DiGeorge syndrome is a deletion of chromosome 22q11.2. It causes absent thymus, fits, small parathyroids (thus decreased Ca2+), anaemia, lymphopenia, low levels of growth hormone, and low T-cell immunity. It is related to the velocardiofacial syndrome: characteristic face, multiple anomalies, eg cleft palate, heart defects, cognitive defects Developmental delay, facial dysmorphism, palatal dysfunction, and feeding difficulties are seen in most infants with this syndrome.

The facial dysmorphism is typically mild but fairly typical. These include hypertelorism, hooded eyelids, tubular nose, broad nose tip, small mount, and mild ear abnormalities.

The most important factor to memorize here is the absent thymic shadow which is pathognomic for DiGeorge syndrome.

Mnemonic: CATCH-22

• Cardiac abnormality (commonly interrupted aortic arch, truncus arteriosus, and tetralogy of Fallot)

• Abnormal facies

• Thymic aplasia

• Cleft palate

• Hypocalcaemia / Hypoparathyroidism

• With the 22 to remind one the chromosomal abnormality is found on the 22 chromosome.

All the above tests are appropriate but the number one test to do if you had to choose would be to perform a full blood count and blood film to look for evidence of haematological malignancies such as leukaemia or lymphoma. A lymph node that is increasing in size and larger than 2 cm should be a worry.

There are many causes of lymphadenopathy in children which include CMV, EBV, Kawasaki disease, and tuberculosis but the one diagnosis that you do not want to miss is haematological malignancies.

An ultrasound of the lymph node is appropriate since it persists beyond 16 weeks, isolated, larger than 2 cm, and increasing in size. However, it would not be the initial test to perform.

This is a frequent paediatric topic on exam. This is a case of non-accidental injury. Having a non-biological father in the picture is always a hint of non accidental injury in exam.

Non accidental injury Presentation:

Delayed admission into hospital or clinic by carer

Child usually brought in by step-father or boyfriend

Bruising of varying degrees, color variations (means long-term abuse) 

Fractures

Diagnosis: Mostly clinical history

Treatment:

- Admit to ward and manage pain

- Refer to social services

- Treat any other underlying medical conditions.

The likely diagnosis here is obstructive sleep apnoea syndrome. Referrals are usually to paediatric physicians, although sometimes paediatric neurologists, respiratory doctors, or ENT consultants may have a specialist interest.

Obstructive Sleep Apnoea Syndrome in Children is mainly due to enlarged tonsils and adenoids.

Presentation :

- Snoring ; usually parents seek attention; many will just get better as they grow older

- Mouth breathing - Witnessed apnoeic episodes

- Daytime sleepiness and somnolence are common in childhood OSAS, in contrast with adults who often fall asleep during the day

- Sleep deprived children tend to become hyperactive, with reduced attention spans, and be labeled as difficult or disruptive, or even ADHD.

They may not be doing well at school due to poor concentration

Investigations:

- Overnight in-laboratory polysomnography (PSG) continues to be the gold standard instrument

* During sleep studies the following are usually monitored:

Oxygen saturation and heart rate.

Airflow at nose or mouth.  

Chest and abdominal movements.

ECG, electroencephalogram, electromyogram, and sometimes electrooculogram (eye movements).

This is a classic presentation of pyloric stenosis. As the child is vomiting profusely, there will be an electrolyte imbalance. Hypokalaemia may be present and therefore needs to be corrected immediately. In reality, one would take blood for serum potassium levels and arrange an abdominal ultrasound while waiting for the serum potassium results. However, the exam writers want you to think about which is the most important given the stem.

Pay attention to the final line of the question.

If the question is asking for the NEXT STEP of action, serum potassium levels would be appropriate.

If the question is asking for the NEXT STEP TO DIAGNOSE the condition, then an abdominal ultrasound would be the answer. Intravenous fluid should follow after taking blood.

Presentation:

- Projectile non-bilious vomiting

- Age group: 3-8 weeks

- Olive-sized abdominal mass

- The child will feel hungry and want to feed despite constant vomiting

Diagnosis:

- Abdominal ultrasound

Treatment:

- Metabolic alkalosis : correct electrolyte imbalance + hydration

- Then referral to paediatric surgery (pyloromyotomy) + nasogastric tube.

The most worrisome and likely diagnosis here is acute epiglottitis. The fact that she is not immunized and has a high temperature along with difficulty swallowing gives the likelihood of this being acute epiglottitis. If the question was asking for management, summon the most experienced anaesthetist to intubate before obstruction occurs.

Acute epiglottitis :

- Now rare due to the introduction of the Hib vaccine. However, it is still a serious infection. Prompt recognition and urgent treatment are essential.

- Caused by Haemophilus influenzae type B

Features :

- Rapid onset - High temperature

- Stridor

- Drooling of saliva

- Difficulty speaking

- Muffling or changes in the voice.

When you see a sudden onset of green, bilious vomiting and blood per rectum in neonates for the exam, think of malrotation with volvulus. EXAM may have an abdominal x-ray result as a “double bubble sign”. Pyloric stenosis in exam would have projectile vomiting as a key feature and the age would be older than 3 weeks.

Intussusception is uncommon in neonates and would most likely occur in infants 6 months or older.

Note that it may be possible in EXAM for them to show an x-ray for case stems so instead of having a description of the result you may need to interpret the radiology yourself.

Malrotation and volvulus presentation:

- Green, bilious vomiting

- Blood per rectum - Sudden onset

- Age: neonates

Diagnosis:

- Abdominal x-ray

- Barium enema

Treatment: ABCDE protocol

- Decompression with nasogastric tube & Referral to paediatric surgery for laparotomy and resection.

Only around 12 months does the child say his/her first words. E.g. “mama” Smiling, laughing, and being not shy is normal for her age group.

Only around 7 to 8 months do babies sit unsupported. Refer if by 12 months if unable to sit unsupported. Holding using her palms at her age group is normal.

Developmental milestones are a commonly asked question in. Try to memorize some basic ones.

PAEDIATRIC DEVELOPMENTAL MILESTONES :

6 weeks - Good head control, Fixes and follows face, Still in response to sound, Smiles

3 months - Neck holding, Hands open half the time, Startle at loud noise, cooing, Recognizes mother.

6 months - Rolls over, Transfers hand-to-hand, Monosyllabic (mostly babbles), Knows familiar directions (supine to prone) 

9 months - Gross motor- Crawling, sit with support, pulls to stand. Fine motor - Pincer grasp, Language - Bi-syllabic (“Mama”, “bye bye”), Social - Stranger fear, holds/bites food.

1 Year - Gross motor -Walks independently, Fine motor - Stacks two blocks, Throws objects Language - Two words with meaning,  Social - Wave, clapping.

2 years - Gross motor - Running, up and down steps holding on, kicks ball, Fine motor - Stacks four blocks, makes or copies straight lines, Language - Simple sentences (with 2 to 4 words), Social - Copies others.

3 years -  Gross motor - Tricycle, walks up and down stairs, one foot on each step, Fine motor - Stacks eight blocks, makes or copies circles, Language - Can tell name, age, gender, Social - Dresses and undresses self.

4 years - Gross motor - Hops, jumps, walks, Fine motor - Stacks twelve blocks, Language - Tell Stories, poems, Social - Cooperates with other children.

5 years - Gross motor - Skips (both legs above ground), Fine motor - Can draw a person with at least 6 body parts, copies a triangle and other geometric shapes Language - Understands complex instructions, Social - Wants to please friends.

Here are some ways to memorise this table. This figure is intersected at 4 different levels of the body which represent different time frames.

• 3 months – Neck – Holds neck • 6 months – Body – Rolls both directions

• 9 months – Knees – Crawling

• 12 months – Feet – Walks

For fine motor skills :

• At 2 years – Draws a line

• At 3 years – Draws a circle

• At 4 years – Draws a cross and square

• At 5 years – Draws a triangle

Below are certain negative indicators (things a child cannot do) by a certain age that you should recognise and refer to a specialist community paediatric assessment:

• Unable to sit unsupported at 12 months of age

• Unable to walk by 18 months of age

• No speech at 18 months of age

• Unable to run by 2.5 years of age

• Unable to hold objects placed in hand by 5 months of age

• Unable to reach for objects by 6 months of age 

There is frequently a history of multiple bony fractures with no history of trauma. Scenes like this may occur which may lead you to think of non-accidental injuries (e.g. child abuse). But in this case, the cause of the fractures is not child abuse. It is osteogenesis imperfecta (OI). Osteogenesis imperfecta is an inherited disorder of type I collagen that results in fragile, low-density bones.

The bones break easily often from little or no apparent cause.

A person with osteogenesis imperfecta may sustain just a few or as many as several hundred fractures in a lifetime.

Stem may give a scenario like the above but they will have to give some other sign that it is not a non-accidental injury. In this case, they gave the sign of blue sclerae and hearing loss which is found in osteogenesis imperfecta.

Stem clues for Wilson’s disease: there will be behavioral changes, liver dysfunction, and Kayser-Fleischer rings.

Option C, while similar to Wilson’s, does not exhibit neurological or behavioral changes. Hereditary haemochromatosis is iron overload and also does not exhibit the neurological or behavioral changes typically found in Wilson’s.

Wilson’s Disease presentation:

- Kayser-Fleischer rings

- Liver dysfunction - deranged liver function tests, cirrhosis

- Neurological - ataxia, dysarthria, dystonia

- Behavioural personality changes, decreased school performance

Diagnosis:

- Wilson’s disease scoring system : score > 4

- Serum ceruloplasmin - initial

- Measurement of hepatic parenchymal copper concentration

- Definitive Treatment:  Choice of D-penicillamine; trientine; ammonium tetrathiomolybdate

- Neurological involvement - zinc

- First line - Acute liver failure/cirrhosis

- Liver transplant - definitive treatment.

The likely diagnosis here is a non-accidental injury.

Bruising in unusual sites (eg medial aspect of upper arms or thighs) should prompt consideration of non accidental injury.

The child needs to be admitted for further investigation and also to prevent further injury from the mother’s partner.

Non accidental injury

Presentation:

- Delayed admission into hospital or clinic by carer

- Child usually brought in by step-father or boyfriend

- Bruising of varying degrees, color variations (means long-term abuse)

- Fractures

Diagnosis:

- Mostly clinical history

Treatment:

- Admit to ward and manage pain

- Refer to social services

- Treat any other underlying medical conditions.

For the exam, it is important to memorize the development milestones. The questions that come up for development are similar to the ones above. A scenario is presented where the mom is concerned and you would be told to give the best advice / management. You must answer accordingly depending on the scenario.

This child is clearly showing indications of developmental delay and therefore requires assessment. Infants are usually able to sit without support at 7-8 months.

At 12 months, if they are unable to do this, we should assess and refer.

At 12 months, he should be able to walk with support. A concern would be if he is unable to stand holding on by 12 months.

This is a diagnosis of tricyclic antidepressant (TCA) overdose. This topic overlaps with toxicity and emergency medicine.

This is a typical exam stem: there is a child who accidentally ingests an unknown bottle of medications.

For TCA overdose, look for widened QRS, peaked T waves, and hyperkalemia as main clues.

Note that in young children (< 5 years) the symptoms would usually be drowsiness, lethargy, and in this stem indications of seizure. In adolescents and adults, you would see more predominant signs of hypertension turning into hypotension and ventricular dysrhythmias along with the widened QRS clue.

Tricyclic antidepressant overdose -

Presentation:

- Child ingesting an unknown bottle of medication

- Lethargy, drowsy - +/- Coma or seizure

- ECG

- Widened QRS, peaked T waves (indications of hyperkalemia)

Diagnosis:

- Urea, electrolytes, toxicology screen - ECG

- Arterial blood gas

Treatment: ABCDE protocol

- If within 1 hr of ingestion and > 4mg/kg

- Activated charcoal - Sodium bicarbonate

- Correct electrolytes if necessary.

TRICYCLIC ANTIDEPRESSANT (TCA) OVERDOSE :

Tricyclic antidepressant (TCA) overdose should always be considered potentially life-threatening. They can deteriorate very rapidly sometimes within 1 hour of ingestion.

Clinical features :

• Dilated pupils

• Dry mouth

• Dry flushed skin

• Urinary retention

• Drowsiness and altered mental state leading to coma

• Hypotension ECG monitoring for TCA overdose is essential.

The important ECG finding suggestive of TCA poisoning is QRS widening (> 100 ms). Broad complex tachycardias may occur which are life-threatening.

Two popular stems in the exam where the answer is likely to be TCA overdose is the young child that takes his/her grandparents’ medication and later becomes drowsy and lethargic.

Another is an elderly person who has a terminal illness and wants to take his/her own life and who comes into the ED having dry and flushed pupils dilated. TCA’s are a prescription-only medication so you should think about how the person in the stem obtained the medication before you choose an answer.

Prader Willi syndrome is a result of chromosomal abnormality in chromosome 15 on the paternal side. The key clue is behavioral problems and uncontrolled feeding habits.

There may sometimes be clues in the stem stating the child has “blue eyes and blonde hair”.

Presentation:

- Male with blonde hair, and blue eyes

- Behavioral problems

- If uncontrolled feeding + obesity, the boy usually < 6 years old

- Developmental delay

Diagnosis :

- Chromosomal analysis: abnormality of paternal chromosome 15

- Mostly clinical diagnosis

Treatment:

Referral to paediatric psychiatry for behavioral problems and developmental delay.

Bronchiolitis is very common in infants and young children. Their early symptoms are those of a viral upper respiratory tract infection including mild rhinorrhoea, cough, and fever. The fever is usually high (above 39°C) however in this stem a temperature of 37.9°C is given. Do not let that fool you into thinking that it is not an infective cause.

Other symptoms of bronchiolitis include wheeze. Occasionally, one may find symptoms of cyanosis and poor feeding in the stem.

Bronchiolitis - An acute infectious disease of the lower respiratory tract that occurs primarily in the very young, most commonly infants between 2 and 6 months old

- Respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases It is a clinical diagnosis based upon:

- Breathing difficulties - Cough - Coryzal symptoms (including mild fever)

- Decreased feeding

- Apnoeas in the very young

- Wheeze or fine inspiratory crackles on auscultation

Management :

- Largely supportive involving humidified oxygen.

Hypokalaemia and non-bilious vomiting should direct you toward pyloric stenosis as a diagnosis.

It is unlikely to be duodenal atresia as the newborn presents with bilious vomiting with every feed. In this question, the scenario was one of non-bilious vomiting.

Malrotation is manifested by bilious vomiting, crampy abdominal pain, abdominal distention, and the passage of blood and mucus in their stools. Again in this scenario, non-bilious vomiting was given.

Pyloric stenosis :

- Projectile non-bilious vomiting

- Age group: 3-8 weeks

- Olive-sized abdominal mass

- The child will feel hungry and want to feed despite constant vomiting

Diagnosis:

- Abdominal ultrasound

Treatment: - Metabolic alkalosis

Correct electrolyte imbalance + hydration, then referral to paediatric surgery (pyloromyotomy) + nasogastric tube.

Febrile seizures are common in children and usually occur in ages 6 months to 6 years. They occur in 3% of all children in this age group. Management for this patient would involve antipyretics.

FEBRILE SEIZURES :

Febrile seizures are epileptic seizures accompanied by fever in the absence of an intracranial infection.

Key points -

• Usually between 6 months to 6 years of age with a peak at 14-18 months

• Usually with a positive family history

• Temperature usually increases rapidly to > 39 C

• Typically a generalized tonic-clonic seizure is seen

• Must determine the cause of fever and rule out meningitis

Types :

• Simple febrile seizures are the most common type and are characterized by a single generalized seizure lasting less than 15 minutes.

• Complex febrile seizures include those that are focal, prolonged, or recurrent It is important to know the figures for febrile seizures as parents often ask questions like “Would this seizure happen again” and “Would this lead to epilepsy in the future.

 • About 1 in 3 would have further episodes of febrile seizures.

• About 1 in 3 who have further episodes would develop epilepsy (this means roughly about 10% of complex febrile seizures would develop epilepsy)

Treatment :

• Antipyretics to control the fever

• Seizures lasting more than 5 minutes should be managed with benzodiazepines (i.e. buccal midazolam).

The key word here is the alpha gliadin antibodies which are positive. This is a test for coeliac disease.

Coeliac disease: an example of malabsorption associated with exposure to gluten, rye, wheat, barley.

Malabsorption typically presents with diarrhoea, failure to thrive, and anaemia. As subclinical/latent forms exist, investigate any unexplained anaemia, fatigue, ‘irritable bowel’ symptoms, and diarrhoea. Patients mostly present between 6 months to 2 years of age but can occur at any age.

There may be a deceleration on the growth chart after introduction to gluten at weaning (4–6 months).

Diagnosis Immunology:

- Raised IgA anti-tissue transglutaminase (IgAtTG), anti-gliadin (IgA-AGA), and endomysial antibodies (EMA)

Biopsy: Confirm by finding villous atrophy on small bowel biopsy (gold standard).

Neonatal jaundice within the first 24 hours of life should ring alarm bells in your head. They would require urgent assessment within two hours according to NICE guidelines. Investigations such as transcutaneous bilirubin measurement, liver function test, full blood count, blood film, blood group, Coomb’s test, G6PD levels, and review for sepsis would be performed in the hospital.

Developmental milestones are frequently asked. In this stem, his developmental milestones are correct for his age. At a 12 month mark, they should be able to do the following:

Language and hearing :

• Says “dada”, and “mama” to parents

• Vocalises two or three other words with meaning

Gross motor skills :

• Sits well and for an identified period

• Can rise independently from the lying position to the sitting position

• Can cruise around furniture

• May be able to stand alone

Fine motor skills :

• Can pick up small objects

• Can bang two bricks together

Personal and social milestones :

• Stranger anxiety

• Can drink from a cup

Investigation is prompted in the following red-flag situations :

• No smile by 8 weeks

• Poor eye contact by 3 months

• No reaching by 5 months

• Not walking by 18 months

• No single words with meaning by 18 months

• No 2-3 word sentences by 30 months.

The diagnosis here is breath-holding spells. This usually occurs in young children when they are upset and can be precipitated by trauma or when separated from their parents. Anything which may upset a child including injury from falling down. These children stop breathing for some time, they may turn blue or have little jerks of the limbs.

After some time, they spontaneously start breathing. They become completely fine after an hour. Treatment is not necessary. Usually just reassure parents.

This is a diagnosis of gastro-oesophageal reflux disease (GORD). This is one of the most common causes of vomiting in infants. This is due to slower gastric emptying time, a weaker oesophageal sphincter, an inability to sit up, and an entirely liquid diet.

Episodes of gagging and regurgitation can occur throughout the day. While GORD can occur at any age, in paediatrics the case stem would usually have an infant < 1 year old. This is because, in the vast majority of cases (90%), reflux would be resolved by 1 year of age. If it still has not been resolved by 1 year, then there might be another pathology such as a hiatus hernia.

It is common for growth to plateau off if the infant has persistent GORD and it is one of the more worrying features which warrants treatments.

GASTRO-OESOPHAGEAL REFLUX DISEASE :

Presentation:

- Age group for  < 1 year

 - Excessive and frequent episodes of regurgitation / vomiting after feeds

- Difficult to feed - Failure to thrive

- Irritable and crying

Diagnosis:

- Upper GI study with contrast as per protocol only (do not offer routinely)

- First line is upper GI endoscopy with biopsy as per protocol only (do not offer routinely)

Treatment:

- If breast-feeding: Breast-feeding assessment

- If formula-fed: take feeding history increase feeding frequency and reduce the amount per feed thickened formula

- Only prescribed proton pump inhibitors (PPIs) or H2 receptor antagonists (H2RAs) and consider enteral feeding only if there is no improvement to the above.

For children older than 5 years of age, if rapid or short-term control of bedwetting is required (for example for sleepovers or school trips), offer treatment with desmopressin.

PRIMARY ENURESIS MANAGEMENT :

The management of bedwetting can be a little confusing as different sources and books would have slightly different answers.

The points on NICE CKS can be summarized below:

Primary bedwetting (without daytime symptoms) - Younger than 5 - reassurance.

Older than 5 years of age - If the bedwetting is infrequent (less than 2x a week) - reassurance.

- If long-term treatment is required- enuresis alarm (1st line) + reward system

- If short-term control of bedwetting is required (e.g. sleepovers) - Desmopressin

If treatment has not responded to at least two complete courses of treatment with either an alarm or desmopressin - Refer to secondary care

Primary bedwetting (with daytime symptoms) - Refer all children above 24 months with primary bedwetting and daytime symptoms to secondary care or an enuresis clinic for further investigations and assessment.

These symptoms that he is presenting are due to pancytopenia. The likely cause given the options and his age is acute lymphoblastic leukaemia (ALL) The commonest leukaemia in children is acute lymphoblastic leukaemia (ALL). One needs to be careful with picking AML or ALL as there are often questions with a very similar stem.

In reality, it is difficult to diagnose them clinically as well.

For the exam, if one sees a clinical picture of acute leukaemia in a very acute setting with bleeding from the gums, AML is likely to be the answer. On the other hand, if one sees a clinical picture of acute leukaemia but less acute and only with gum hypertrophy, ALL is likely to be the answer. - Can these differences be used in real life? Probably not!

This is a diagnosis of intussusception.

Note the clues: the infant is between 5-12 months, the child has been crying persistently (indication of abdominal pain), drawing the legs up to the chest, currant jelly blood in stool, and a sausage-shaped mass.

This along with pyloric stenosis and malrotation with volvulus is a common paediatric surgical question. Know the differences between each.

Intussusception :

TRIAD of:  Abdominal pain, Currant jelly blood in stool , Sausage shaped mass on palpation (often in the right upper quadrant)

- Child is crying persistently

- Drawing up of legs

- May be vomiting if severe

Diagnosis:

- Abdominal ultrasound may show doughnut or target sign

- Bowel enema

Treatment:

- Air enema reduction or laparotomy

Remember:

“Red currant jelly” stools are pathognomonic for intussusception.

The diagnosis here is coeliac disease. Bulky, frothy, and floating (difficult to flush) stools are a hint that he is having a malabsorption syndrome. He looks pale because he is anaemic.

If you have answered A (Sweat chloride test) for cystic fibrosis. You are not completely wrong as cystic fibrosis can occur at that age as well and has symptoms of malabsorption too (foul-smelling bulky stool that "floats).

But the question writers are likely to give other hints like “repetitive cough over the last few months” if cystic fibrosis is the likely diagnosis. Also, given the two diseases, coeliac is much more common compared to cystic fibrosis, and thus the most likely investigation that would lead to a diagnosis is anti-endomysial antibodies. 

Due to the CTFR gene, there are abnormal chloride channels in the epithelial cells. This causes abnormal fluid production which results in increased thickening of mucus hence increasing the changes of pulmonary infections. Ciliary dysfunction is seen in Kartagener’s syndrome.

CYSTIC FIBROSIS is an autosomal recessive disorder that induces low salt and chloride excretion into airways leading to increased viscosity of secretions

Clinical presentation :

- Recurrent chest infections (Cough and chronic sputum production)  

- Recurrent chest infections may lead to bronchiectasis

- Malabsorption leading to frequent, bulky, greasy stools (Steatorrhoea), failure to thrive

- Pancreas increased incidence of diabetes mellitus

- Delayed sexual development

- Male infertility, female subfertility

- Salty taste of skin

- Short stature

- Meconium ileus (in neonatal period)

Diagnosis :

• Primarily made during newborn screening (Guthrie test) All newborn infants are screened for cystic fibrosis using the heel-prick test.

The majority of them would be identified using this method  If this is positive, then molecular genetic testing for the CTFR gene and sweat test would follow.

• If not picked up by newborn screening and later on develops clinical manifestations of cystic fibrosis, then perform sweat test or genetic testing for the CFTR gene.

The given case is classic picture of acute epiglottitis. The thumb sign is a manifestation of an oedematous and enlarged epiglottitis which is seen on lateral soft-tissue radiograph of the neck, and it suggests a diagnosis of acute infectious epiglottitis. The second clincher here is drooling of saliva. If you find any questions with a child with drooling of saliva.

It is likely that this is acute epiglottitis, Summon the most experienced anaesthetist to intubate before obstruction occurs.

Acute epiglottitis - Now rare due to the introduction of Hib vaccine. However, it is still a serious infection.

Prompt recognition and urgent treatment is essential.

Caused by Haemophilus influenzae type B.

This is a diagnosis of Wolff-Parkinson-White (WPW) syndrome. The age group for the case stem may present itself in older age (i.e. 20-30).

However, the features are similar to the stem above. Note the ECG features, especially delta waves and pre-excitation pathway.

Wolff-Parkinson-White syndrome :

- Child may be exercising with sudden onset of pallor, difficulty breathing, and palpitations followed by spontaneous recovery

- Otherwise, an asymptomatic child

- ECG: delta waves, pre-excitation pattern, prolonged QRS, shortened PR.

Diagnosis:

- ECG - 24 hour Holter monitor

Treatment:

- Catheter ablation - first line

- Medications : flecainide and propafenone.

This is a diagnosis of vesicoureteral reflux (VUR). For urology questions in paediatrics in this exam, pay particular attention to VUR and urinary tract infections.

Do not go into details for these questions, just know the basic presentation, diagnosis, and management according to current guidelines.

According to guidelines, she would start with low-dose antibiotic prophylaxis before consideration for surgery.

Vesicoureteral reflux : A condition where urine flows retrograde from the bladder into ureters/kidneys.

Presentation :

• Most children are asymptomatic

• Increases risk of urinary tract infection  

Thus, symptoms of UTI:  Fever, Dysuria, Frequent urination, Lower abdominal pain.

Diagnosis :

• Urinalysis, urine culture, and sensitivity initial investigation.

• Renal ultrasound initial investigation might suggest the presence of VUR if ureteral dilatation is present.

• Micturating cystourethrogram gold standard

• Technetium scan (DMSA)  for parenchymal damage (seen as cortical scars)

Treatment :

• VUR grade I-IV

- Start with low-dose antibiotics prophylaxis daily (i.e. trimethoprim)

• If the above fails and/or parenchymal damage consider surgery - reimplantation of the ureters. Note that during early childhood, the kidneys are at higher risk of developing new scars.

. So it is particularly important to start parenteral antibiotic treatment for patients with vesicoureteral reflux before febrile breakthrough infections. For patients with frequent breakthrough infections, definitive surgical or endoscopic correction is preferred.

Surgical correction should also be considered in patients with persistent high-grade reflux (grades IV/V) or abnormal renal parenchyma.

Scarlet fever is the diagnosis here. It is common around ages 2 to 8 years. The white coating of the tongue is an appearance of a white strawberry tongue.

Usually, there are also prominent red papillae seen. The rash described is characteristic of the rash of scarlet fever.

The other options remain less likely Roseola infantum (herpes 6 virus) may present with small (< 0.5 cm) blanching, rose-pink rashes with a high fever.

The rash also commonly affects the trunk which is seen in this stem and it can present with a sore throat. However, they do not present with a strawberry tongue. Also, the most common age group that this disease occurs in is around 6 months to 1 year. Note that roseola infantum, similar spots occur on the soft palate and uvula called Nagayama spots. Rubella usually has a rash that starts behind the ears and spreads from there to the rest of the face or body.

Measles is usually present in a more unwell child with a fever of more than 40 C. The red spots begin on the face and behind the ears and spread over 24 to 36 hours covering the majority of the body except the soles and palms. The spots can initially be as big as 1 cm in diameter and often appear together.

SCARLET FEVER : Key points Commonest in ages 2 to 8 years old

• Caused by group A streptococcus pyogenes

• Rash and fever are caused by toxins released by bacteria

• Diagnosis is clinical

• Presents with a sore throat, fever (usually more than 38.3 C), and a rash.

• Rash: Starts on torso 12 to 48 hours after fever and spreads to extremities, has a coarse texture like sandpaper

.• Other features : Strawberry tongue, Cervical lymphadenopathy, Tonsils covered with pale exudates with red macules on the palate (Forchhemier spots)

• Treatment is with penicillin V for 10 days.

Picture of strawberry tongue below.

Apgar score is a scoring system used to evaluate a newborn baby. It is done at 1 minute and 5 minutes after birth. It may be repeated at 10 minutes if scores remain low.

The Apgar score is calculated by adding the total score of 5 components.

Score 0:

Skin color - Blue or pale all over 

Pulse rate - absent , Reflex irritability

Grimace - No response to stimulation

Activity - Flaccid

Respiratory effort - Absent

Score 1: Skin colour - Blue at extremities body pink (acrocyanosis) Pulse rate - < 100 beats/minute Reflex irritability grimace - Grimace on suction or aggressive stimulation Activity - Some limb flexion Respiratory effort - Weak, irregular, gasping

Score 2: Skin colour - No cyanosis body and extremities pink Pulse rate - > 100 beats/minute Reflex irritability grimace - Cry on stimulation, sneezes, coughs Activity - Flexed arms and legs that resist extension Respiratory effort - Strong, robust cry Component of backronym: Appearance Pulse Grimace Activity Respiration

The diagnosis is an inguinal hernia.

There are no clues in the stem of strangulation; therefore, the herniotomy can be done electively. Most inguinal hernias can be reduced by gentle compression in the line of the inguinal canal.

A paediatric surgeon will do an elective herniotomy on an outpatient basis for this child as long as it can be reduced. Herniotomy is usually performed for children under 10 years. Herniorrhaphy is done in adults.

Herniotomy is where there is ligation of the processus vaginalis which has become the hernia sac. Herniorrhaphy, which is done in adults, involves reinforcing the abdominal wall with a mesh.

There is no need to do an orchidopexy since this patient’s testicles are both palpable in his scrotum and they are not incarcerated. In children, if reduction is impossible, an emergency surgery would need to be performed due to the risk of compromise of the bowels or the testes.

Features of a strangulated hernia include:

• Pain

• Inflammation

• Nausea and vomiting

• Fever

• Features of bowel obstruction such as severe abdominal pain, constipation and abdominal distention.

A tall, myopic child can only be Marfan’s syndrome in the exam. The cardiovascular symptoms support this diagnosis.

Marfan's syndrome Features;

• Tall and thin

• Long arms, legs, fingers, and toes

• Arachnodactyly (long spidery fingers)

• Flexible joints

• Scoliosis

• Cardiovascular  Aortic dilatation or dissection, aortic regurgitation, mitral valve prolapse, mitral regurgitation, abdominal aortic aneurysm

• Lungs pleural rupture causing spontaneous pneumothorax

• Eyes lens dislocation, high myopia.

Cystic fibrosis is often very difficult to manage and usually requires a multidisciplinary team approach. The physiotherapist helps the patient clear the bronchial secretions by physiotherapy, the paediatrics often have to prescribe antibiotics to treat the chest infection and prescribe pancreatic enzyme supplements to correct nutritional deficits. All the answers given have a place in the management of cystic fibrosis and the real challenge here is picking which one is the best.

Chest physiotherapy involves techniques to clear the mucous such as postural drainage where gravity-assisted positions are used to aid drainage. Other techniques include chest percussion and a positive expiratory-pressure device to aid dislodgement and expectoration of sputum. This would improve this patient’s symptoms of dyspnoea and mucopurulent sputum. Although oxygen usually forms part of the initial treatment for anyone presenting with dyspnoea, it is not the most appropriate management for this patient since his oxygen saturation is normal. Antibiotics are indicated in patients with cystic fibrosis only in an acute exacerbation of the disease or as prophylaxis in childhood. The prophylactic antibiotic to offer is flucloxacillin as it works well against respiratory Staphylococcus aureus infection for children with cystic fibrosis. It is offered from the point of diagnosis up to age 3, and consider continuing up to 6 years of age. If a mild exacerbation is present, antibiotics can be prescribed for 2 weeks.

Bronchodilators, specifically beta-2 agonists, are indicated in the management of patients with cystic fibrosis but they only benefit some patients who have a reversible component of their airway obstruction.

The question becomes more difficult to answer because dyspnoea and increased sputum production are considered early signs of an exacerbation in which case bronchodilators, antibiotics, and even corticosteroids have a role.

However, since his observations are well and there is no history of fever or signs of infection, chest physiotherapy still remains the best choice among the answers.

This is a classic case of measles. The rash seen on his buccal mucosa is called Koplik spots. He was not given routine immunizations which include measles, mumps, and rubella (MMR) vaccine which if he had the first jab, could have decreased his chance of developing measles.

The distractor here is rubella which can present almost exactly like measles. The key features commonly seen in questions, if rubella (instead of measles) were to be the answer, are swollen lymph nodes.

• Spots on the soft palate (Forschhemier spots). In measles, the spots are on the buccal mucosa and are called Koplik spots.

Measles mnemonic to remember - Hard K sounds Koplik spots, Cough, Conjunctivitis, Coryza.

Prodromal features : irritable, conjunctivitis, fever & pathognomic Koplik spots (before rash): white spots ('grain of salt) on the buccal mucosa- maculopapular rash: starts behind ears and then to the whole body.

The clinical features described are consistent with urinary tract infections for which a clean catch of urine is the next best action. Special arrangements may be needed for collecting a sample from a child. Clean catch, catheter, or suprapubic aspiration are methods used that reduce the risk of contamination.

Routine investigations that are done in urinary tract infections are:

• Dipstick analysis of urine - may treat as bacterial if there are positive results for nitrite and/or leukocytes

• Urine microscopy - leukocytes indicate the presence of infection • Urine culture.

Spontaneous pneumothorax is common in Marfan’s syndrome. The other signs and symptoms point toward Marfan’s syndrome as well.

The clincher is unable to swallow his saliva. If you find any questions with a child with drooling saliva, this is likely acute epiglottitis. Summon the most experienced anaesthetist to intubate before obstruction occurs. In the above options, securing the airways is the most appropriate.

This is a seemingly tough question which in actuality, is quite simple. The normal weight for a 3-year-old male child is around 14 kg.

We can see from admission that his weight is way below the average for his age group. The fact that his weight improved in the hospital and declined upon discharge is highly suspicious of negligence.

Another clincher to this fact is the frequent hospital admissions. We cannot say this child has leukaemia or cystic fibrosis (although it is possible) because there is no evidence in the stem to suggest this. Thus, the best answer is nonaccidental injury. In certain questions like this one, there is insufficient information to properly know for certain which is the correct answer. These types of questions may reflect those that appear in the exam.

Options C and A are still the top choices.

Make one of these your choices and move on to the next question. Do not overthink this as it could waste valuable time in the exam.

Non-accidental injury / neglect :

• Frequent attendance or unusual patterns of attendance to health care services, including frequent injury.

• Failure to access medical care appropriately (including non-attendance for routine immunizations, and delay in presentation).

• Explanations that are inconsistent over time or between people, or which are not consistent with the presenting features.

• There is evidence of failure to thrive.

• Parents or carers do not administer prescribed medication.

• Inexplicably poor response to treatment.

• Reporting of new symptoms as soon as previous ones resolve.

Giardiasis Presentation:

- Watery diarrhea, foul-smelling flatulence

- Nausea, belching - Abdominal pain - +/- Fever

Diagnosis: - Stool microscopy - first line

- Stool PCR / ELISA

Treatment: - Hygiene - Metronidazole.

To answer what type of electrolyte imbalance this baby has, we first have to know a little about the condition he has presented with. The child has congenital adrenal hyperplasia.

The bilaterally enlarged adrenal glands in the stem directly point you to this diagnosis. Congenital adrenal hyperplasia has many different forms and varying severity however, it usually presents with the ‘salt-wasting’ form early on in males. The exam is likely to only test the ‘salt-wasting’ form in male children.

Jaundice in newborns is an important topic within the paediatric section for exam. Understand the mechanisms and management for neonatal jaundice as well the causes of jaundice post 4 weeks of age. Examination results are consistent with obstructive jaundice therefore option C.

Jaundice in option B would occur within 24 hours of birth. Galactosemia would present with vomiting, diarrhea, failure to thrive with jaundice. The liver would not be hard or enlarged.

BILIARY ATRESIA : Biliary atresia is notoriously asked during exams so one should know this topic inside and out.

Presentation:

- Jaundice with pale stools and dark urine

- Usually would present in 3-4 weeks of life

- Splenomegaly is not usually a feature unless the presentation is late

- Failure to thrive is a result of poor absorption

Diagnosis :

- Abdominal ultrasound (initial investigation)

- Cholangiogram (definitive diagnosis)

Treatment :

Kasai procedure = hepatoportoenterostomy.

It is extremely important to diagnose biliary atresia early as without intervention, chronic liver failure will develop which usually leads to death before age 2.

NEONATAL JAUNDICE :

Physiological jaundice -

- This results from increased erythrocyte breakdown and immature liver function.

- It presents at 2 or 3 days old, begins to disappear towards the end of the first week, and has resolved by day 10.

- The bilirubin level does not usually rise above 200 mol/L and the baby remains well.

Early neonatal jaundice (onset less than 24 hours)

Note: The most common pathological causes of neonatal jaundice within 24 hours are:

Rhesus incompatibility, ABO incompatibility, G6PD, and sepsis.

Haemolytic disease: eg, haemolytic disease of the newborn (rhesus), ABO incompatibility, glucose-6-phosphate dehydrogenase deficiency, spherocytosis.

Infection: congenital (eg, toxoplasmosis, rubella, cytomegalovirus (CMV), herpes simplex, syphilis) or postnatal infection.

Crigler-Najjar syndrome or Dubin-Johnson syndrome.

Gilbert's syndrome - Prolonged jaundice (jaundice lasting for longer than 14 days in term infants and 21 days in preterm infants)

Note: The most important diagnosis not to be missed in this group is biliary atresia.

• Hypothyroidism - Congenital hypothyroidism is usually identified on routine neonatal biochemical screening (Guthrie test)

• Hypopituitarism

• Galactosaemia

• Breast milk jaundice: The baby is well and the jaundice usually resolves by six weeks but occasionally continues for up to four months.

• Gastrointestinal (GI): biliary atresia, neonatal hepatitis.

** Biliary atresia (commonly asked question)  

Neonatal hepatitis : It is worth knowing a little about the system for newborn jaundice follow-up care following birth for mothers and newborns are delivered by the community midwives.

They would come to visit the mother and newborn at their own homes. If the newborn remains jaundiced after 14 days (or 21 days for premature babies), they are referred back to the hospital to see a paediatrician who would investigate further to rule out other rarer causes of jaundice.

The most important reason that investigations need to be carried out for infants with jaundice lasting longer than 14 days is to diagnose biliary atresia promptly, as delay in surgical treatment in this group could lead to severe complications. A split bilirubin blood test is usually performed to see the levels of conjugated and unconjugated bilirubin.

If hyperbilirubinaemia is unconjugated, the paediatric team is usually reassured since biliary atresia would have high levels of conjugated bilirubin.

Bloods show a hypochloraemic, hypokalaemic alkalosis which points towards the diagnosis of pyloric stenosis. This is diagnosed using an abdominal ultrasound.

The diagnosis here is bronchiolitis. Supportive care is the mainstay of treatment involving oxygen. Oxygen supplementation should be given to children with bronchiolitis if their oxygen saturation is persistently less than 92%. The evidence for using nebulised salbutamol for children with bronchiolitis has always been very shaky.

Currently NICE does not recommend using salbutamol as part of the management for children with bronchiolitis.

Bronchiolitis - An acute infectious disease of the lower respiratory tract that occurs primarily in the very young, most commonly infants between 2 and 6 months old - Respiratory syncytial virus (RSV) is the pathogen in 75-80% of cases.

It is a clinical diagnosis based upon:

- Breathing difficulties

- Cough

- Coryzal symptoms (including mild fever)

- Decreased feeding

- Apnoeas in the very young

- Wheeze or fine inspiratory crackles on auscultation

Management :

- Largely supportive involving humidified oxygen.

This is a diagnosis of ulcerative colitis (UC).

Question would usually have an adolescent (12-17 years) who either presents to the clinic or emergency with the above symptoms. There may or may not be other UC clues: growth failure, toxic megacolon, and affecting only the submucosa of the colon.

In this case, the patient is classified as having mild to moderate UC according to NICE.

Ulcerative colitis in Paediatrics :

- Bloody diarrhea, abdominal pain, tenesmus, vomiting, weight loss, fatigue

- p-ANCA positive

Diagnosis:

- Clinical diagnosis combined with rectal biopsies

- Upper endoscopy - to rule out Crohn’s

- Stool culture - to rule out infection

Treatment:

- Topical and oral aminosalicylate (mesalazine/sulfasalazine)

- First line - Add prednisolone orally

- Only if aminosalicylate is ineffective with no improvement after 4 weeks treatment

- Infliximab - only in severe UC for paediatrics

- Cyclosporin - if severe UC

- Surgery - only consider if severe.

The given case is a classic picture of acute epiglottitis.

The clincher here is drooling of saliva. If you find any questions with a child with drooling saliva, this is likely acute epiglottitis.

Summon the most experienced anaesthetist to intubate before obstruction occurs.

This is a diagnosis of idiopathic thrombocytopenic purpura (ITP). This is a common exam topic under the haematology component.

The main clues in the case stem from ITP: previous viral infection, or in younger children previous immunization along with low platelets.

Also, the petechiae would be mainly in the legs and on occasion on the arms. Otherwise, the child feels well and is active.

Idiopathic thrombocytopenic purpura presentation:

- Follows viral infection or immunization

- The most common presentation is petechiae or bruising.

Petechiae mainly in arms and legs

- Sudden onset

- Up to a quarter present with nosebleeds

- Haematuria and gastrointestinal bleeds are less common.

- Older girls may have menorrhagia

- Otherwise, the patient is well and physical examination is normal

Laboratory diagnosis -

Isolated thrombocytopenia; blood count otherwise normal

Management:

• Prednisolone

• IV immunoglobulin

• Emergency platelet transfusion only in life-threatening haemorrhage (usually platelet less than 20 x 109/L).

A skeletal survey is a series of x-ray that are usually used in non-accidental injuries (NAI). It is performed systematically to cover the entire skeleton. Typically, this includes a bilateral anteroposterior and posteroanterior views of arms, forearms, humerus, feet, legs, femur, pelvis, spine, and skull. Once the skeletal survey has been done, then think of the child’s protection register and involve social services.

As a junior doctor, you should involve your seniors prior to checking the child’s protection register or involving social services.

The chief consideration is the treatment and protection of the child, so do not delay treatment of painful or apparently life-threatening problems, whilst awaiting an ‘expert’.

In every hospital system, there will be a designated doctor for child protection who should be available for advice. He or she will examine the child and arrange hospital admission for further investigations (e.g. skeletal survey) as necessary.

Social Services and the police may need to be involved. Children naturally sustain bruises during minor incidents as part of ‘growing up’

Bruising over the knees and shins is a normal finding in children, particularly toddlers, who are also prone to sustaining injuries to their foreheads and chin as a result of falls. As well as considering the possibility of NAI, remember that bruising may occur as part of an unusual pathological disease process (eg Henoch–Schönlein purpura, haemophilia, ITP, leukaemia, and other causes of thrombocytopenia).

The following bruises should prompt consideration of NAI:

- Bruising in unusual sites (the eg medial aspect of upper arms or thighs)

- Finger ‘imprinting’ (eg grip complexes around upper limbs or slap marks)

- Imprints or marks from other objects (eg belt, stick)

Consider NAI in the following fractures :

- Multiple fractures of different ages

- Rib and spinal fractures

- Fractures in infants who are not independently mobile

- Long bone fractures in children. There are a few rare bone diseases that may mimic NAI.

One commonly asked in exam is Osteogenesis imperfecta. They would usually give other clues such as a blue sclera, dental abnormalities, and brittle bones.

This young boy has 5 out of 5 of the diagnostic features of Kawasaki disease with a fever above 39 C for more than 5 days. It is important to realize that in its early stages, Kawasaki disease can mimic a viral exanthem so it is often diagnosed as a viral rash and children are sent home.

Kawasaki disease and scarlet fever have many similarities such as rash, fever, strawberry tongue (which was not mentioned in the stem), and cervical lymphadenopathy however the primary complaint of scarlet fever is usually a sore throat.

KAWASAKI DISEASE is a febrile systemic vasculitis that predominantly affects children under 5 years of age. The disease is more common in Japanese children hence the Japanese name “Kawasaki” . The diagnosis is made by clinical findings alone.

Fever above 39 C for more than 5 days and at least 4 of the following features are diagnostic.

• Conjunctivitis

• Polymorphous rash

• Extremity changes: Erythema of palms and soles that later leads to desquamation

• Mucous membrane changes: Red, fissured lips, strawberry tongue

• Cervical lymphadenopathy : Prompt recognition is important as aneurysms of the coronary arteries are potentially devastating complications and treatment with immunoglobulins reduces their incidence. These coronary arteries are affected in around 30 percent of children within the first 6 weeks of illness. Hence, an echocardiogram would be an important investigation during the child’s stay in the hospital.

Bilateral, non-exudative conjunctival injection. Strawberry tongue and bright red, swollen lips with vertical cracking and bleeding. Desquamation of the fingers.

Management :

• High dose aspirin – Reduces risk of thrombosis. Once fever subsides and inflammatory markers fall, low-dose aspirin is given until an echocardiogram is performed at 6 weeks to exclude the aneurysm

• Intravenous immunoglobulin – If given within the first 10 days, reduces the risk of coronary artery aneurysms.

Around 30 to 40% of children with one episode of febrile seizure will continue to have another febrile seizure in the future.

Febrile seizures do have a genetic predisposition while there is a 10% risk of developing a febrile seizure if there is a first-degree relative who has suffered from febrile seizures. Around 10% of children with complex febrile seizures go on to develop epilepsy.

Cot death is more properly known as sudden infant death syndrome (SIDS). It is the term used to describe the sudden death of a child under the age of 1 year in its sleep where no cause or reason can be found. All other possible causes of death must be excluded for this diagnosis to be made. Sleeping position is particularly important.

Prone sleeping is a major, modifiable risk factor. Placing babies on their backs to sleep is advice that should be reinforced by professionals. Reassure parents that the risk of aspiration is not increased by sleeping in this position and several studies have confirmed this.

Other take home notes are:

• Soft bedding increases the risk of SIDS

• Pillows should not be used.

SUDDEN INFANT DEATH SYNDROME (SIDS) : These are some advice to give parents to decrease the risk of sudden infant death syndrome (SIDS)

• Avoid smoking near infants

• Put infants to sleep on their backs (not their front or sides)

• Avoid overheating by heavily wrapping infants

• Blankets should not be higher than their shoulders

• Infants should be placed with their feet at the foot of the cot

• Avoid bringing a baby into the bed after parents have consumed alcohol or sedative medications

• Avoid sleeping with an infant on a sofa

• Avoid using a pillow

• Use sheets and blankets rather than a duvet.

There are two types of allergic reactions to cow’s milk protein: IgE-mediated reactions and non-IgE-mediated reactions.

IgE-mediated reactions - 

• Occur within two hours of milk being consumed

• Symptoms include:  Nausea, Vomiting, Colicky abdominal pain

• Skin manifestations include:  Pruritus, Erythema, Urticaria or angioedema

Non-IgE-mediated reactions -

• Occur hours or days after ingesting milk

• Symptoms include:  Reflux, Loose stools or constipation, Perianal redness, Abdominal pain, Food aversion.

• Skin manifestations include:  Pruritus, Erythema, Atopic eczema, Upper and lower respiratory tract symptoms such as cough or a wheeze may be present for both IgE-mediated and non-IgE-mediated.

The best way to test for IgE-mediated reactions is to diagnose it with a skin prick test or a blood test.

The best way to diagnose non-IgE-mediated reactions is to exclude cow’s milk from the diet or to use a hypoallergenic formula such as an extensively hydrolyzed formula and see if there is an improvement in symptoms. We would normally expect improvements in symptoms in 2 weeks. If symptoms persist whilst using extensively hydrolysed formula, then swap to an amino acid formula.

Not gaining weight and reflux is seen more in non-IgE mediated reactions and thus this stem represents a classic scenario of a non-IgE mediated reaction and trying hypoallergenic formulas would be appropriate.

Key points to remember for exam purposes: If cow’s milk allergy is suspected and the reaction is acute

– Think IgE-mediated If cow’s milk allergy is suspected and the reaction is delayed (reflux, loose stools, tapering of growth)

– Think non-IgE-mediated.

This is a probable non-accidental injury. This infant weighs 4.1kg. For a 4-month-old infant, this is beneath the normal weight gain line. A female infant of 4 months should weigh about 6.1kg and a male infant of 4 months should weigh about 6.8kg.

Another clue to the diagnosis of NAI is the multiple bruises on her lower limbs. This is the most common site of NAI in the infant population. It arises from parents or caregivers gripping and pulling the infant by the legs.

Haemophilia is incorrect because even though haemophilia is a possible diagnosis, it is improbable. Haemophilia is an X-linked recessive condition and this is a female infant.

Haemophilia CAN affect females but it is extremely rare and if they had wanted you to pick haemophilia they would have given additional clues such as neonatal bleeding following venipuncture, gastrointestinal hemorrhage, or intracranial bleeding.

Thrombocytopenia is incorrect because it usually presents following a viral infection in children. Although it presents with bruising and petechiae,

it is an improbable answer to this question because the diagnosis of thrombocytopenia lies solely in blood testing and blood smear. You cannot make a diagnosis of thrombocytopenia based on clinical signs.

The diagnosis here is coeliac disease. Bulky, frothy, and floating (difficult to flush) stools are a hint that he is having a malabsorption syndrome.

He looks pale because he is anaemic.

If you have answered A (Sweat chloride test) for cystic fibrosis. You are not completely wrong as cystic fibrosis can occur at that age as well and has symptoms of malabsorption too (foul-smelling bulky stool that "floats).

But the question writers are likely to give other hints like “repetitive cough over the last few months” if cystic fibrosis is the likely diagnosis. Also, given the two diseases, coeliac is much more common compared to cystic fibrosis, and thus the most likely investigation that would lead to a diagnosis is anti-endomysial antibodies. 

Know the step-wise management for acute asthma exacerbation in paediatric and adult medicine. Questions in exam would have a similar case stem but ask questions about investigations and treatment. Here the patient is breathless and we would need to see if she is in respiratory acidosis to determine the need for intubation/assisted ventilation.

Acute severe asthma : SpO2 <92% PEF 33–50% 

- Can’t complete sentences in one breath or too breathless to talk or feed

- Heart rate >125 (>5 years) or >140 (2-5 years)

- Respiratory rate >30 breaths/min (>5 years) or >40 (2–5 years)

Life-threatening asthma : SpO2 <92% PEF <33%

- Silent chest - Cyanosis

- Poor respiratory effort

- Hypotension

- Exhaustion

- Confusion 

MANAGEMENT OF ACUTE EXACERBATION IN CHILDREN :

Immediate treatment -

• Start O2 if saturations < 94%, aim sats 94-98%

• Salbutamol nebulized with O2 (pMDI + spacer if mild exacerbation)

• Add ipratropium bromide (mixed with the nebulised salbutamol solution) if refractory to initial salbutamol nebulizers

• Oral prednisolone unless vomiting, then give intravenous hydrocortisone. Remember, salbutamol and ipratropium bromide nebulizers can be repeated.

Other treatments to consider:

• Intravenous salbutamol in severe attack where the child is not responding to salbutamol nebulizers

• Intravenous aminophylline with severe attack not responding to other treatments

• Intravenous magnesium sulphate.

Cushing’s syndrome is a frequent topic that overlaps in pediatrics and endocrinology for EXAM. Here it is important to make a few assumptions. The child had a renal transplant and is most likely taking corticosteroids as part of his medication regime.

Long-term steroid use would induce Cushing’s syndrome. Short stature would also result because the steroids would cause premature fusion of the growth plates.

Presentation:

The patient is taking oral steroids

- Obesity, moon face, buffalo neck hump, purple abdominal striae

- Behavioral/mood changes 

- Short stature

Diagnosis: - Overnight dexamethasone suppression test or 24-hour urinary free cortisol (first line)

Treatment: - Taper the child’s steroid medication if possible or find another alternative for immunosuppression.

Intravenous magnesium sulphate would be the next medication to use in the severe exacerbation of asthma. At this stage, it would also be appropriate to inform the anaesthetist and paediatric intensive care unit as intubation may be required.

There is insufficient evidence to support the use of inhaled corticosteroids in acute asthma in children.

Oral steroids would be the next medication to administer.

This involves liquid prednisolone or crushed prednisolone tablets dissolved in water to be consumed by the child. Intravenous corticosteroids could also be given if the child was having difficulty swallowing due to his breathing or if he was vomiting however that option was not given here.

UTI presents atypically in neonates and may be associated with life-threatening sepsis. If the child is less than 6 months old like in this case and responds well to treatment within 48 hours, an ultrasound can be arranged to be done within 6 weeks. Micturating cystourethrogram (MCUG) is considered only if the ultrasound is abnormal or if the child fails to respond to antibiotics within 48 hours.

MCUG can also be performed if there is a history of recurrent UTI. A dimercaptosuccinic acid (DMSA) scan is usually performed 4 to 6 months after the acute infection. It is not needed if the child responds well to antibiotics.

REMEMBERING PAEDIATRIC UROLOGY SCANS : The key to remembering paediatric urology scans is to remember the number 6!

If younger than 6 months:

• Ultrasound during acute infection – If does NOT respond well to antibiotics within 48 hours

• Ultrasound within 6 weeks – If respond well to antibiotics

• MCUG – If did NOT respond well to antibiotics during acute infection

• DMSA scan 4-6 months – If did NOT respond well to antibiotics during acute infection.

IMAGING CHILDREN WITH URINARY TRACT INFECTIONS :

Ultrasound is the : First line test , Non-invasive, No radiation exposure, Good at determining anatomy, renal size, and presence of most congenital anomalies, Not effective at detecting mild to moderate vesicoureteric reflux.

Micturating cystourethrography (MCUG) : Gold standard test for detecting vesicoureteric reflux which affects between 25% and 40% of children with confirmed urinary tract infection.

• Requires catheterization

• Radiation exposure DMSA (dimercaptosuccinic acid) scan

• Gold standard test for detecting renal scarring or damage to renal parenchyma occurring in about 5% of children after proven urinary tract infection.

• Uses intravenous radioactive isotope which concentrates in renal tissue

• Should not be done at the time of infection as may get false positive results

• Usually done 4 to 6 months after infection

Straightforward UTI :

• Responds well to treatment within 48 hours

Atypical UTI :

• Failure to respond to treatment within 48 hours

• Septicaemia

• Raised creatinine

• Infection with non-E. coli species

• DMSA during acute infection is always the WRONG answer

• MCUG after 3 years old is always the WRONG answer.

This patient has secondary enuresis. Secondary enuresis is defined as the involuntary passage of urine during sleep by a child who has previously been dry for at least six months. Enuresis can be divided into different types. Remember that enuresis is normal up to the age of 5 years.

The types of enuresis are as follows:

• Primary enuresis – Child aged 5 years or older who constantly wets the bed at night

• Primary enuresis with day time symptoms – Child aged 5 years or older who constantly wets the bed at night and who also has daytime symptoms such as urgency, frequency, or daytime wetting.

• Secondary enuresis – Child of any age who has previously been dry for at least six months and who is now wetting the bed consistently at night with or without daytime symptoms.

The most common cause of secondary enuresis is emotional upset. Other causes include urinary tract infection, constipation, or polyuria due to diabetes mellitus. It is therefore important to test the urine sample for infection and glucose. If there is no treatable UTI, then it would be reasonable to refer to a paediatrician for further investigation.

The paediatriacian would obtain a full history to look for any family problems, or developmental or learning difficulties that could account for the secondary enuresis. Remember, that one of the causes of emotional upset could be child abuse. Keep that in mind with any child who presents with secondary enuresis.

This is a diagnosis of congenital hypothyroidism. Usually, it is found upon newborn screening. In exam, thyroid disease is a frequent topic under the endocrine component. Know how thyroid diseases present in paediatrics, especially in infants. The symptoms and signs are not always as clear-cut as adults.

The infant would usually present with difficulty in feeding, constipation, little crying, and may not be very responsive. On examination, there may be enlarged posterior fontanelles and hypotonia along with other usual hypothyroidism features i.e. decreased temperature, bradycardia, puffy appearance.

Congenital hypothyroidism :

- Difficulty feeding, constipation, little crying

- Not very responsive

- Hypotonia, dry mottled cold skin

- Prolonged neonatal jaundice.

Diagnosis:

Neonatal screening for TSH and T4 serum/plasma

The results must be interpreted according to age because TSH and T4 levels in the first weeks of life are significantly different from those in later life.

Treatment: Levothyroxine oral until 2 years of age.

The urine dipstick test shows leukocytes. A urine culture will be used to help confirm a urinary tract infection. Action plan for infants and children between 3 months and 3 years old with a suspected urinary tract infection:

• If both leukocyte esterase and nitrite are negative: o Antibiotic treatment is not required A urine sample for microscopy and culture is not required unless suspected to have acute pyelonephritis or serious illness

• If either leukocyte esterase or nitrite is positive: Start antibiotic treatment, Send a urine sample for a culture.

This is a diagnosis of cystic fibrosis (CF).

For exam, this topic overlaps in both paediatric and adult medicine. Note that if the infant was older, then the stem would have features of “poor weight gain with foul-smelling stools” and some variation of respiratory deficit. However, this infant is a newborn, and therefore “meconium ileus” would be the most obvious clue to the diagnosis.

Features of cystic fibrosis in neonates/infants include -

• Poor weight gain

• Failure to thrive

• Meconium ileus

• Bilious vomiting

• Echogenic bowel on prenatal ultrasound.

Both lymphangioma and branchial cyst are lateral neck masses. Branchial cysts are not translucent whereas lymphangioma when subjected to light test is brilliantly translucent.

Lymphangiomas are uncommon, hamartomatous, congenital malformations of the lymphatic system that involve the skin and subcutaneous tissues. It occurs as a result of sequestration or obstruction of developing lymph vessels.

Lymphangiomas can occur anywhere in the skin and the mucous membranes. The most common sites are the head and the neck, especially in the posterior triangle of the neck. The cysts are lined by endothelium and filled with lymph. Occasionally unilocular cysts occur, but more often multiple cysts are infiltrating the surrounding structures and distorting the local anatomy.

The mass may be apparent at birth or may appear and enlarge rapidly in the early weeks or months of life as lymph accumulates; most present by age 2 years.(90% of lymphangioma occur in children less than 2 years). Lymphangiomas are soft and nontender and when subjected to light test brilliantly translucent.

Infant respiratory distress syndrome secondary to surfactant deficiency which is the cause of respiratory distress. There could be potential sepsis due to prolonged rupture of membranes which worsens the respiratory distress however this is unclear.

One must remember that prolonged rupture of the membrane is not a risk factor for IRDS. The incidence of IRDS decreases with prolonged rupture of membranes.

Note, however, that PROM occurring before 37 weeks (PPROM) is one of the leading causes of preterm birth. 30-35% of all preterm births are caused by PPROM. This puts the fetus at risk for the many complications associated with prematurity such as respiratory distress.

At this stage, a chest x-ray should be done to rule out other causes of respiratory distress. 

• Infant respiratory distress syndrome (IRDS) is caused by the inadequate production of surfactant in the lungs.

It is usually seen in premature infants where they have immature lungs.

• It affects approximately one-half of infants born at 28-32 weeks of gestation. It rarely occurs at term.

Risk factors:

• Premature delivery

• Infants delivered via caesarean section without maternal labour

• Maternal diabetes

Presentation :

• Respiratory distress very soon after birth:  Tachypnoea, Expiratory grunting, Subcostal and intercostal retractions, Diminished breath sounds, Cyanosis, Nasal flaring.

For EXAM, know some of the major causes of bloody diarrhea/stool. This is a diagnosis of haemolytic uraemic syndrome. Clues: a young preschool child on an outing with family or friends and returns with bloody diarrhea. If the stem does not state specifically, assume that the child ate or was in an environment at high risk for Shiga toxin-producing E. coli.

HAEMOLYTIC URAEMIC SYNDROME : 

Preschool children (< 5 years)

- TRIAD: microangiopathic haemolytic anaemia, thrombocytopenia, and acute renal failure - Bloody diarrhea, fever, abdominal pain

- Low hemoglobin and hematocrit, low platelets, hypoalbuminemia

Diagnosis: - Initial - E.coli serology, stool culture, urinalysis, full blood count

- Renal ultrasound to rule out damage

Treatment: - Hydration and electrolyte balance - +/- Nasogastric tube for nutrition intake - +/- Dialysis - Paracetamol for pain.

It is usual for babies to lose between five percent and 10 percent of their birth weight a few days after the birth. Note that this does not mean the child is not getting enough milk. One should not jump to the conclusion of child abuse with such minor weight loss.

Remember that in labour, very often mothers receive intravenous fluid to prevent dehydration.

This can contribute to a slightly higher birth weight for the neonate as he would have taken some fluid onboard. The fluids are lost over the next couple of hours to days which results in a reduction of weight. Following these few days of weight loss, there would be gradual weight gain. By day 14, most babies would be above their birth weight.

Meckel’s diverticulum clue (rule of 2): occurs between 2-3 years old, mostly male, approximately 2 inches long, around 2 feet away from the ileocaecal valve.

The child will usually start with painless rectal bleeding but is otherwise well. Know how to differentiate between painful and painless rectal bleeding in children for exam.

Options A to D would present with painful rectal bleeding with stool at onset.

Meckel’s diverticulum :

- Mostly asymptomatic

- Painless rectal bleeding

- If obstruction: vomiting, abdominal pain

- Age group: 2-3 years old; mostly male

Diagnosis:

Radioisotope scan - initial - Laparotomy

Treatment: - Surgical resection.

There is no feature of intracranial haemorrhage but the swelling and tenderness of the right cheek are likely to indicate a facial injury. While facial X-rays used to be used more frequently in the past for investigations of facial fractures, the modality of choice is now computed tomography to evaluate facial features.

However, as a foundation year doctor, it would be easy, quick, and appropriate to request a facial X-ray in this situation. It may show possible signs of a facial fracture (such as fluid level in the sinuses), however, a CT of the face would be needed to confirm the diagnosis.

A child who is unable to walk by 18 months of age should be referred to a specialist community paediatric assessment. This shows a delay in gross motor development.

For exam, usually the paediatric immunization case stem would be similar to the one above. Know the immunization schedule and the protocol for giving it.

Proceed with immunization and reassure parents that a slight fever post-vaccine is normal, and can be relieved with paracetamol. If it persists for more than 1 week then seek expert help.

Sweat testing confirms the diagnosis and is 98% sensitive. Chloride concentration > 60 mmol/L with sodium concentration lower than that of chloride on two separate occasions.

This is a question of exclusion. Biliary atresia causes obstructive picture where stools are pale and the urine becomes dark which is NOT the case here.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency like other haemolytic diseases has an onset of jaundice usually less than 24 hours Breast milk jaundice is a possibility but usually the baby is well and the jaundice usually resolves by six weeks. Occasionally it can continue for up to four months.

Congenital viral infection usually causes jaundice in the first 24 hours as well. The only possible answer is galactosaemia.

Galactosaemia : Although it is a rare inherited disease it is among the most common carbohydrate metabolism disorders.

It can be a life-threatening illness during the newborn period. Cardinal features are hepatomegaly, cataracts, and mental handicap.

Presentation :

- There is often feeding difficulty, with vomiting and failure to gain weight, with poor growth in the first few weeks of life

- Lethargy and hypotonia occur

- Jaundice and hepatomegaly develop

- Cataracts may be apparent even in the early days of life.

For the exam, pick galactosaemia when you see these symptoms in a prolonged jaundice infant:

• Poor feeding

• Vomiting

• Hepatomegaly

Management: As soon as the diagnosis is made, milk should be discontinued to remove the lactose load. This will have some immediate benefits. A galactose-free diet helps prevent the progression of liver disease.

This is a classic scenario for Tourette’s syndrome in exam. Other clues that may appear on exam may be the child yelling in class intermittently or shouting expletives. Most Tourette's syndromes are diagnosed at 6-8 years, maximum to the age of 13.

The other syndrome are less likely to be the answer:

Asperger syndrome: Characterized by severe persistent impairment in reciprocal social interactions, repetitive behavior patterns, and restricted interests. IQ and language are normal or, in some cases, superior.

Although tics (like the above case) can also be found in Asperger's syndrome, it is more specific for Tourette’s syndrome.

Not to mention, the question would include an impairment of social skills if the  examiners wanted you to have picked Asperger syndrome.

Cotard’s syndrome is a rare mental illness in which an afflicted person holds the delusion that they are dead Rett’s syndrome  There is normal development for 2–3 years, followed by a loss of acquired motor, language, and social skills between ages 3 and 4 years. Stereotypies and compulsions are common.

Ekbom’s syndrome. Also called restless leg syndrome. Unpleasant, often painful sensations in the legs, particularly on sleep onset.

Tourette’s syndrome presentation:

• Young (6-8 years old) mostly male

• Repetitive movements or gestures that are disruptive in the classroom or to people around the child (can be motor or vocal)  

• Jerks, blinks, sniffs, nods, spitting, stuttering, irrepressible explosive obscene verbal ejaculations, grunts, and squeaks.

Treatment:

• Risperidone or haloperidol

• Behavioral therapy - Habit-reversal training.

This is a diagnosis of necrotizing enterocolitis (NEC). This is a classic presentation and following is are the clues: abdominal distension, bloody stool, and air in the bowel wall. Note that the infant is premature although they can also be a term infant in these case stems.

According to guidelines, this infant is between Stage Ib and IIa of NEC, therefore option C is the most appropriate.

Necrotising enterocolitis presentation:

- Premature > term infant

- Vomiting (feeding intolerance), decreased activity, varying temperature

- Abdominal distension, bloody stools

- Abdominal plain film - air in the bowel wall

Diagnosis:

- Bell’s criteria/staging system

- Abdominal x-ray (supine antero-posterior; lateral decubitus)

Blood work - includes blood film, culture, coagulation, blood gas

Treatment: - Initial - stop feeds. NG tube free drainage with aspiration, antibiotics, fluids and electrolyte balance.

- Antibiotics - penicillin + gentamicin + metronidazole

- If pneumoperitoneum - surgery.

This child is dehydrated. The low urine output, dry mucous membranes, and decreased skin turgor are signs of dehydration. Fluid replacement is needed. The most common cause of gastroenteritis in children is rotavirus When assessing hydration status NICE advocates using normal, dehydrated, or shocked categories rather than the traditional normal, mild, moderate, or severe categories.

Estimating dehydration -

Clinical dehydration : Decreased urine output, Sunken eyes, Dry mucous membranes, Tachycardia, Tachypnoea, Reduced skin turgor, Clinical shock, Decreased level of consciousness, Cold extremities, Pale or mottled skin, Tachycardia, Tachypnoea, Weak peripheral pulses, Prolonged capillary refill time, Hypotension.

Management : If clinical shock admits for intravenous rehydration If just dehydrated. 

Oral rehydration solution would do is unlikely to ask you to differentiate between clinical dehydration and clinical shock. However, you must be able to recognize the signs and symptoms of dehydration.

Antibiotic prophylaxis should be given before considering surgery. When medical management fails to prevent recurrent urinary tract infections, or if the kidneys show progressive renal scarring then surgical interventions may be necessary. Surgical corrections are generally reserved for the higher-grade refluxes (not low-grade).

The main idea of antibiotic prophylaxis is to reduce the risk of urinary tract infection and thus reduce renal scarring.

Vesicoureteral reflux - Condition where urine flows retrograde from the bladder into ureters/kidneys.

Presentation - Most children are asymptomatic - Increases risk of urinary tract infection  

Thus, symptoms of a UTI:  Fever, Dysuria, Frequent urination, Lower abdominal pain.

Diagnosis - Urinalysis, urine culture, and sensitivity

Initial investigation - Renal ultrasound; initial investigation might suggest the presence of VUR if ureteral dilatation is present.

Micturating cystourethrogram is gold standard - Technetium scan (DMSA) for parenchymal damage (seen as cortical scars)

Treatment - VUR grade I-IV - start with low-dose antibiotics prophylaxis daily (i.e. trimethoprim) - If the above fails and/or parenchymal damage consider surgery - reimplantation of the ureters.

Remember, the goal of treatment is to minimize infections, as it is infections that cause renal scarring and not vesicoureteral reflux. Thus, the importance of continuous antibiotic prophylaxis outweighs surgery in most cases.

Note that during early childhood, the kidneys are at higher risk of developing new scars. So it is particularly important to start parenteral antibiotic treatment for patients with vesicoureteral reflux before febrile breakthrough infections.

For patients with frequent breakthrough infections, definitive surgical or endoscopic correction is preferred.

Surgical correction should also be considered in patients with persistent high-grade reflux (grades IV/V) or abnormal renal parenchyma.

This child has features of dehydration. Although normal saline can be used for initial boluses in children, it is important to remember that 0.9% sodium chloride + 5% glucose is usually used as maintenance in children (excluding neonates). This question specifically asks for a maintenance fluid regime, which should be 0.9% Normal saline + 5% Dextrose.

It is very important to remember a few critical points whenever there is a fever and a rash in a child to accurately reach a diagnosis. First, determine what type of rash is present, i.e. macular, maculopapular, vesiculaer, purpuric etc. Assess how severely ill the child is and if there are other systemic symptoms.

Hand, foot, and mouth disease is a viral illness that affects children. The lesions involve the hand, foot, and mouth. It is self-limiting. It is commonly caused by Coxsackievirus A16 (CA16) and enterovirus 71 (EV71). It is very contagious among children.

Clinical features :

• Low-grade fever

• Malaise 

• Loss of appetite

• Sore throat

• Oral ulcers – may be on the buccal mucosa, tongue, or hard palate

• Followed later by vesicles on the palms and soles of the feet

• Small erythematous macules on palms and soles of the feet which progress to grey vesicles and may last for up to 6 days.

A barking cough is a clincher that tells you this is croup. Croup is a form of upper respiratory tract infection seen in infants and toddlers with peak incidence at 6 months to 3 years. Parainfluenza viruses account for the majority of cases (more than 80% of cases). The illness usually lasts around 3 to 5 days involving features of stridor, barking cough, fever (mild temperature), and coryzal symptoms.

Giving a single dose of oral dexamethasone (0.15mg/kg) to all children regardless of severity is recommended. In this stem, it is clear that he has mild croup. Mild croup is largely self-limiting but treatment with a single dose of oral dexamethasone would be of benefit.

Emergency treatment of croup involves giving high-flow oxygen and nebulized adrenaline. In this stem, his oxygen saturation is not low and thus he will not benefit from oxygen. Nebulized adrenaline (epinephrine) is usually reserved for patients in moderate-to-severe distress which in this stem the child is not.

Scarlet fever is caused by group A Streptococcus pyogenes.

The diagnosis here is breath-holding spells. This usually occurs in young children when they are upset and can be precipitated by trauma or when separated from their parents.

Anything that may upset a child including injury from falling down These children stop breathing for some time, they may turn blue or have little jerks of the limbs. After some time they spontaneously start breathing. They become completely fine after an hour. Treatment is not necessary. Usually just reassure parents.

Jaundiced is a hint towards liver dysfunction. Together with respiratory symptoms are suggestive of alpha-1 antitrypsin deficiency Alpha-antitrypsin deficiency This is an inherited condition that is associated with the early development of emphysema.

Children older than 2 years of age with primary bedwetting and daytime symptoms can be reassured. If still persists, can refer to secondary care or enuresis clinic.

The likely diagnosis here is a perforated hymen given the history of horse riding. There is no need for general anaesthesia at this point as she is only having red staining. One must remember that general anaesthesia has its complications and should not be used without reason.

An attempt to examine the clinic without anaesthesia would be the preferred method. It is extremely important to reassure, explain the examination, and show equipment as this will help diminish the fears and anxiety of the child. Ensure the child's privacy and stop the examination at any time provided the child indicates discomfort or withdraws permission to continue. When should we consider general anaesthesia If the child refuses the examination and conditions requiring medical attention, such as bleeding or a foreign body, are suspected.

Pyloric Stenosis:

Projectile non-bilious vomiting; Age group: 3-8 weeks; Olive-sized abdominal mass.

The child will feel hungry and want to feed despite constant vomiting

Diagnosis: Abdominal ultrasound

Treatment: Metabolic alkalosis – correct electrolyte imbalance + dehydration.

Then referral to paediatric surgery (pyloromyotomy) + nasogastric tube. Occasionally, the exam may show an abdominal X-ray and ask you for the diagnosis.This is typically what an abdominal X-ray of an infant with pyloric stenosis will look like.

Normal capillary refill time is usually less than 2 seconds. Prolonged capillary refill time is a sign of clinical shock. Intravenous fluid should be started immediately.

A 2-year-old child can have a heart rate anywhere between 80 to 120 beats per minute so option D is wrong.

It is also normal to have a respiratory rate between 20 to 30 breaths per minute in a 2-year-old child thus option B is wrong.

Passing large amounts or increased frequency of watery stool is not a clinical sign of dehydration.

Group B streptococcus (GBS) infections are the most common cause of early-onset neonatal infection. This is supported by the given risk factor of the prolonged rupture of membranes. Group B streptococcus is the infection caused by the bacterium Streptococcus agalactiae.

Reassure the parents that many children younger than 5 years of age wet the bed, and this usually resolves without treatment.

This is defined as primary nocturnal enuresis.

Reassurance may be all that is required.

Remember the definitions

• Primary nocturnal enuresis refers to children that have never been dry for more than 6 months

• Secondary nocturnal enuresis refers to the re-emergence of bedwetting after a period of being dry for at least 6 months.

Reflux nephropathy is a progressive lesion caused by repeated kidney infections. It is due to urine flowing backward from the bladder to the kidneys (vesicoureteral reflux). It is almost always found in childhood in the context of an abnormal urinary tract like in this stem.

Breastmilk jaundice infants usually become jaundiced in the second week of life. They are usually well and the jaundice resolves within 6 weeks but may also continue up to 4 months.

Breast milk jaundice is the most common cause of prolonged unconjugated hyperbilirubinaemia.

It affects 15% of healthy breastfed infants. The diagnosis and occasional treatment is to stop breastfeeding (and give formula) for 24 hours.

When bilirubin is checked again, a significant fall would help diagnose this condition, after which the infant may then be safely breastfed. Although interrupting breastfeeding for 24 hours (and giving formula instead) is the most rapid way to reduce bilirubin levels, in the majority of infants, interrupting breastfeeding is not necessary or advisable.

The best option in this scenario would be to continue breastfeeding.

In this case, the main clinical concern is the profound dehydration of the poor baby. There are multiple possible causes. The emphasis here is to ensure a safe INITIAL option as these cases will likely be cared for in the neonatal intensive care unit. The possible causes include sepsis and diabetic ketoacidosis.

Option B 0.9% sodium chloride with potassium chloride is the correct answer here as it is the safest option and addresses the potassium disturbance. At a GP doctor level this would be a safe option provided the correct protocols are followed for prescribing fluids in neonates.

Option A. 5% dextrose is incorrect as this would likely worsen the electrolyte disturbance by diluting the intravascular space from further electrolytes.

Furthermore, if there is diabetic ketoacidosis going on then extra glucose will make this much worse.

Option C. 0.45% sodium chloride is incorrect as at the level you are expected to be working, you would never be in a position to start this.

Only a senior colleague would be able to prescribe this. It may be helpful to know in principle/theory the reasons for giving this fluid in special cases.

Option D. 10% dextrose is incorrect for the same reason as option A.

7.5% sodium chloride is incorrect for the same reason as option C.

Please see Q-34

Jaundice in newborns is an important topic within the paediatric section for exam. The signs and symptoms here along with prolonged jaundice are suggestive of biliary atresia.

Biliary atresia causes obstructive pictures where stools are pale and the urine becomes dark which is exactly what is seen here. Failure to thrive is a result of poor absorption of long-chain fats. The spleen becomes palpable after the 3rd or 4th week in biliary atresia.

The liver may become hard and enlarged as well. Kasai procedure (hepatoportoenterostomy) has a good chance of restoring the flow of bile to the bowel but that is only if the procedure is done early.

Late presentations like this one (e.g. more than 100 days), are unlikely to have a successful Kasai procedure due to advanced liver damage and cirrhosis. This baby would likely need a liver transplant in the first year of life.

This is a diagnosis of pyloric stenosis. Note that the clue does not always have to be “projectile vomiting”. It can also be described as “forceful” and is non-bilious. The abdominal ultrasound with a thickened pylorus or “an olive-shaped mass” on palpation are other clues. Note also the age range: the child usually would be older than 3 weeks.

Pay attention to what the question is asking in exam. Here they would like to know the definitive (gold standard) for management. If they had asked what is the most appropriate “next step” then the answer would be option C (usually appear one or the other in answers, or combined).

Pyloric stenosis :

- Projectile non-bilious vomiting

- Age group: 3-8 weeks

- Olive-sized abdominal mass

- The child will feel hungry and want to feed despite constant vomiting

Diagnosis:

- Abdominal ultrasound

Treatment:

- Metabolic alkalosis – correct electrolyte imbalance + hydration

- Then referral to paediatric surgery (pyloromyotomy) - first line + nasogastric tube.

This is a frequent paediatric topic on exam. This is a case of non-accidental injury. Since child abuse is suspected by the mother’s boyfriend, it is unsafe to let the boy remain in his care. Therefore, admit the child to ensure his safety and then refer him to social services.

The clinical features described are consistent with urinary tract infections for which a clean catch of urine is the next best action. Special arrangements may be needed for collecting a sample from a child. (Clean catch, catheter, or suprapubic aspiration are methods used that reduce the risk of contamination)

Routine investigations that are done in urinary tract infections are:

- Dipstick analysis of urine

- May treat as bacterial if there are positive results for nitrite and/or leukocytes

- Urine microscopy

- Leukocytes indicate the presence of infection

- Urine culture.

Paediatric immunization case stems would be similar to the one above. The history of a fever is the reason we should postpone the child’s MMR vaccine.

If the child had a minor illness without the fever, they could still go ahead with the vaccine.

In this case, stem, the patient is showing no indication of neurological deficit and is asymptomatic. According to the revised NICE guidelines in 2014, CT and MRI are necessary.

By protocol, the child having fallen from such a height should be admitted and observed at least for 4 hours (NICE guidelines) in addition to the facial x-ray to rule out any zygoma fractures (due to swelling and tenderness in the cheek).

For exam if the child is doing well, asymptomatic, with GCS 15/15 and no changes in neurological functions within 1 hour of admission, go for the investigation with the least harm first.

Head injuries in Paediatrics :

- Child playing or in an athletic match

- Head / facial trauma

- Swelling, bruising on the face only.

Diagnosis:

- For this case stem: Facial x-ray (initial)

– If fractures are detected then do CT

- CT head (definitive)

- If on arrival scan within 1 hour if the child has GCS <14, neurological deficits according to guidelines

Treatment (for this case stem): Observation & Analgesia for pain.

This child is 6 years old with primary bedwetting (without daytime symptoms). Treatment with an enuresis alarm (first-line treatment) in combination with positive reward systems (for example star charts) would be the most appropriate.

Remember, rewards should be given for agreed behaviours such as helping change the sheets or urinating in the toilet before bed rather than having a dry night. What the mom is doing in this stem is correct.

If the mother’s onset of rash is > 7 days before delivery or > 7 days post delivery, varicella zoster immunoglobulin (VZIG) and isolation is not necessary for the neonate; just observation.

This is a diagnosis of Henoch-Schonlein Purpura (HSP). Take note of the child’s age.

EXAM will usually have their case stems present at less than 10 years of age (peak of 4-6 years). In haemolytic uraemic syndrome, the age group would be much younger 3 months to 3 years.

Also, be sure to be able to differentiate rashes for exam.

In HSP, the clue is purpura over extensor surfaces. For it to be idiopathic thrombocytopenic purpura, the case stem will provide clues to previous upper respiratory tract infection and/or low platelet count.

Henoch-Schönlein purpura (HSP) :

- Purpura (non-blanching) over buttocks and extensor surfaces

- Arthralgia (especially in the knees and ankles)

- Abdominal pain

Diagnosis:

- Mainly a clinical diagnosis

- Look for elevated ESR, IgA

- Raised creatinine; labs consistent with nephropathy

Treatment:

- Self-limiting; conservative management

- NSAIDs for arthralgic pain  beware of choosing this option if case stem has impaired renal involvement!

- Corticosteroids can improve associated arthralgia and the symptoms associated with gastrointestinal dysfunction.

Most cystic fibrosis is picked up on the heel prick test. However, there is a minority like in this case where they present with clinical features later in infancy or even later in childhood.

They would subsequently undergo a sweat test to confirm the diagnosis. The symptoms vary from child to child, but as the condition gets worse over time, the lungs and digestive system become increasingly damaged. Abdominal distention occurs from malabsorption. Faltering growth is seen with untreated cystic fibrosis.

Once diagnosis is made and effective nutritional intake is given including enteric-coated pancreatic replacement therapy, their growth starts to pick up again.

Pneumonia is not entirely wrong as he is probably suffering from pneumonia as well. However, since cystic fibrosis often presents with recurrent and persistent bacterial chest infections and the stem gives a history of abdominal distention and suboptimal growth, cystic fibrosis would be a better pick.

This is typical of physiological jaundice. It begins at 2 to 3 days old and disappears towards the end of the first week (in this case day 9) Breast milk jaundice usually presents in the first or second week of life, and can persist for as long as 12 weeks (usually up to 6 weeks) before spontaneous resolution.

It is considered to be a form of physiological jaundice. Galactosaemia and hypothyroidism usually have jaundice that lasts longer than 14 days. Prolonged jaundice is a term used for jaundice lasting longer than 14 days.

The clincher here is drooling of saliva. If you find any questions with a child with drooling saliva, this is likely acute epiglottitis.

Summon the most experienced anaesthetist to intubate before obstruction occurs.

This is a very vague question. The stem does give some hint of a diagnosis of cystic fibrosis given the history of the recurrent chest infections. It is important to note that the diagnosis of cystic fibrosis is usually made within the first 6 months of life, however over the past decade the diagnosis of cystic fibrosis later in life has been reported with increasing frequency.

Organisms which frequently colonise CF patients:

- Staphylococcus aureus

- Pseudomonas aeruginosa

While it is a known fact that Pseudomonas infections are known as opportunistic meaning the bacteria only cause infections when a person has CF or another condition that weakens the body's immune system, it is not actually the most frequent chest infection in cystic fibrosis patients.

Pseudomonas is one of the most common bacteria found in people with CF but Staphylococcus aureus (SA) is the most prevalent organism infecting the respiratory tract of CF children, and remains the second most prevalent organism in CF adults.

Cystic fibrosis in childhood and early teenage years - Staphylococcus aureus most common - Haemophilus influenza second most common.

Cystic fibrosis in teenage years and adult life Pseudomonas aeurginosa most common.

This is a diagnosis of simple febrile seizure. Under current guidelines, this is a first occurrence, therefore only option A is needed. There are no indications that there is meningitis in the stem and also the patient is currently in a postictal state (“drowsy); therefore, lumbar puncture is not appropriate at this time. If this is only a first-time event, both options D and B are not necessary unless indications point to a more serious pathology (haemorrhage, status epilepticus).

Diazepam under current guidelines is useful as a preventative measure if febrile seizures occur frequently or if the seizure has not stopped while in an Emergency.

Febrile seizures are a clinical diagnosis but other pathology must be ruled out.

Other investigative steps include:

• Blood and urine test to rule out infection

• Consider lumbar puncture for meningitis if it is highly suspicious only.

The main debatable point in this question is if we need to send this child to a child psychologist or a psychiatrist. A psychiatrist is a person that has a medical degree and who can prescribe psychotropic medication. A psychiatrist would be involved in complicated care involing prescriptions and medication management.

Since this child is clearly in need of talk therapy to help him come to terms with his newly diagnosed and chronic disease, referring him to a psychologist is the correct choice.

The signs and symptoms here along with prolonged jaundice are suggestive of biliary atresia. Biliary atresia causes obstructive pictures where stools are pale and the urine becomes dark which is exactly what is seen here.

Galactosaemia may cause prolonged jaundice too but does not present as an obstructive picture with stools being pale and dark urine.

Glucose-6-phosphate dehydrogenase (G6PD) deficiency like other haemolytic diseases has an onset of jaundice usually less than 24 hours Haemolytic disease of the newborn (rhesus) and congenital viral infection usually has an early onset of jaundice and is not prolonged.

For the exam, it is important to memorize the important developmental milestones. The questions that come up for development are similar to the ones above. A scenario is presented where the mom is concerned and you would be told to give the best advice/management.

You must answer accordingly depending on the scenario. This child is on par with her developmental milestones. While running and speaking in sentences start at 18 months, the child has up till at 2 years old to progress to that stage. If she still cannot perform these two tasks at 3-4 years old, then we would need to re-assess.

This is a classic presentation of pyloric stenosis on exam. “Olive-sized abdominal mass” is a classic phrase used in describing pyloric stenosis.

This patient has an innocent murmur. Synonyms for an innocent murmur include functional murmur and physiologic murmur. It is a benign murmur that is inconsequential. It usually disappears as the child grows. Innocent heart murmurs are picked up between infancy and early childhood, most commonly between the ages of 3 and 8 years.

The chest wall of children is thinner and their great vessels are more angulated which results in murmurs becoming more audible. It is heard during routine check-ups or incidentally when the child presents for other issues. Acute illness, such as fever, can increase the intensity of the innocent murmur since there is an increase in blood flow.

This may well disappear when the child has recovered. They are usually 1/6 or 2/6 in intensity, rarely they are 3/6 but never louder.

There is a good mnemonic to remember for the hallmark of an innocent murmur.

It can be represented by the letter “S”

– InnoSent murmur

- ASymptomatic

- Soft-blowing murmur

- Systolic murmur 

- Left Sternal edge

This infant has a ductus arteriosus that has not closed yet. The ductus arteriosus is a normal vascular connection during intrauterine life that connects the pulmonary artery to the descending aorta. It normally closes within 48 hours after birth in term babies.

In preterm infants, such as in the above stem, the ductus arteriosus may remain open which is termed patent or persistent ductus arteriosus (PDA).

The type of murmur that is heard in a PDA is known as a machinery murmur. It is the hallmark physical finding of a PDA. A machinery murmur is a continuous murmur and is best heard in systole beneath the left clavicle. The murmur continues into diastole.

Knowledge of the traffic-light system is important. Any child with fever and any of the symptoms or signs in the red column should be recognized as being at high risk. In this stem, a respiratory rate of more than 60 breaths/minute is very concerning.

Micturating cystourethrogram (MCUG) should be organized as she has not responded to antibiotics within 48 hours. If MCUG is indicated, it is usually performed on the second day after prophylactic antibiotics have been given. Contrast dyes are introduced into the bladder through the urethral catheter to visualize the bladder, and urethral anatomy and detect vesicoureteral reflux. Ultrasound needs to be performed but this should be done as an urgent test rather than at 6 weeks.

A dimercaptosuccinic acid (DMSA) scan should also be requested. However, this is not done urgently and would be booked for 4 to 6 months after the acute infection. There is no value in repeating a mid-stream urine for culture and sensitivity at this stage.

Bronchiolitis Management:

1. Oxygen inhalation

2. Nasogastric feeding

DON’T USE: i) bronchodilator ii) steroid iii) antibiotics routinely.

This is a case of epiglottitis. In given case urgent intubation is needed to secure airway to prevent closure of airway. Call anesthesiologist as an expert to intubate.

Full course of DTP

Skipping meals, unhappy at school these are psychological issues. So he should be referred to a clinical psychologist.

Diagnosis is breath-holding spells. Breath-holding spells are the occurrence of episodic apnea in children, possibly associated with loss of consciousness and changes in postural tone. Breath-holding spells occur in approximately 5% of the population with equal distribution between males and females.

They are most common in children between 6 and 18 months and usually not present after 5 years of age. They are unusual before 6 months of age. A positive family history can be elicited in 25% of cases. Breath-holding spells usually occur when a young child is angry, frustrated, in pain, or afraid.

Probable diagnosis is infantile pyloric stenosis.

Pyloric stenosis usually affects babies between 2 and 8 weeks of age but can occur anytime from birth to 6 months. Slight hematemesis of either bright-red flecks or a coffee-ground appearance is sometimes observed. Preferred investigation is ultrasonography.

If US can not establish the diagnosis we go for a barium meal and if both are non-diagnostic we go for an endoscopy. As the question wants most likely investigation it means the definitive or gold standard investigation which is upper GI endoscopy.

If jaundice lasts past the first week of life in a breastfed baby who is otherwise healthy, the condition may be called "breast milk jaundice.” This is predominantly unconjugated hyperbilirubinaemia. The cause may be actors in a mother's milk that helps a baby absorb bilirubin from the intestine.

Intravenous antihistamines are used as an adjunct to adrenaline in the emergency treatment of anaphylaxis and angioedema. Parenteral antihistamine is not recommended in less severe allergic reactions (other than anaphylaxis).

Following are the indications of adrenaline in anaphylaxis:

1. Horseness of voice

2. Wheeze

3. Shortness of breath

4. Shock

5. Stridor

6. Swelling of the tongue and cheek

7. Facial swelling 

Rh incompatibility is a condition that occurs during pregnancy if a woman has Rh-negative blood and her baby has Rh-positive blood.

Patent ductus arteriosus (PDA) is a medical condition in which the ductus arteriosus fails to close after birth: this allows a portion of oxygenated blood from the left heart to flow back to the lungs by flowing from the aorta, which has a higher pressure, to the pulmonary artery.

Continuous mechinary murmur is a well-known feature of PDA. Other features are bounding pulse, widened pulse pressure, increased cardiac output, differential cyanosis (cyanosis of the lower extremities but not of the upper body).

OF usually does not become symptomatic at birth or early infancy and given features (central cyanosis and clubbing with the murmur of right ventricular outflow obstruction i.e. ejection systolic murmur in 2nd left ICS) are well-known features of TOF.

Tetralogy of Fallot = 1. VSD + 2. Overriding of the aorta + Right ventricular outflow tract obstruction + Right ventricular hypertrophy.

Points in favour of diagnosis:

i) Pain in joints (knee and hip). In osteomyelitis, there is no joint pain but pain in other parts of the bone like the shaft.

ii) Fever

iii) Painful restricted movement of joint

The diagnosis is celiac disease. It is not cystic fibrosis as lung problem is most commonly seen in cystic fibrosis along with GI problems like indigestion.

Suggestive lab. Values: WBC=25 (leucocytosis), Hgb 10.9 (usually patient is not anaemic), Platelets 45 (thrombocytopenia-leading to easy bruising), Positive Paul bunnel test.

Minimal change glomerulonephritis.

Podocyte fusion on electron microscopy is diagnostic of minimal change glomerulonephritis.

Febrile convulsion. Points in favour: seizures in the presence of high fever. The same previous illness indicates seizures during fever which goes against epilepsy.

Though usually febrile convulsion doesn’t tend to recur but it can recur as well. Epilepsy has no relation to fever but is due to pathology in the brain.

Congenital hypothyroidism (CH) is inadequate thyroid hormone production in newborn infants. It can occur because of an anatomic defect in the gland, an inborn error in thyroid metabolism, or iodine deficiency.

FTT (failure to thrive), constipation, macroglossia, and prolonged neonatal jaundice are well-known features of congenital hypothyroidism.

Vocabulary consists of only 2 meaningless words. At 15 months the child can clearly say 5 words and his first meaningful clear word he says at 12 months.

Why not duodenal atresia?

Pyloric stenosis is much more commoner than duodenal atresia; in duodenal atresia the vomitus should contain bile, which is not the case in pyloric stenosis.

In epiglottitis there is no cough and a bark-like cough is diagnostic of croup. High fever, and bark-like cough in a child suggest croup which is treated with corticosteroids.

Normal

Index and middle finger compression

Measles. Rash on the buccal mucosa (koplicks spot) are characteristic of measles.

Tricuspid atresia

PDA (patent ductus arteriosus)

The diagnosis is PDA which is more common in premature babies.

Serum electrolytes.

In hypoglycemic seizures there is loss of consciousness but in the given case the girl didn’t lose consciousness. Here likely cause may be electrolyte imbalance for which serum electrolytes should be done.

Give complete DPT vaccine course

Behavioral training. In diurnal enuresis first behavioural training is tried and if fails pharmacotherapy is given (oxybutynin).

Prophylactic antibiotic.

For repeated UTI prophylactic antibiotic should be given.

First use emollient, then steroid. Emmolient 30 minutes before steroid.

Synchronized DC cardioversion.

As the patient is in probable hemodynamic instability (suggested by cool peripheries due to low BP or inadequate CO) we should go for DC cardioversion. The probable diagnosis is SVT.

H/O living with stepfather, multiple bruises, fever and fractures are suggestive of Non accidental injury / battered baby syndrome.

Stress-like surgery resulted in the release of stress hormones that is cortisol in excess than normal and caused transient hyperglycemia as evidenced by glycosuria. This is a normal phenomenon and when stress is over cortisol level comes to normal and hyperglycemia and glycosuria resolve.

Refer urgently to a surgeon. Probable torsion of testis. Urgent referral to a the surgeon is indicated.

Index and middle fingertips of one hand

Skeletal survey is a series of x-rays which is usually used in NAI (non-accidental injury) after survey should think of child protection.

Mumps.

C/F: Prodromal malaise, increased temperature, painful parotid swelling, becoming bilateral in 70%.

Primary obesity.

People are generally considered obese when their body mass index (BMI) is over 30 kg/m2. Obesity is most commonly caused by a combination of excessive food intake, lack of physical activity, and genetic susceptibility. A few cases are caused primarily by genes, endocrine disorders, medications, or mental disorders.

Cushing’s syndrome.

Renal transplant--> immune suppression is needed-> exogenous steroid-->cushing syndrome. short stature--> if steroids are used at an early age then they cause premature fusion of growth plate/calcification.

It will point toward acidosis and indicate whether assisted ventilation is needed or not.

Peak flow rate diary.

Peak flow rate diary shows diurnal variation. This diary shows when the bronchoconstriction remains worse and guides the use of bronchodilators prior to that time.

Deep jaundice at 6th week with pale stools suggests obstructive jaundice. So most likely diagnosis here is biliary atresia.

This is NAI (nonaccidental injury). So the a child cannot be handover to the risk again and should be admitted to protect him from further the injury done by the mother's boyfriend while serial x-rays and relevant investigations were done and asked for the child protection unit’s help.

Defer immunization for 2 wks.

Proceed with standard immunization schedule.

Two words joining can be done in 2yrs and inability to form a sentence in 18 months is quite normal. So the option is reassurance.

If there was features of strangulation we would go for emergency herniotomy. But as only irreducible we shall proceed to elective herniotomy.

At 12 month one word should be said clearly, in 8 months child can sit independently, smiles at 2 months and plays with toys since early infancy. So she needs to assess developmental milestones.

Spirometry is the preferred initial test (if available) to assess the presence and severity of airflow obstruction less effort dependent and more repeatable though less applicable in acute severe asthma.

Before 5 years of age enuresis is considered normal and reassure that in most cases it resolves within 5 yrs of age without any intervention.

IV fluids

Tourette’s syndrome.

Tourete’s syndrome may have motor tics like blinking, facial grimacing, shoulder shrugging.

Other complex motor tics may be sniffing, touching objects, hopping, jumping, bending or twisting. It has vocal tics like throat clearing, sniffing, grunting or barking and more complex like coprolalia (uttering socially inappropriate words) or echolalia (repeating the word or phrase of others).

Arrange a hearing test.

Normal motor milestones indicate normal development but unable to respond to loud noise at 6 months may indicate deafness.

Biliary atresia.

Increasing jaundice at this age with failure to thrive, enlarged liver and scratches (itching) indicate cholestatic jaundice occurs likely from biliary atresia.

Duchenne’s MD

Usually occurs below 10 years of age. The characteristic rash and lab findings match with HSP.

Acute epiglottitis.

Drooling of saliva and stridor along with thumb sign in neck X-ray are features of acute epiglottitis.

Refer to ENT surgeon.

Probable enlarged adenoid.

Reassurance.

A case of mumps. Self-limiting condition.