Day 5 PAEDS

Question 1

Management of threadworm (2)

Answer 1

Single dose of oral mebendazole for the entire household and hygiene advice

Mebendazole is first line therapy for treatment of threadworm

Question 2

Answer 2

ALL is the most common childhood leukaemia and presents with anaemia, neutropaenia and thrombocytopaenia

Question 3

Symptoms of ALL

Answer 3

bone pain (secondary to bone marrow infiltration)

splenomegaly

hepatomegaly

fever is present in up to 50% of new cases (representing infection or constitutional symptom)

testicular swelling

Question 4

A 10-month-old boy is seen in the Emergency Department due to fever, cough and breathlessness. His observations are as follows:

temperature 38.1˚C,

heart rate 180 bpm,

respiratory rate 64/min,

oxygen saturations 93% on room air,

blood pressure 95/60 mmHg,

capillary refill time is 2 seconds.

His parents report a history of poor feeding over the past week. He has had a high temperature the past day. A senior clinician has admitted him and given intravenous (IV) antibiotics, IV fluids and supplementary oxygen. The patient is currently alert.

Which is the following in his presentation is a red flag according to the NICE paediatric traffic light system?

Answer 4

A respiratory rate of >60 per minute (at any age) is a red flag according to the NICE paediatric traffic light system

Question 5

An 8-year-old boy who is known to have asthma is reviewed. His current treatment is a salbutamol inhaler as required and beclometasone inhaler 100mcg bd.

Despite this, he regularly requires salbutamol for exacerbations and suffers with a night time cough.

Following NICE guidance, what is the most appropriate next step in management?

Answer 5

Child aged 5-16 years with asthma not controlled by a SABA + paediatric low-dose ICS asthma management in children 5-16 - add a leukotriene receptor antagonist

Trial of a leukotriene receptor antagonist

Question 6

Steps of asthma management

(7)

Answer 6

Question 7

A 3-year-old girl is brought to her general practitioner by her mother. She has had a dry cough and runny nose for the last 7 days, with a 6-day history of fevers up to 38.7ºC that have been resistant to paracetamol and ibuprofen.

On examination, she appears miserable and generally unwell. Her tongue appears bright red and there is a maculopapular rash on her trunk. There is bilateral conjunctival injection with no obvious discharge. There is palpable submandibular lymphadenopathy.

Given the likely diagnosis, what investigation should be used to screen for long-term complications?

(3)

Answer 7

Coronary artery aneurysms are a complication of Kawasaki disease and this should be screened for with an echocardiogram

Question 8

A pregnant woman’s perinatal ultrasound indicates that her baby is at risk of a cardiac congenital abnormality.

A cardiac ultrasound showed the foetal aorta and pulmonary trunk lying in parallel with an absence of crossing, confirming the suspected diagnosis.

After delivery, which medication should be commenced urgently in the newborn before corrective surgery can be performed for this condition?
(2)

Answer 8

Maintenance of the ductus arteriosus with prostaglandins is the initial management for duct dependent congenital heart disease

Prostaglandin E1

Question 9

A 4-month-old baby girl is reviewed. Four weeks ago you started a trial of alginate therapy (Gaviscon) for frequent regurgitation associated with distress.

Unfortunately, this has not resulted in any improvement in the symptoms and her mother now reports she appears to be refusing feeds.

There are no other new symptoms such as diarrhoea, rash and she appears to be putting on weight steadily.

She continues to be completely bottle fed after her mother stopped breastfeeding at 6 weeks of age.

What is the most appropriate next step in management?

Answer 9

PPI should be trialled in infants with GORD who do not respond to alginates/thickened feeds and who have

1. feeding difficulties,
2. distressed behaviour

or

3. faltering growth

Question 10

A 3-day-old neonate born prematurely at 34 weeks’ gestation has been slow to wean off the ventilator since birth. On examination, she has been found to have a continuous heart murmur.

An echocardiogram has detected a patent ductus arteriosus. No other structural heart abnormalities have been found. A chest x-ray shows cardiomegaly and mildly congested lung fields.

What initial treatment should be started to manage this condition?

Answer 10

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

Question 11

What is the average age that a child can sit up with a straight back, without support?

Answer 11

7-8 months

Question 12

What is the average age that a child can run?

Answer 12

16 months - 2 years

Question 13

What is the average a that a child is able to ride a tricycle using pedals

Answer 13

3 years

Question 14

A 3-year-old boy presents to the GP with nightly coughing bouts for the last 2 weeks. He has noisy breathing with an inspiratory whoop but no cyanosis or other signs on clinical examination. The GP diagnosis the patient with a whooping cough.

What would be the best first-line treatment for this patient?

Answer 14

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

Question 15

A 12-month old boy is brought to you by his mother, worried about an apparent developmental delay.

He was born at term without any antenatal or postnatal events. His mother feels he hasn’t developed skills in the same way as his older siblings, particularly with fine motor skills.

He was able to hold things in the palm of his hand at 9 months old and has recently learnt how to transfer an object between his hands.

What is the latest fine motor developmental milestone you would expect this child to have achieved?

Answer 15

Good pincer grip - 12 months

Question 16

Developmental milestones: fine motor and vision

3 months

6 months

9 months

12 months

Answer 16

Question 17

A 2-month-old previously healthy girl is brought into the GP by her mother who reports a change in her demeanour. She suspects her child has a fever. On examination the baby is feverish with temperature of 38.5 ºC but no other significant findings.

What is the appropriate next step?

Answer 17

A child aged < 3 months with a fever > 38ºC should be assessed as high risk of serious illness

A child younger than 3 months old with temperature higher than 38ºC warrants an urgent assessment. It is a red flag in the assessment of children with fever.

Question 18

Tommy is a 5-year-old boy who has been brought in to see you by his mother. She explains that Tommy has had a fever for 3 days and yesterday developed some ulcers in his mouth. Today, she noticed that there are red spots on Tommy’s hands and feet which have now started to concern her.

Out of the following, which virus is most likely the causes of Tommy’s symptoms?

Answer 18

Hand, foot and mouth disease is characterised by mild systemic upset, oral ulcers followed by vesicles on the palms and soles

Question 19

A 2-year-old child comes in to see you with his mother at the GP surgery. The mother tells you that for the past few months the child has been suffering from diarrhoea. On further questioning, she denies that it is foul smelling but does confirm it sometimes contains undigested food.

There are no other symptoms such as abdominal pain or bloating. You plot their height and weight, and it is appropriate for their age.

What’s the most likely diagnosis?

Answer 19

Toddler’s diarrhoea is a benign condition that causes the child no problems. It is due to the fast transit through their digestive system and often contains undigested food. It requires no treatment. It is prudent to plot their height and weight to ensure no severe underlying diagnosis is present such as coeliac, which would present with the child falling centiles on the growth chart.

Question 20

Features of toddler’s diarrhoea

(2)

Answer 20

Toddler’s diarrhoea is a benign condition that causes the child no problems.

It is due to the fast transit through their digestive system and often contains undigested food.

Question 21

Management of Toddler’s diarrhoea

(2)

Answer 21

It requires no treatment.

It is prudent to plot their height and weight to ensure no severe underlying diagnosis is present such as coeliac, which would present with the child falling centiles on the growth chart.

Question 22

A 7-year-old girl is brought into the general practice by her mother. She has been complaining of itching around her vulva and anus for 2 days. Her mother has noticed that the area is erythematous and she has broken the skin on her vulva from intensely itching. She has been applying sudocrem to the area to alleviate the irritation but it has not been successful. No one else is unwell or has these symptoms at home.

Considering the likely diagnosis, what is the most appropriate management?

Answer 22

Prescribe a single dose of mebendazole for the household and give hygiene advice

Question 23

Jessica is a 15-year-old girl who is admitted with abdominal pain. An ultrasound scan report comes back with findings consistent with appendicitis.

Her parents do not want her to go for surgery.

Jessica appears intelligent, mature beyond her years and is currently clinically stable.

After lengthy discussions with her parents and the surgical team, Jessica states she would like to go for surgery. Her parents are unhappy and say they will sue the hospital if she has an operation.

What is the right course of action?

Answer 23

Obtain written consent for appendicectomy from Jessica and take her to theatre

Question 24

Risk factors for developmental dysplasia of the hip (7)

Answer 24

• female sex: 6 times greater risk
• breech presentation
• positive family history
• firstborn children
• oligohydramnios
• birth weight > 5 kg
• congenital calcaneovalgus foot deformity

Question 25

Oligohydramnios definition

Answer 25

Oligohydramnios is when you have low amniotic fluid during pregnancy. Your healthcare provider diagnoses low amniotic fluid using an ultrasound.

Question 26

Polyhydramnios definition

Answer 26

Polyhydramnios (pol-e-hi-DRAM-nee-os) is the excessive accumulation of amniotic fluid — the fluid that surrounds the baby in the uterus during pregnancy.

Question 27

A 6-year-old boy is brought to surgery by his mother.

For the past 2 months he has been complaining of pain in his shins and ankles at night-time.

His symptoms are bilateral he is otherwise well.

There is no family history of note.

Clinical examination is unremarkable.

What is the most likely diagnosis?

Answer 27

A common presentation in General Practice is a child complaining of pain in the legs with no obvious cause. Such presentations, in the absence of any worrying features, are often attributed to ‘growing pains’.

This is a misnomer as the pains are often not related to growth - the current term used in rheumatology is ‘benign idiopathic nocturnal limb pains of childhood’

Question 28

A 2-year-old boy is brought to the surgery by his mother with earache and pyrexia. On examination of the precordium a murmur is heard.

Which one of the characteristics is not consistent with an innocent murmur?

Answer 28

Diastolic Murmur

Question 29

Characteristics of an innocent ejection murmurs:

(8)

Answer 29

Characteristics of an innocent ejection murmur include:

• soft-blowing murmur in the pulmonary area or short buzzing murmur in the aortic area
• may vary with posture
• localised with no radiation
• no diastolic component
• no thrill
• no added sounds (e.g. clicks)
• asymptomatic child
• no other abnormality

Question 30

Still’s murmur

(2)

Answer 30

Low-pitched sound heard at the lower left sternal edge

Question 31

Venous hums (2)

Answer 31

Due to the turbulent blood flow in the great veins returning to the heart.

Heard as a continuous blowing noise heard just below the clavicles

Question 32

An 8-year-old boy is referred to the local asthma clinic due to poorly controlled symptoms.

Over the last month, the patient has been waking at night coughing and has been using their salbutamol inhaler at least 3 times a day.

They were started on this inhaler by their GP as a trial and got good relief after using it.

On examination, the patient is otherwise well and developing normally. Their past medical history includes eczema.

What is the next best management step for this patient?

Answer 32

Child aged 5-16 years with asthma not controlled by a SABA asthma management in children 5-16 - add a paediatric low-dose ICS

Beclometasone dipropionate

Question 33

To which category does

Beclometasone dipropionate

belong?

Answer 33

This medication belongs to a class of drugs known as corticosteroids.

Question 34

To which category does

monteleukast

belong?

Answer 34

Montelukast is in the leukotriene receptor antagonist family of medications.

It is generally less preferred for this use than inhaled corticosteroids.

It is not useful for acute asthma attacks.

Question 35

To which family of medications does Theophylline belong?

Answer 35

Theophylline, also known as 1,3-dimethylxanthine, is a phosphodiesterase inhibiting drug used in therapy for respiratory diseases such as chronic obstructive pulmonary disease and asthma

Question 36

A 7-year-old is referred to paediatric clinic by a GP as they are concerned about the presence of a murmur, heard incidentally.

The patient is otherwise asymptomatic and well.

After examination, the paediatrician is reassured and diagnoses a benign ejection systolic murmur.

Which of the following is a feature of a benign ejection systolic murmur?

Answer 36

A benign ejection systolic murmur varies with posture. All other answers are features of pathological murmurs. ‘Only mild symptoms’ is not a good thing - any symptom at all is a sign that the murmur is not benign.

Characteristics of an innocent ejection murmur include:

• soft-blowing murmur in the pulmonary area or short buzzing murmur in the aortic area
• may vary with posture
• localised with no radiation
• no diastolic component
• no thrill
• no added sounds (e.g. clicks)
• asymptomatic child
• no other abnormality

Question 37

At what age would the average child start to play alongside, but not interacting with, other children?

Answer 37

2 years

Question 38

Playing milestones

(4)

Answer 38

Question 39

Feeding Milestones

(5)

Answer 39

Question 40

Dressing milestones (4)

Answer 40

Question 41

A 3-year-old is brought by his Mum to your surgery. He has had a fever and has been refusing to eat. Mum has noticed some spots on his hands and buttocks. On examination, the child has a mild vesicular rash on the hands, buttocks, face and a few spots on his ankles. His temperature is 38.1ºC. Your records state that he had chicken pox when he was 9 months old. What is the most likely diagnosis?

Answer 41

Hand, foot and mouth disease is a viral infection that commonly affects children under 10 years. The symptoms are fever, anorexia, cough, abdominal pain and sore throat. Mouth ulcers commonly follow with a rash that classically affects hands and feet but also face, buttocks, legs and genitals. It is generally a benign self-resolving condition treated with simple analgesia.

Question 42

A 16-year-old girl is seen by the GP as she has never menstruated. She also has not developed other secondary sexual characteristics.

On examination, she is very short but is in proportion. She also has wide-spaced nipples and low-set ears. There is a very subtle webbing of the neck.

Which of the following is she most likely to have?

Answer 42

Turner’s syndrome is associated with aortic coarctation

Question 43

A baby is born at full term following a vaginal delivery complicated by a shoulder dystocia. The baby is born in very poor condition and accordingly, the neonatal team resuscitate and intubate the baby. The baby is profoundly acidotic and demonstrates global hypotonia with abnormal neonatal reflexes; the neonatal team decide on the most appropriate step in management as they are concerned about hypoxic brain injury.

Which intervention is most important for this baby?

Answer 43

Therapeutic cooling at 33-35 degrees attempts to reduce the chances of severe brain damage in neonates with hypoxic injury

Question 44

What is given at birth to prevent haemorrhagic disease of newborns?

Answer 44

All babies should receive vitamin K at birth to prevent haemorrhagic disease of the newborn

Question 45

You are the FY1 on a paediatric ward, one of your patients is a 14-year-old female with anorexia. She is currently refusing to be tube fed. You assess her capacity and deem that she has the capacity to refuse. However, neither of her parents agree with her decision.

What do you do?

Answer 45

Inform her that as she is under 16 she cannot refuse treatment

The family law reform act of 1969 states that ‘those over 16 can consent to treatment, but cannot refuse treatment under 18 unless there is one consenting parent, even if the other disagrees’.

Question 46

What is the causative agent of roseola infantum?

Answer 46

Roseola infantum (also known as exanthem subitum, occasionally sixth disease) is a common disease of infancy caused by the human herpes virus 6 (HHV6). It has an incubation period of 5-15 days and typically affects children aged 6 months to 2 years

Question 47

You are called to assess a 1-day old infant in the maternity ward born at full term by uncomplicated vaginal delivery. The mother has expressed some concern that the baby’s mouth is going blue along with episodes of crying and deep and rapid breathing. Other than these episodes, the baby appears well and comfortable. You arrive to find the baby settled on the ward with no cyanosis of the mucosa. On examination, respiratory rate is 40 per minute and pulse oximetry is 90%. On palpation, there is a right parasternal heave, and on auscultation, There is a normal S1 and S2 and an ejection systolic murmur is heard over the left upper sternal border.

Which of the following cardiac conditions is this child likely to be suffering from?

Answer 47

Tetralogy of Fallot: Cyanosis or collapse in first month of life, hypercyanotic spells. Ejection systolic murmur at left sternal edge

Question 48

Other features of tetralogy of fallot (5)

Answer 48

• cyanosis

unrepaired TOF infants may develop episodic hypercyanotic ‘tet’ spells due to near occlusion of the right ventricular outflow tract

features of tet spells include tachypnoea and severe cyanosis that may occasionally result in loss of consciousness

they typically occur when an infant is upset, is in pain or has a fever

• causes a right-to-left shunt
• ejection systolic murmur due to pulmonary stenosis (the VSD doesn’t usually cause a murmur)
• a right-sided aortic arch is seen in 25% of patients
• chest x-ray shows a ‘boot-shaped’ heart, ECG shows right ventricular hypertrophy

Question 49

What are Fallot’s tetralogy (4)

Answer 49

The four characteristic features are:

• ventricular septal defect (VSD)
• right ventricular hypertrophy
• right ventricular outflow tract obstruction, pulmonary stenosis
• overriding aorta

Question 50

A 16-month-old girl is reviewed by her GP.

She has a 3 day history of fever and coryzal symptoms.

Overnight she has developed a harsh cough. On examination she has a temperature of 38ºC and inspiratory stridor is noticed although there are no signs of intercostal recession.

What is the most likely diagnosis?

Answer 50

Croup

Question 51

Management of croup (2)

Answer 51

Management

CKS recommend giving a single dose of oral dexamethasone (0.15mg/kg) to all children regardless of severity

prednisolone is an alternative if dexamethasone is not available

Emergency treatment

high-flow oxygen

nebulised adrenaline

Question 52

An obese 12-year-old boy presents with knee pain. On examination he has pain on internal rotation of the hip.

His knee is clinically normal.

What is the most appropriate investigation?

What is the most likely diagnosis?

Answer 52

The main differential diagnosis in a boy over 10 years old is of slipped upper femoral epiphysis.

Knee pain is a common presenting feature. An anteroposterior pelvic x-ray may miss a minor slip, therefore request a hip film.

Question 53

A baby is delivered in the breech position. Barlows and Ortolani tests are normal

What is the most appropriate investigation?

What is the most likely diagnosis?

Answer 53

The correct answer is: Ultrasound hip

This child is at risk of developmental dysplasia of the hip (up to 20% will have DDH), so should have the hip joints scanned to exclude this.

Question 54

A 5-year-old boy presents with a painful limp. The symptoms have been present for 8 weeks. Two hip x-rays have been performed and appear normal.

What is the most appropriate investigation?

What is the most likely diagnosis?

Answer 54

The correct answer is: MRI scan

Perthes’ disease should be suspected in boys over 4 years old presenting with a limp. Early disease can be missed on x-ray. MRI is increasingly replacing bone scans as the second line investigation of choice

Question 55

Developmental dysplasia of the hip treatment

(3)

Answer 55

Splints and harnesses or traction.

In later years osteotomy and hip realignment procedures may be needed.

In arthritis a joint replacement may be needed.

However, this is best deferred if possible as it will almost certainly require revision

Question 56

Developmental dysplasia of the hip radiological findings

(2)

Answer 56

• Initially no obvious change on plain films and USS gives best resolution until 3 months of age.
• On plain films Shentons line should form a smooth arc

Question 57

Perthes Disease radiological findings

(2)

Answer 57

X-rays will show flattened femoral head.

Eventually in untreated cases the femoral head will fragment.

Question 58

Treatment of perthe’s disease

(2)

Answer 58

• Remove pressure from joint to allow normal development. Physiotherapy.
• Usually self-limiting if diagnosed and treated promptly.

Question 59

Presenting features of Perthe’s disease

(3)

Answer 59

Hip pain (may be referred to the knee) usually occurring between 5 and 12 years of age.

Bilateral disease in 20%.

Question 60

Radiological presentation of Slipped upper femoral epiphysis

(2)

Answer 60

• X-rays will show the femoral head displaced and falling inferolaterally (like a melting ice cream cone)
• The Southwick angle gives indication of disease severity

Question 61

Slipped upper femoral epiphysis treatment

(2)

Answer 61

Bed rest and non-weight bearing. Aim to avoid avascular necrosis.

If severe slippage or risk of it occurring then percutaneous pinning of the hip may be required.

Question 62

Presenting features of Slipped upper femoral epiphysis

(4)

Answer 62

Typically seen in obese male adolescents. Pain is often referred to the knee.

Limitation to internal rotation is usually seen.

Knee pain is usually present 2 months prior to hip slipping.

Bilateral in 20%.

Question 63

A 7-day-old baby is brought to see you with difficulty in feeding over the past 24 hours. He was born at 37 weeks, induced 24 hours after pre-labour spontaneous rupture of membranes. After a period of observation, there were no concerns and were subsequently discharged.

He is exclusively breastfed 1-2 hourly, however of the past 24 hours, has been less interested in feeding, occurring every 3-4 hours, sometimes being woken to feed. He seems uncomfortable when feeding, continually pulling away. Mum also states that he seems to be making an unusual grunting sound after he exhales.

Based on this history, what would be the most likely diagnosis and why?

(4)

Answer 63

This baby is not well, the reduced feeding (<50% usual amount) and evident grunting are features of serious illness.

Neonatal sepsis should be considered in infants with vague signs such as poor feeding, grunting, lethargy

Neonatal sepsis is the most likely diagnosis here due to the prolonged rupture of membranes followed by symptoms that can be attributable to neonatal sepsis which is often vague such as lethargy and poor feeding.

Grunting however is also a definite red flag features of serious illness and neonatal sepsis in this context.

Question 64

A 7-year-old girl is brought in to see her GP by her mother, who states that she has had a sore throat and developed a skin eruption for the last couple of days.

On examination, you note 3-4 mm erythematous macules and papules on the dorsum of her hands and her heels.

You diagnose her with hand, foot and mouth disease.

The mother asks if she needs to stay off school.

What advice will you give her regarding school exclusion?

Answer 64

Hand foot and mouth disease does not require exclusion from a childcare setting or school

Question 65

A 6-week old baby presents with profuse vomiting and constipation.

The mother states he has vomited on multiple occasions but generally, he has been happy feeding.

The baby looks visibly dehydrated.

On examination, there is a small mass located in the abdominal region. An arterial blood gas was performed.

Which blood gas picture would you expect?

What is the most likely diagnosis?

Answer 65

Pyloric stenosis classically leads to

hypochloraemic, hypokalaemic alkalosis

Question 66

Pyloric stenosis presenting features (4)

Answer 66

Features

• ‘projectile’ vomiting, typically 30 minutes after a feed
• constipation and dehydration may also be present
• a palpable mass may be present in the upper abdomen
• hypochloraemic, hypokalaemic alkalosis due to persistent vomiting

Question 67

What is the treatment of pyloric stenosis?

What is the diagnostic technique?

Answer 67

Diagnosis is most commonly made by ultrasound.

Management is with Ramstedt pyloromyotomy.

Question 68

A boy, born at term, via cesarean section is under cardiology review after he was found to have a pansystolic murmur. Cardiology reports a ventricular septal defect (VSD). His mother becomes very anxious when she finds out and is keen to find out more about VSD. She asks about the risks to her son.

What is he at a high risk of?

Answer 68

VSD increases risk of endocarditis

Patients with VSD are at a high risk of endocarditis.

Occurs at a rate of 2.4 cases per 1000 patients per year

Question 69

You see a 30-year-old lady for a postnatal check following an emergency caesarian section 8 weeks ago. She also has her baby booked in for his first set of routine immunisations today.

She asks about the new Meningococcus B (MenB) vaccination and wants to know when it is given.

When is the routine MenB vaccine given?

Answer 69

The Men B vaccine is given at 2, 4 and 12-13 months.

Question 70

A 3-year-old girl presents to the emergency department with lethargy, cough and breathlessness for the last 2 weeks.

The mother tells you that the cough has been getting worse, but it is not productive of sputum.

Her observations show fever, tachycardia and tachypnoea.

Based on her age and the worsening of the cough, you suspect that the infecting organism is Mycoplasma pneumonia.

Chest x-ray shows right lower zone consolidation.

What is the most appropriate oral therapy?

Answer 70

A macrolide e.g. erythromicin should be used for children with pneumonia if mycoplasma is suspected

Question 71

A 2-year-old boy presents to the GP with his mother. She is worried that he is not growing at the same rate as the other children at his play group. His mother describes foul-smelling diarrhoea about 4-5 times a week, accompanied by abdominal pain.

On examination, he has a bloated abdomen and wasted buttocks. He has dropped 2 centile lines and now falls on the 10th centile.

Which investigation is most likely to reveal the diagnosis?

Answer 71

The most likely diagnosis here is coeliac disease, diagnosed using IgA TTG antibodies

• jejunal biopsy showing subtotal villous atrophy
• anti-endomysial and anti-gliadin antibodies are useful screening tests

Question 72

You are asked to complete a neonatal check for a 40-week gestation baby, born to South Asian parents.

They are planning a trip to Bangladesh in the next 4 months to see relatives.

Beyond the recommended routine vaccinations on the immunisation schedule for all children in the UK, are there any additional vaccines you would recommend for their baby?

Answer 72

BCG vaccination against TB should be offered to babies with family history of TB or from high risk region/country with TB (defined as >40 cases/100000) as defined by WHO

Question 73

You see a 6 week-old baby boy for his routine baby check.

His mother has a past medical history of asthma and used inhaled steroids during pregnancy.

He was delivered by planned Caesarian at 39 weeks due to breech presentation.

His birthweight was 3.1kg.

Which conditions is he at increased risk of?

Answer 73

Developmental dysplasia of the hip

Question 74

What is torticollis?

Answer 74

Torticollis, also known as wryneck, is a twisting of the neck that causes the head to rotate and tilt at an odd angle.

Question 75

What is congenital talipes calcaneovalgus?

Answer 75

Calcaneovalgus foot is one of the most common deformities of the foot seen in newborns. Babies with this condition are born with their foot and ankle excessively bent up, where the toes are usually touching the shin.

Question 76

A pregnant woman undergoes routine screening blood tests and is found to have an elevated alpha-foetoprotein level.

This prompts investigation with ultrasound scanning.

The scan reveals an anterior abdominal wall defect with a mass protruding through, which appears to still be covered with an amniotic sac.

Given the likely diagnosis, what would be the normal management for this condition?

(4)

Answer 76

Caesarian section and staged repair

The likely diagnosis here is that of exomphalos (omphalocoele).

Alpha-foetoprotein may be elevated with abdominal wall defects. The correct option is caesarian section with staged repair - this would be the normal management as caesarian reduces the risk of sac rupture, and surgery is non-urgent.

If an unborn has exomphalos then caesarean section is indicated to reduce the risk of sac rupture

Question 77

What is exomphalos?

Answer 77

Exomphalos is an abdominal wall (tummy wall) defect.

It happens when a baby’s abdominal wall does not develop fully while in the womb.

Question 78

What is gastroschisis?

How is is managed?

Answer 78

Gastroschisis is a birth defect of the abdominal (belly) wall. The baby’s intestines are found outside of the baby’s body, exiting through a hole beside the belly button. The hole can be small or large and sometimes other organs, such as the stomach and liver, can also be found outside of the baby’s body.

Vaginal delivery with immediate repair would be indicated for gastroschisis, rather than exomphalos - given the defect and lack of a sac for protection, immediate surgery is required as this is an emergency.

Question 79

A 1-month-old baby, born at 39 weeks, presents with being increasingly unsettled around 30-60minutes after feeds, with frequent regurgitation, ‘colic’ episodes and non-bloody diarrhoea. There is no history of fever, urticaria, angioedema or wheeze. He is exclusively formula-fed.

The examination is unremarkable aside from some mild eczema in his flexural areas. His weight remains stable between the 50-75th centile.

What is the most appropriate next management step for this child?

Answer 79

If a formula-fed baby is suspected of having mild-moderate cow’s milk protein intolerance then a extensive hydrolysed formula should be tried

Question 80

What is the average age at which a child attains the ability to ask ‘what’ and ‘who’ questions?

Answer 80

3 years

Question 81

What is the average age at which a child attains the ability to combine two words?

Answer 81

two years

Question 82

What is the average age at which a child attains the ability to ask ‘why’, ‘when’ and ‘how’ questions?

Answer 82

4 years

Question 83

A 12-month-old child is brought into surgery for her next routine immunisations. She has received all the recommended immunisations to date.

What should be given at this stage?

(4)

Answer 83

12-13 months immunisations:

Hib/Men C + MMR + PCV + Men B

Question 84

A 7-year-old boy attends the GP surgery with abdominal pain for 4 days. He is eating and drinking normally, has no urinary symptoms and no change in bowel habit. He had experienced some cold symptoms 1 week ago, but these have subsided. Aside from this episode, he is generally a well and happy child.

On examination, the abdomen is soft but mildly tender throughout. Temperature is 37.7 degrees. His chest is clear and heart sounds are normal.

What is the most likely cause of this boy’s abdominal pain?

Answer 84

Mesenteric adenitis describes inflamed mesenteric lymph nodes. It is often preceeded by a viral infection. It is self limiting

This child has had what was a likely viral illness in the past week and is now suffering with abdominal pain.

He is eating and drinking normally, unlikely in appendicitis.
He is passing normal stools, unlikely in constipation.
He is not vomiting, unlikely in gastroenteritis.

Abdominal migraine is rare and is less likely than mesenteric adenitis in this scenario.

Question 85

What is Mesenteric adenitis?

Answer 85

• Mesenteric adenitis is inflamed lymph nodes within the mesentery.
• It can cause similar symptoms to appendicitis and can be difficult to distinguish between the two.
• It often follows a recent viral infection and needs no treatment

Question 86

Precocious puberty in females may be defined as the development of secondary sexual characteristics before:

Answer 86

8 years of age

Question 87

Define the terms:

thelarche

adrenarche

Answer 87

thelarche (the first stage of breast development)

adrenarche (the first stage of pubic hair development)

Question 88

What are the two types of precocious puberty?

Answer 88

1. Gonadotrophin dependent (‘central’, ‘true’)

• due to premature activation of the hypothalamic-pituitary-gonadal axis
• FSH & LH raised

2. Gonadotrophin independent (‘pseudo’, ‘false’)

• due to excess sex hormones
• FSH & LH low

Question 89

Organic causes of precocious puberty

(2)

Answer 89

Organic causes

• are rare, associated with rapid onset, neurological symptoms and signs and dissonance
• e.g. McCune Albright syndrome

Question 90

A 2-year-old boy presents with chronic constipation. Shortly following birth he was diagnosed with an underlying genetic disorder. He had delayed passage of meconium as a neonate. He is referred to paediatric surgery and a rectal biopsy is performed.

What is the most likely diagnosis?

Which genetic condition is most associated with the development of this disease?

Answer 90

Hirschsprung’s disease is a congenital condition where there a section of the bowel has an abnormal nervous supply, reducing the normal peristaltic motion of the bowel.

This typically results in delayed passage of meconium and chronic constipation in childhood.

Of the answers provided, Down’s syndrome (trisomy 21) is the only genetic condition associated with the development of Hirschsprung’s disease.

Question 91

What is Cri du chat syndrome?

How does Cri du chat syndrome typically present?

Answer 91

Cri du chat syndrome is caused by a chromosome 5q deletion

typically presents with a high-pitched cry in infancy.

Question 92

What causes Edward’s syndrome?

How does Edward’s usually present?

Answer 92

Edward’s syndrome is caused by trisomy 18.

Typical presenting features include a small jaw, low-set ears, rocker-bottom feet and overlapping fingers.

Question 93

What is the cause of Fragile X syndrome? (2)

What is the typical presentation of Fragile X syndrome? (5)

Answer 93

Fragile-X syndrome is caused by a trinucleotide repeat expansion and is inherited in an X-linked dominant fashion.

Typical presenting features include mild-moderate learning difficulty, a long and narrow face, large ears, flexible fingers and large testicles.

Question 94

What is the inheritance of Noonan syndrome? (2)

What are the presenting features of Noonan syndrome? (4)

Answer 94

Noonan syndrome is inherited in an autosomal dominant fashion in the majority of cases.

Typical presenting features include a webbed neck, pectus excavatum, short stature and pulmonary stenosis.

Question 95

What is the genotype of Patau’s syndrome? (1)

What is the typical presentation of Patau’s? (5)

Answer 95

Patau’s syndrome (trisomy 13)

Typically associated with microcephaly, small eyes, cleft lip/palate, polydactyly and scalp lesions.

Question 96

What are the features of Pierre-Robin syndrome? (3)

What conditions are thought to cause of Pierre-Robin syndrome? (3)

Answer 96

Pierre-Robin syndrome is typically characterised by a cleft palate, posterior displacement of the tongue and a small jaw.

The underlying cause of this syndrome remains poorly defined, although oligohydramnios, connective tissue disorder and genetic defects have been postulated.

Question 97

What is the genotype of Turner’s syndrome?

What is the phenotype of Turner’s syndrome?

Which other genetic syndrome is Turner’s syndrome similar to?

Which heart conditions are associated with Turner’s syndrome? (2)

What are the typical presenting features of Turner’s syndrome?

Answer 97

Turner’s syndrome is caused by the presence of only one X chromosome, resulting in a 45,X0 genotype.

Patients are genetically and phenotypically female.

Turner’s presents with multiple overlapping features with Noonan syndrome

Turners is more associated with bicuspid aortic valve and coarctation of the aorta while Noonan’s presents with pulmonary stenosis.

Typical presenting features include a webbed neck, pectus excavatum, short stature.

Question 98

What is the cause of William’s syndrome?

What is the typical clinical presentation of William’s syndrome? (2)

Answer 98

William’s syndrome is most commonly caused by a random genetic deletion on chromosome 7.

Typical features include mild to moderate learning difficulty and a friendly, extroverted personality.

Question 99

You review a 9-year-old boy in your clinic and on examination you notice he has a webbed neck, widely-spaced nipples, short stature and pectus carinatum. When you auscultate his heart you hear a mid-systolic murmur loudest in the pulmonary region.

What is the most likely underlying diagnosis?

Answer 99

Noonan’s syndrome

mid-systolic murmur suggests pulmonary stenosis

Question 100

A 10-year-old boy presents to your clinic. He has learning difficulties, large low set eats, a long thin face, large testicles and a high arched palate.

What is the most likely diagnosis?

Answer 100

Fragile X syndrome

Question 101

Osgood-Schlatter disease presents with which pattern of pain?

(3)

Answer 101

Typically, pain is:

• Unilateral (but may be bilateral in up to 30% of people).
• Gradual in onset and initially mild and intermittent, but may progress to become severe and continuous.
• Relieved by rest and made worse by kneeling and activity, such as running or jumping.

Question 102

Features of Osgood-Schlatter disease

(3)

Answer 102

(tibial apophysitis)

Seen in sporty teenagers

Pain, tenderness and swelling over the tibial tubercle

Question 103

Define Apophysitis

(3)

Answer 103

Apophysitis is an overuse injury that typically occurs after repetitive activities of the muscles attached to the apophysis.

Typically seen in sporty teenagers

Osgood-Schlatter disease
(tibial apophysitis)

Question 104

What are the key features of Osteochondritis dissecans?

Answer 104

Pain after exercise

Intermittent swelling and locking

Question 105

What are the key features of Chondromalacia patellar?

(4)

Answer 105

Softening of the cartilage of the patella

Common in teenage girls

Characteristically anterior knee pain on walking up and down stairs and rising from prolonged sitting

Usually responds to physiotherapy

Question 106

What are the key features of patellar subluxation?

(3)

Answer 106

A patellar subluxation means that the kneecap has briefly slid out of its normal place in that groove.

Medial knee pain due to lateral subluxation of the patella

Knee may give way

Question 107

What are the key features of Patellar tendonitis?

Answer 107

Patellar tendinopathy is a condition that can happen when the tendon that joins your kneecap (patella) to your shin bone (tibia) gradually wears down.

• More common in athletic teenage boys
• Chronic anterior knee pain that worsens after running
• Tender below the patella on examination