenase (G6PD) deficiency * hereditary spherocytosis **_First-line therapy is phototherapy_**

Question 87

A 5-week-old infant is brought into the emergency department by his mother with vomiting after every feed. The vomit is non-bilious, large volume and projectile. His mother reports this was initially small amounts of vomit and infrequent, but has increased in volume and regularity over the past week. The infant appears keen to try feeding again after each vomiting episode. Examination reveals an olive-sized mass in the right upper quadrant and a succussion splash can be heard on auscultation. The infant is admitted and has an ultrasound which shows increased pyloric muscle thickness, length, pyloric volume and pyloric transverse diameter leading to a confirmation of the diagnosis of pyloric stenosis is made. What is the surgical management that should be offered for this infant?

Answer 87

**The management of pyloric stenosis is with Ramstedt pyloromyotomy** Ramstedt pyloromyotomy is the definitive surgical management for pyloric stenosis. It involves dividing the pyloric muscle to increase the diameter of the gastric outlet. The surgery is performed laparoscopically or through a single incision point.

Question 88

Hydrostatic or air-contrast enema is used in the management of which condition?

Answer 88

intussusception

Question 89

A **Heller myotomy** may be appropriate in the management of which condition

Answer 89

achalasia Achalasia is a rare disorder that makes it difficult for food and liquid to pass from the swallowing tube connecting your mouth and stomach (esophagus) into your stomach. Achalasia occurs when nerves in the esophagus become damaged.

Question 90

Which test is performed during the first month of life?

Answer 90

**Heel-prick test day 5-9:** * hypothyroidism * PKU * metabolic diseases * cystic fibrosis * medium-chain acyl Co-A dehydrogenase deficiency (MCADD) Midwife visit up to 4 weeks\*

Question 91

When are the NIPEs performed? (2) What do they test for? (4)

Answer 91

**72 hours of birth (NIPE newborn screening examination)** and again at **6 to 8 weeks of age (NIPE infant examination)** for conditions relating to the: * eyes * heart * hips * testes (if applicable)

Question 92

A GP incidentally discovers a murmur in an 8-year-old girl. The murmur is described as a 'continuous blowing noise' heard below both clavicles. What is the most likely type of murmur diagnosed?

Answer 92

**Venous** **hum** is a benign murmur heard in children and sounds like a **continuous blowing noise** heard below the clavicles

Question 93

What is a venous hum? Where is it heard? What does it sound like?

Answer 93

Benign murmur beneath both clavicles continuous hum

Question 94

What is Still's murmur? Where is it heard? What does it sound like?

Answer 94

benign murmur lower left sternal edge Low-pitched sound

Question 95

You are working at the paediatric oncology unit and you are called to talk to the parents of a 5-year-old girl who has just been diagnosed with acute lymphoblastic leukaemia (ALL). Her parents are concerned as they have a older son and are worried that he is also at an increased risk of getting ALL too. What can you tell them about the epidemiology of acute lymphoblastic leukaemia?

Answer 95

Acute Lymphoblastic Leukaemia has a peak incidence of 2-5 years. Affects slightly more boys than girls and accounts for 80% of childhood leukaemias.

Question 96

**_Poor prognostic factors for ALL_** | (5)

Answer 96

**_Poor prognostic factors_** ## Footnote age \< 2 years or \> 10 years WBC \> 20 \* 109/l at diagnosis T or B cell surface markers non-Caucasian male sex

Question 97

What is the definition of neonatal death?

Answer 97

Neonatal death is defined as babies dying between 0-28 days of birth

Question 98

What is the definition of **puerperal** **death**?

Answer 98

Puerperal death refers to a maternal death within the puerperal period (first 6 weeks after birth).

Question 99

What is the difference between an early and late neonatal death? (2)

Answer 99

An early neonatal death refers to death within the first week of life. A late neonatal death refers to death after 7 days of life but before 28 days.

Question 100

A newborn female baby is noted to have a clicky left hip during the routine newborn examination. What is the most appropriate investigation?

Answer 100

**_Screening for DDH_** the following infants require a routine **ultrasound** examination * first-degree family history of hip problems in early life * breech presentation at or after 36 weeks gestation, irrespective of presentation at birth or mode of delivery * multiple pregnancy **however, if the infant is \> 4.5 months then x-ray is the first line investigation**

Question 101

A premature infant is admitted to hospital following signs of heart failure soon after birth. She has poor feeding associated with heavy sweating and tiring out. This has resulted in her not gaining weight as expected. Her parents also report irritability and periods of apnoea. On examination, bounding peripheral pulses and a continuous machinery murmur are identified. An echocardiogram shows left ventricular enlargement and a shunt between two of the great vessels. A patent ductus arteriosus (PDA) is suspected. What non-surgical intervention could be used to manage this patient?

Answer 101

Indomethacin or ibuprofen is used in patent ductus arteriosus to promote duct closure

Question 102

Clinical features of PDA | (6)

Answer 102

left ventricular enlargement left subclavicular thrill continuous 'machinery' murmur large volume, bounding, collapsing pulse wide pulse pressure heaving apex beat

Question 103

A 14-year-old girl presents with a swollen left knee. Her parents state she suffers from haemophilia and has been treated for a right-sided haemarthrosis previously. What other condition is she most likely to have? (2)

Answer 103

Haemophilia is a X-linked recessive disorder and would hence be expected only to occur in males. As patients with Turner's syndrome only have one X chromosome however, they may develop X-linked recessive conditions

Question 104

A 13-year-old boy comes into the Emergency Department with his parents, as he has had left-sided hip pain for the last few days. X-rays show a slipped upper femoral epiphysis (SUFE). What is the definitive management of this condition? What is at risk of developing if left untreated? What should the plan be?

Answer 104

**Management of a SCFE: internal fixation** A slipped upper femoral epiphysis is an emergency, as there is a risk of **avascular necrosis of the femoral head.** It therefore mandates immediate **referral to paediatric orthopaedics.**