Paediatrics Flashcards
A 14-year-old girl comes to see you as she has not had her periods yet. You note that her breasts are stage II and her nipples are set lateral to the mid-clavicular line. She has no pubic hair. Her weight is on the 50th centile but height is on the 9th centile. Her parents are both of average height. What is the most likely diagnosis?
a) Turner’s syndrome
b) Polycystic ovarian syndrome
c) Anorexia
d) Constitutional delay
e) Underlying undiagnosed chronic illness
A
Turner’s syndrome (45, XO) often goes undiagnosed in women. It is associated with neonatal hand and foot lymphoedema, webbing of the neck, short stature, wide-spaced nipples, congenital heart defects (co-arctation of the aorta), delayed or absent puberty, and infertility.
PCOS is unlikely as she hasn’t started puberty.
Constitutional delay is more common in males and is the isolated finding of delayed skeletal growth (e.g. height).
A 2-year-old child is referred to you by the GP because he has not started walking. His mother says that he can stand but cries to be picked up or sits down shortly. His older sister was walking by 14 months. You note that he is talking well with short two to three word phrases. He is able to build a tower of six blocks. What is your management plan?
a) Advise mum to work harder at giving him independence and follow up in 4 months
b) Request blood tests including a creatinine kinase
c) Refer for physiotherapy
d) Reassure and discharge as his development is normal
e) Refer to orthopaedics
B
At 2 years old, this is delay in gross motor skills without other delays. Muscular dystrophy is suspected. This usually presents with clumsiness, and a waddling gait.
If CK is raised, a muscle biopsy can confirm the diagnosis.
Diagnosis should be confirmed before referral to PT. Referral to orthopaedics would be appropriate in developmental dysplasia of the hip, but this should be confirmed first with USS.
You see a boy in outpatients whose parents are concerned he is not talking yet. You do a developmental assessment and find he is walking well and able to build a tower of three blocks. He will scribble but does not copy your circle. He is able to identify his nose, mouth, eyes, and ears, as well as point to mummy and daddy. You do not hear him say anything but his parents say he will say a few single words at home such as mummy, daddy, cup, and cat. He is a happy, alert child. Parents report him to be starting to feed himself with a spoon and they have just started potty training but he is still in nappies. What is the child’s most likely age?
a) 12 months
b) 15 months
c) 18 months
d) 2 years
e) 2.5 years
C
This child is scoring 18 months old in all areas.
Gross motor: steady walking
Fine motor: scribbling
Speech and language: identifies four body parts, at least 10 words
Social and behavioural: feeds himself with a spoon, starting to potty train
A one-and-a-half-year-old Caucasian child is referred to paediatrics for failure to thrive. On examination, he is a clean, well-dressed child who is quite quiet and withdrawn. He is pale and looks thin with wasted buttocks. His examination is otherwise unremarkable.
His growth chart shows good growth along the 50th centile until 6 months followed by weight down to the 9th, height down to the 25th and head circumference now starting to falter at 1.5 years. What is the most likely cause of this child’s growth failure?
a) Coeliac disease
b) Neglect
c) Constitutional delay
d) Normal child
e) Beta thalassaemia
A
Coeliac disease is most likely as growth was normal until the age of weaning, 6 months. Wasted buttocks are also a classic sign of coeliac disease, as is his anaemia and malnutrition.
Neglect would require MDT input to diagnose, and physical illness should always be ruled out.
Constitutional delay is common in males, and is the isolated finding of skeletal growth delay (e.g. height).
Dropping centiles is never normal.
Beta thalassaemia is uncommon in Caucasians, and also should present around 6 months of age. Without transfusions, he’d unlikely survive to one-and-a-half years.
A 12-year-old boy presents to his GP with left-sided unilateral breast development at stage III. He is very upset as he is being bullied at school. His mother is worried as her friend’s sister has just been diagnosed with breast cancer and wants to know if he could have breast cancer. What is the management?
a) Refer for a breast ultrasound
b) Test sex hormone levels
c) Test alpha foetoprotein
d) Reassure and explain that this is a normal part of puberty; it will resolve but the other breast may enlarge transiently as well
e) Do a fine needle aspirate on his left breast
D
Normal puberty in boys starts from 9 to 13 years. Testicular volume increases above 4mL, followed by penis enlargement, pubic hair growth, and lastly the growth spurt. Transient gynaecomastia is common, and doesn’t require treatment unless it doesn’t resolve.
You see a baby for the first baby check at 6 weeks. Mum reports no problems and he is feeding well. On examination you are unable to palpate the testicles on either side and do not feel any lumps in the groin area. He has a normal penis with no hypospadias and the anus is patent. He is otherwise a normal baby on examination. What is the most important diagnosis to rule out?
a) Klinefelter’s syndrome
b) Congenital adrenal hyperplasia
c) Undescended testicles
d) Virilised female infant
e) Testicular cancer
B
CAH is most commonly due to 21-hydroxylase deficiency. They often have ambiguous genitalia or bilateral undescended testes. They are at risk of a salt-losing adrenal crisis around 1 to 3 weeks of age, with vomiting, weight loss, and floppiness. If suspected, U and E, chromosomal analysis, and pelvic USS should be done.
Klinefelter’s syndrome (47XXY) typically presents as tall stature, delayed puberty, and mild learning difficulties; not undescended testes.
Undescended testicles are important to identify, but are only worrying if undescended by 2 years of age, as this increases risk of testicular cancer.
This could be a virilised female infant, but this would be secondary to another cause (e.g. CAH).
You see an 8-year-old boy in A and E who fell off his bike 3 days ago and scraped his left calf. The cuts are now angry, red, and painful. You note he is a big boy and plot his growth: his weight is on the 99th centile and his height is on the 75th centile. You note mild gynaecomastia and stretch marks on his abdomen, which are normal skin colour. His past medical history is unremarkable except for mild asthma. What is the most likely cause of his large size?
a) Cushing’s syndrome secondary to pituitary adenoma
b) Cushing’s syndrome secondary to becotide inhaler use
c) Obesity
d) His size is within the normal range and is a variant of normal
e) Liver failure
C
Advice concerning diet and exercise should be given. Children should eat a normal healthy diet (not restricted), and exercise regularly, to decrease weight as they grow.
Cushing’s syndrome would usually present with growth failure, but this boy is above average height, which is more in keeping with obesity.
A 16-year-old boy is brough to the GP by his parents. They are concerned he is the shortest boy in his class. He is otherwise well. His height and weight are on the 9th centile. His father plots the 75th centile and his mother on the 50th centile for adult height. On examination, his testicular volume is 8mL, he has some fine pubic and axillary hair. The rest of the physical examination is normal. On further questioning, you elicit from his father that he was a late bloomer and did not reach his full height until he was at university. What is the most likely cause of the boy’s short stature?
a) The 9th centile is a normal height and weight so there is nothing wrong with him
b) Growth hormone deficiency
c) Constitutional delay of growth and puberty
d) Underlying chronic illness should be sought
e) Anorexia
C
Constitutional delay is more common in males, runs in the family, and often presents with delayed puberty and growth spurt. It is an isolated skeletal growth delay.
This is not normal height for him given his parents’ height centiles.
This boy has started puberty, and is progressing normally, so it is unlikely to be growth hormone deficiency
A mother comes to see you with her 2-year-old daughter, Stacey, out of frustration that her daughter is so ill behaved. She does not know how to make her listen and is worried that she is going to get hurt. Yesterday she ran ahead and did not stop when her mother called to her. She ran into the street and was hit by a cyclist, but fortunately he was OK and Stacey had only a few cuts and scrapes and seems alright. On questioning, you hear other stories of a naughty child. She is active and eats well, feeding herself a lot now, but her mother does say she gets frequent coughs and colds. Her mother says that Stacey only says about 5-10 words and only she can understand what Stacey says. What is the best next management?
a) Ask the health visitor to visit mum for parenting advice and support
b) Order blood tests for full blood count to check for leukaemia as she has recurrent coughs and colds
c) Give Stacey a tetanus shot to cover her after her fall the day before
d) Refer for a hearing test
e) Tell Stacey that she needs to listen to her mother and not have any more accidents
D
Stacey has isolated speech delay. This, combined with her poor attentiveness, suggests hearing difficulty.
Commonly, this is because of glue ear, which is supported by her recurrent coughs and colds. These coughs and colds are not worrying, as they are not severe, and most children have on average 8 illnesses a year, so she doesn’t need testing for immune deficiencies.
An older mother books in to see you after attending the health visitor for a weight check at 2 months for her first child. She and her husband have had a hard time coming to terms with their daughter’s diagnosis of Down’s syndrome. She is relieved that the appointment with the cardiologists went well and the heart is normal, however they have a lot of trouble getting her to take the whole bottle. She was slow to regain her birth weight, and, looking at the plotted weight yesterday, she is not growing along her birth centile. The mother is worried she is not doing a good enough job She is not vomiting except for small possets after she feeds, is passing urine, and opening her bowels. The red book growth chart shows the weight to be falling off centiles. What is the most appropriate management?
a) Contact the cardiologists in light of the poor feeding and slow weight gain for a second opinion, because babies with Down’s syndrome are at high risk of heart problems and they may have missed it
b) Refer to the dietician for nutritional support
c) Replace the growth chart in their red book with a Down’s syndrome growth chart, reassure mum by re-plotting her growth and explain she is normal but arrange to review again
d) Tell the mother to try a different milk and come back in 2 weeks
e) Advise the mother to change to a faster flow teat for their bottles so that she takes her feed better
C
Children with Down’s syndrome have different growth patterns to other children.
Even if there was a lack of weight gain, it’s unlikely that this is to do with cardiology if they’ve given the all clear.
Dietician advice is warranted if there is still failure to thrive on the Down’s syndrome growth charts, but should be given with appropriate investigations for a cause.
Different milks are unlikely to help as there doesn’t appear to be an intolerance.
A faster teat could make things worse, as Down’s syndrome is associated with hypotonia and swallowing difficulties.
Which child should be moved to the resuscitation area for urgent management in A and E?
a) A miserable 2-year-old with fever and vomiting; temperature 38.5C, HR 150bpm, RR 42/m, CRT 2 - 3s; alert and clinging onto his father; just been given paracetamol and started on a fluid challenge with oral rehydration salts 5m ago by the triage nurse
b) A quiet 4-year-old brought in with an asthma attack, sitting upright with a RR 25/m, HR 162bpm, CRT 3s, subcostal recessions, and poor air entry on chest auscultation following a salbutamol nebuliser
c) An 8-year-old, known diabetic, brought in vomiting wh her glucose reader saying HI. She is able to tell you her history and has a HR 120bpm, RR 25/m, CRT <2s
d) An alert 3-year-old who has had a cough and cold for the past 3 days which is keeping him up at night, and mum noticed a rash on his neck and face which did not disappear when she pressed a glass tumbler against it. His temperature is 37.8C, HR 110bpm, RR 30/m, CRT <2s.
e) A 15-year-old, known to social services for a family history of domestic abuse, brought into A and E by her best friend after she admitted taking 20 paracetamol tablets 4 hours ago. She is alert but does not make eye contact, her HR is 98bpm, RR 20/m, CRT <2s
B
This child is tachypnoeic, tachycardic, and has circulatory compromise. She has not responded to initial treatment, so needs urgent management.
Child A is unwell but has only just been given initial treatment, so should be observed on his response before urgent management is required.
Child C may have DKA, but remains alert with no evidence of circulatory compromise.
Child D needs reviewing, however he is not septic, so is not an urgent case.
Child E is at risk of becoming very sick, but is currently stable.
A 4-year-old child has been losing weight recently and has been vomiting for the past 24 hours, unable to eat anything. His mother has brought him into A and E out of concern as he seems confused. The triage nurse has taken him to the resuscitation room and asked for your help. On examination he is drowsy, has a HR 150bpm, RR 60/m, CRT 5s. He has subcostal recessions and good air entry bilaterally with no added sounds. He moans when you examine his abdomen, but there are no masses. You put in a cannula and take bloods. The venous blood gas shows:
pH 7.12 PCO2 2.3kPa PO2 6.7kPa HCO3 15.3 mmol/L BE -8.6 Glucose 32.4mmol/L
What is the most likely diagnosis and what is the first management step?
a) Diabetic ketoacidosis, start an insulin infusion
b) Diabetic ketoacidosis, give a fluid bolus
c) Pneumonia, start IV co-amoxiclav
d) Ruptured appendix, give a fluid bolus and book the emergency operating theatre
e) Gastroenteritis with severe dehydration, give a fluid bolus
B
This child is tachycardic, tachypnoeic, and has circulatory compromise. His bloods show a metabolic acidosis and hyperglycaemia. This is DKA.
Treatment of DKA involves correction of dehydration and glycaemic index over 2 days to prevent risk of brainstem demyelination due to rapid shifts in CSF salts. Therefore, a fluid bolus is the first step, followed by rehydration, gradual insulin and potassium.
An 8-year-old known asthmatic is brought into A and E by ambulance as a ‘blue call’. He has been unwell with an upper respiratory tract infection for the past 2 days. For the past 24h, his parents have given him 10 puffs of salbutamol every 4 hours, his last dose being 90m ago. The ambulance staff have given him a nebuliser, but he remains agitated with a HR 155bpm, RR 44/m, and sub- and intercostal recessions. On auscultation, there is little air movement heard bilaterally. Saturations in air are 85%. He is started on ‘back to back’ nebulisers with high flow oxygen. How severe is his asthma exacerbation, and what other bedside test would support this?
a) Moderate, venous blood pH 4.4, gas PCO2 3.1kPa
b) Severe, peak flow <33% expected
c) Severe, venous blood pH 4.4, gas PCO2 3.1kPa
d) Life-threatening, peak flow <33% expected
e) Life-threatening, venous blood pH 4.4, gas PCO2 3.1kPa
D
Asthma is assessed by best or expected PEF. Though blood gas is useful, it is not used to assess exacerbation.
Life-threatening: SpO2 <92%; PEF <33%; silent chest; cyanosis; poor respiratory effort; hypotension; exhaustion; confusion
Severe: SpO2 <92%; PEF 33–50%; HR >125 (>5 years) or >140 (1-5 years); RR >30 breaths/min (>5 years, or >40 (1–5 years); can’t complete sentences in one breath or too breathless to talk or feed
Moderate asthma gives a PEF of 50-75%.
The A and E triage nurse asks you to look at a 3-year-old child with a short history of waking up this morning unwell with a cough and fever. She looks unwell, HR 165bpm, RR 56/m, sats 96%, temperature 39.3C, CRT 4s. She has a mild headache but no photophobia or neck stiffness and you notice a faint macular rash on her torso and wonder if one spot is non-blanching. You ask the triage nurse to move her to the resuscitation area and call your senior to review her. Fifteen minutes later your senior arrives and the spot you saw on the abdomen is now non-blanching and there is another spot on her knee. What are the three most important things to give her immediately?
a) High flow oxygen, IV fluid bolus, IV ceftriaxone
b) IV fluid bolus, IV ceftriaxone, IV methylprednisolone
c) High flow oxygen, IV ceftriaxone, IV fresh frozen plasma
d) IV fluid bolus, IV ceftriaxone, IV fresh frozen plasma
e) High flow oxygen, IV ceftriaxone, IV methylprednisolone
A
This is meningococcal sepsis.
Sick children should always be given oxygen. She shows signs of hypovolaemia, so a fluid bolus is necessary. IV ceftriaxone should be given as soon as a blood culture is taken.
Steroids have been shown to help in cases of meningitis with or before the first dose of antibiotics. In this case, there is no sign of meningitis, as she has no photophobia or neck stiffness, so steroids are not necessary.
Fresh frozen plasma is given if clotting results show disseminated intravascular coagulation, to replace clotting factors.
A 9-year-old boy is brought in by ambulance having been hit by a car while playing football in the street. You have been assigned to do the primary survey in resus when the ambulance arrives The patient is receiving oxygen, crying for his mummy and holding his right arm, but able to move over from the stretcher to the bed when asked. Which is the correct examination procedure?
a) The trachea is deviated to the right. On auscultation you hear decreased air entry on the left. Percussion note is hyper-resonant on the left. He is tachycardic and his heart sounds are muffled, heard loudest at the right lower sternal edge. You ask for a left-sided thoracocentesis.
b) You introduce yourself and tell him that you will be gentle but need to check that he is okay. You see his left wrist is deformed and swollen, and check the fingers, which are cool, and note the CRT is 4s. He is able to feel you touching him and moans when you examine the wrist. You call for an x-ray to assess the probable fracture in the wrist.
c) You introduce yourself and tell him that you will be gentle but need to check if he is okay. You listen for equal air entry and think there is decreased air entry on the left, but there is air entry on the right. He is tachypnoeic and has a pulse which is tachycardic. His CRT is 4s. You expose his abdomen and notice bruising and grazes to the left side. He moans as you palpate the left upper quadrant and has guarding. You ask for an IV cannula or IO needle and a 20ml/kg fluid bolus while organising an urgent CT chest and abdomen.
d) You introduce yourself and tell him that you will be gentle but need to check if he is okay. He is tachypnoeic. The trachea is deviated to the right. On auscultation you hear decreased air entry on the left. Percussion note is hyper-resonant on the left. He is tachycardic and his heart sounds are muffled, heard loudest at the right lower sternal edge. You ask for a left-sided thoracocentesis.
e) You listen for equal air entry and think there is decreased air entry on the left but there is air entry on the right. He is tachypnoeic and has a pulse which is tachycardic. His CRT is 4s. You expose his abdomen and notice bruising and grazes to the left side. he moans as you palpate in the left upper quadrant and has guarding. You ask for an IV cannula or IO needle and a 20mL/kg fluid bolus while organising an urgent CT chest and abdomen.
D
You should introduce yourself, and proceed in an ABC approach, with management of each section before repeating the full ABC examination, as in the fourth scenario.
The first scenario is incorrect because of lack of introduction.
The second skips ABC and goes straight to D.
The third ignores the problem identified in B (pneumothorax) and skips to correcting C.
The last is incorrect because you fail to introduce yourself, and fail to address the pneumothorax.
A 6-year-old boy with a history of anaphylaxis to peanuts is brought in by ambulance unconscious. He was attending a children’s birthday party. His mother says there was a bowl full of candy and he may have eaten a Snickers bar but she is not sure and she did not have his EpiPen with her. His face and lips are swollen and erythematous. He is still breathing, but weakly, and there is wheeze. His pulse is tachycardic and thready. Which type of shock is this?
a) Hypovolaemic
b) Distributive
c) Septic
d) Cardiac
e) Obstructive
B
Shock is inadequate perfusion of tissues insufficient to meet cellular metabolic needs. This child has anaphylaxis and has not had IM adrenaline to prevent capillary leakage into the airway. Oedema causes airway closure, and leakage causes intravascular hypovolaemia, or distributive shock.
Hypovolaemic shock is due to haemorrhage or dehydration.
Septic shock requires fever and infection, causing widespread vasodilation.
Cardiac shock is a result of cardiac insufficiency to meet the demands of the body. This is rare in paediatrics, but could occur due to congenital heart disease or Kawasaki’s disease.
Obstructive shock is due to blockage of blood flow from the heart due to cardiac tamponade, or tension pneumothorax.
A 13-month-old is brought in having had a blue floppy episode at home lasting 1 minute. While you are taking a history from the mother, you notice the baby has gone blue again and seems to be unconscious in her arms. You call for help and place the baby on the examination table. There is no obvious work of breathing. The nurses bring the crash trolley and give you a bag valve mask, which they are connecting to the oxygen. You give two inflation breaths but do not see the chest rise. You reposition the airway and this time the breaths go in. You feel for a pulse and there is none. When asked to do CPR, the nurse asks for direction on how many breaths and compressions you both need to do.
a) Two inflation breaths per 30 compressions
b) Two inflation breaths per 15 compressions
c) Continuous inflation breaths about 10-12 per minute and compressions 100-120 per minute
d) One inflation breath per five compressions
e) Two inflation breaths per five compressions
B
A 10-year-old child is brought in by ambulance with seizure activity. His mother reports it starting 30 minutes ago in his right arm and quickly became generalised tonic clonic jerking. She have him his buccal midazolam after the first 5 minutes and called an ambulance when he did not respond after another 5 minutes. The ambulance crew gave him rectal diazepam on arrival at 15 minutes into the seizure. He is receiving high flow oxygen via face mask and continues to convulse. The mother tells you that he was weaned from his long-term seizure medication, phenytoin, 2 weeks ago and that he has had a cold for the past 2 days. What is the next step in management?
a) Gain IV or IO access and administer lorazepam
b) Gain IV or IO access and administer ceftriaxone
c) Repeat the rectal diazepam
d) Gain IV or IO access and start a phenytoin infusion
e) Gain IV or IO access and start a phenobarbital infusion
D
This is status epilepticus, a continuous seizure lasting over 30m, due to either epilepsy or fevers.
If a seizure lasts more than 5 m, buccal or rectal diazepam should be administered, or IV/IO lorazepam if necessary. If seizure continues for another 10m, a second dose of benzodiazepines should be given, but no more than 2 can be given due to risk of respiratory depression. The next step is IV/IO phenytoin infusion over 20m, unless the child is already on phenytoin, in which case phenobarbital should be given. If still no response, intubation, ventilation, and rapid sequence induction is indicated.
A 3-year-old boy is brought in by ambulance fitting. You are assigned to get the history from the father. Harry is normally fit and well with no significant past medical history or allergies. He is up to date with his immunisations and has been growing and developing normally. His behaviour has been difficult for the past 2 weeks since the birth of his little sister. Mum has been unwell as she developed HELLP syndrome and was in hospital for a week following the delivery. Yesterday, he was quite unwell with a tummy bug, vomiting and had black diarrhoea. That evening they found a mess he had made in the bathroom with all of his mum’s things strewn over the floor including her tablets from the hospital. By that time, Harry was getting better so they did not think anything of it. Today he has been acting strangely and has been difficult to understand. He then became lethargic at about 4pm and started fitting 15m ago. What is the most likely diagnosis?
a) Paracetamol overdose
b) Aspirin overdose
c) Tricyclic antidepressant overdose
d) Bleach intoxication
e) Iron overdose
E
Iron overdose presents classically in 2 phases: early vomiting and diarrhoea due to gastric irritation (possible haematemesis or malaena), followed by 24h improvement, then deterioration with liver failure, drowsiness, and coma. Women with HELLP often have significant post-partum haemorrhage, and so require iron supplements.
A 6-year-old boy with a history of asthma and eczema is brought in to A and E from a local restaurant. He is on high flow facial oxygen with significant facial oedema and generalised erythema. On auscultation there is widespread wheeze for which the ambulance crew gave a salbutamol nebuliser. What is the next step in management?
a) Insert an IV line and give 10mg slow IV antihistamine
b) Insert an IV line and give 100mg slow IV hydrocortisone
c) Insert an IV line and give 200ug of 1:10,000 IV adrenaline
d) Give IM 1:1000 adrenaline, 250ug
e) Repeat the salbutamol nebuliser and call for an anaesthetist for intubation
D
As well as giving IM adrenaline, an emergency call to the anaesthetist should be made, and antihistamines and steroids should be given to prevent capillary leakage and reduce inflammation. Steroids will also help prevent late type IV hypersensitivity, so children should be observed and sent home with 2 further doses of prednisolone.
A newborn baby is born to non-consanguineous parents. She is noted to have puffy feet on her 1st day check. She weighs 2.0kg with widely spaced nipples and absent femoral pulses. You have asked your registrar to review her as you think she may have Turner’s syndrome. She agrees and asks you to send blood tests for karyotyping. Which is the chromosomal diagnosis of Turner’s syndrome?
A) 47XXY B) 45YO C) 46XY D) 46XX E) 45XO
E
47XXY is Klinefelter’s syndrome, presenting in boys with tall stature, delayed puberty, and gynaecomastia.
45YO is not compatible with life.
46XY and 46XX are normal karyotypes for boys and girls respectively.
A 15-year-old boy was diagnosed with Down’s syndrome at birth. He is short for his age, had cardiac surgery as a baby, has treatment for hypothyroidism, and now attends mainstream school with some support. His parents are enquiring now about what complications he faces. Which of these is not a recognised complication of Down’s syndrome?
A) Retinoblastoma B) Atrioventricular septal defect (AVSD) C) Type 1 diabetes D) Leukaemia E) Alzheimer's disease
A
Trisomy 21 has effects in many systems:
Cardiac (VSD, AVSD, Tetralogy of Fallot)
Endocrine (hypothyroidism, Addison’s disease, T1D)
Ocular (cataracts)
Malignancy (leukaemia)
GI (duodenal atresia, Hirschprung’s disease)
Musculoskeletal (atlanto-axial instability)
Neurological (Alzheimer’s, hypotonia, developmental delay, mean IQ=50)
A baby is born and you are asked to do the baby check at 6 hours post-natal age. You go to see the baby and mum states that he has not yet had a feed. You advise they stay in hospital until the feeding is established. This is the first child of non-consanguineous parents. On day 4, when you review the baby, he has still not had an adequate intake, has lost over 10% in birth weight and is markedly hypotonic. Your consultant asks you to request genetic testing for Prader-Willi syndrome. What is the inheritance of Prader-Willi syndrome?
A) X-linked B) Imprinting C) Monosomy D) Microdeletion E) Trisomy
B
A 5-day-old baby who is formula fed is on the neonatal unit being treated for sepsis secondary to an E. coli urinary tract infection. He has been on antibiotics for 5 days. He is still unwell and vomiting. The parents are consanguineous, and this is their first child. He has repeat blood and urine cultures taken. Urine reducing substances are positive. What is the most likely underlying diagnosis?
A) Fructose intolerance B) Galactosaemia C) Phenylketonuria D) Lactose intolerance E) Glycogen storage disease
B
Galactosaemia is due to a deficiency in galactose-1-phosphate uridyl transferase. It causes vomiting, cataracts, and recurrent E. coli sepsis.
Fructose intolerance can cause vomiting and metabolic acidosis, but without the E. coli sepsis.
PKU results in developmental delay and musty smelling urine.
Lactose intolerance presents with diarrhoea and poor weight gain, but is unlikely due to high levels of lactase at birth.
GSDs present with liver, muscle, and cardiac defects.
Consanguinuity is defined as between a couple that are second cousins or closer.
A 10-year-old boy is brought to the GP with tall stature. He is taller than his peers at school. His arm span is greater than his height, he has long, thin fingers, scoliosis, and pectus excavatum. He is also concerned that he gets short of breath at school during PE lessons. You refer him for an echocardiogram and chest x-ray. You make a clinical diagnosis of Marfan’s syndrome. What is the inheritance of Marfan’s syndrome?
A) X-linked recessive B) Autosomal recessive C) Sporadic D) X-linked dominant E) Autosomal dominant
E
A pregnant woman seeks advice from you regarding her condition and its impact on the pregnancy and risk to the baby. She has phenylketonuria (PKU) and has been on a phenylalanine-free diet for life. She was told that it was very important during her pregnancy to be compliant with this diet. She would like to know how the baby will be tested for the condition as she is aware that is an inherited condition. What is the initial investigation you will advise?
A) Serum tyrosine levels B) Genetic screening C) Serum phenylalanine levels D) Urine phenylketones E) Newborn blood spot screening
E
You see an 18-year-old boy who is the first child of his African parents and was born in Kenya before moving to the UK 1 year ago. He has white skin and pink irises. He was diagnosed with oculocutaneous albinism at birth. He has difficulty with his sight, but has recently developed a skin lesion on his face. His mother has brought him to his GP as it has recently started to increase in size. On examination, you note, is an elevated, 3 cm diameter lump on the left of his nose. It has irregular edges, is firm and immobile, and pigmented in areas. What is the likely diagnosis?
A) Benign naevus B) Scar from a healing wound C) Malignant tumour D) Abscess E) Wart
C
A benign naevus, or mole, would be static in size, smooth and regular edged.
There is no evidence of trauma or infection, so scars and abscesses would be unlikely.
A wart cause by HPV6 or 11 is possible, but rarely on the face and less likely given the medical background.
You are asked to see a 3-day-old baby on the post-natal ward. The baby was born at term and is the first child of consanguineous parents. The baby is drowsy and vomiting, with no fever, rash, or diarrhoea. On examination, the baby is noted to have ambiguous genitalia. You do some blood tests: WCC 5x10^9/L; CRP 2mg/L; Na 125 mmol/L; K 8 mol/L; glucose 1.7mmol/L. 17-OH level progesterone is low. You make a diagnosis of congenital adrenal hyperplasia. What is the best initial management plan?
A) IV hydrocortisone B) IV dextrose C) IV dextrose and IV hydrocortisone D) IV 0.9% saline E) IV 3% saline and IV hydrocortisone
C
CAH is a lack of the enzymes that metabolise testosterones to cortisol. Therefore, there is a build-up in testosterones (leading to masculinisation) and a lack of cortisol (salt-loss, low glucose, vomiting).
Glucose and steroid replacement is required. Sodium should not be replaced too quickly due to risk of central pontine myelinolysis.
A 10-year-old boy is brought to the paediatric outpatient department for a review of his height. He was found to be on the 0.4th centile, and his mid-parental height is the 98th centile. He also has widely spaced nipples, wide carrying angle, hypogonadism, pulmonary stenosis, and developmental delay. What is the most likely diagnosis?
A) Angelman's syndrome B) William's syndrome C) Turner's syndrome D) Prader-Willi syndrome E) Noonan's syndrome
E
Noonan’s syndrome presents similarly to Turner’s syndrome, but is of autosomal dominant inheritance, so can present in boys.
Angelman’s syndrome is loss of maternal 15q, causing developmental delay and happy demeanour.
William’s syndrome is an autosomal dominant condition with typical facial features, aortic stenosis, and developmental delay.
Prader-Willi syndrome is loss of paternal 15q, causing poor feeding and weight gain in the neonatal period.
A 2-week-old baby was referred to the prolonged jaundice clinic by the community midwife. The pregnancy was unremarkable, and she was born at term with no antenatal abnormalities on USS or blood serology. She is now 17 days old and has been jaundiced since day 5 of life, and never required phototherapy. She is breastfed and feeds 3-hourly for 20-25 minutes. She is afebrile and not lethargic. Her mother reports that the stools are pale and she has dark coloured urine. The bilirubin is 300 umol/L, and conjugated bilirubin 100 umol/L. What is the most important diagnosis to exclude?
A) Breast milk jaundice B) ABO incompatibility C) Biliary atresia D) Neonatal hepatitis E) Hypothyroidism
C
Jaundice is physiological in between 24h and 2 weeks.
If it is early, it is due to haemolysis (ABO incompatibility, rhesus disease, G6PD, spherocytosis). If it persists, unconjugated jaundice can be a result of infection, haemolysis, hypothyroidism, or galactosaemia. Conjugated jaundice, as here, is caused by biliary atresia or neonatal hepatitis.
A 1-day-old baby is on the post-natal ward. You are asked to review her as she is febrile and lethargic. On examination, she is tachycardic, has a capillary refill time of 3 seconds centrally, and reduced urine output. Her blood culture 24h later grows Gram-positive cocci. What is the most likely causative organism?
A) Streptococcus pneumoniae B) Staphylococcus aureus C) Group B Streptococcus D) Streptococcus biridans E) Group A Streptococcus
C
The most common causes of neonatal sepsis are GBS (Streptococcus agalactiae), E. coli, and Listeria monocytogenes.
A preterm baby is born at 25 + 6 weeks gestation. he is delivered by Caesarean section due to maternal pre-eclampsia. He is intubated at birth and given surfactant via the endotracheal tube. He is ventilated and commenced on IV dextrose. After 4 hours of age, he has increased work of breathing, with intercostal and subcostal recession, and a respiratory rate of 60/min. A CXR shows a ground glass pattern in both lung fields. He has no audible murmur. He is afebrile. You diagnose respiratory distress syndrome. What is the aetiological factor responsible for respiratory distress syndrome?
A) Pneumonitis B) Lung hypoplasia C) Surfactant deficiency D) Immature lung parenchyma E) Infection with group B Streptococcus
C
RDS is secondary to surfactant deficiency.
Pneumonitis is a result of meconium aspiration syndrome.
Lung hypoplasia is a result of renal problems or diaphragmatic hernia, where the underlying lung is unable to develop due to compression.
The lung parenchyma is structurally immature but functional.
There are no signs of infectious causes.
A pre-term baby is now 25 + 7 weeks corrected gestation. He is on the neonatal unit being cared for while his mother recovers on ITU after he was born secondary to an eclamptic seizure. He has been receiving formula milk as the parents have not consented to donor breast milk. He has been having bilious aspirates form his nasogastric tube, and today his abdomen is very distended and tense. He has had one episode of bloody stools. You are going to treat him for necrotising enterocolitis (NEC). What is the best initial management plan?
A) Conservative management, observe and reassess
B) Nil by mouth (NBM), IV antibiotics, and emergency exploratory laparotomy
C) IV fluids, emergency laparotomy, and bowel resection
D) IV fluids and IV antibiotics
E) NBM, IV fluids, abdominal X-ray, and surgical review
E
NEC is high risk in this situation due to the formula feeding, prematurity, and potential ischaemia at birth. Other risk factors include IUGR, polycythaemia, and PDA. Active management is necessary, including immediate review by the surgeon. An AXR showing intramural gas is pathognomic of NEC, and would lead to laparatomy and bowel resection. Initial management, however, is surgical review.
A 3-day-old baby is seen by the midwife for a routine post-natal review. She notices that he is very floppy and his mother has raised concerns about his poor feeding. He has a protruding tongue, epicanthic folds, low set ears and sandal gap toes. She explains to the parents that she thinks he may have Down’s syndrome and refers him to the paediatrician. What is the diagnostic test for Down’s syndrome?
A) Serum alpha fetoprotein, beta human chorionic gonadotrophin, oestriol, inhibin B) Gene mutation analysis C) Clinical diagnosis D) Karyotype E) FISH
D
A baby is born by emergency C-section due to foetal tachycardia. His delivery was uneventful and you are asked to see him 5 hours later on the post-natal ward. He has just taken his first feed and has been coughing and spluttering since. He had an episode with blue lips transiently and this has now improved; his oxygen saturations are 97% in air and he is pyrexial. On examination, you note other features including vertebral and limb abnormalities, imperforate anus, pan systolic murmur at the lower left sternal edge, and renal anomalies noted on antenatal scans. What is the most likely cause for his coughing episode?
A) Cleft palate B) Tracheoesophageal fistula C) Choanal atresia D) Incoordinated swallowing reflex E) Pneumonia
B
This is a VACTERL association (Vertebral anomalies, Anal imperforation, Cardiac problems, Tracheo-oEsophageal fistula, Renal problems, Limb defects).
Cleft palate gives a similar history but would be noticed on examination.
Choanal atresia is associated with CHARGE (Coloboma, Heart defects, Atresia choanae, Retardation of growth and development, Genitourinary abnormalities, Ear anomalies).
Incoordinated swallowing occurs in neurological or neuromuscular problems, but there is no evidence of these.
Pneumonia can occur due to a tracheooesophageal fistula, but there’s no evidence so far of this.
A term baby is awaiting his discharge check when you are called to see him at 10 hours of age. His mother reports that he has turned a dusky colour and is not as alert as he has been. On examination, he has central cyanosis, pulse 150 bpm regular, and both brachial and femoral pulses are palpable. He has normal heart sounds with no murmur. His oxygen saturations are 65% in air. What is the most likely underlying diagnosis?
A) Transposition of the great vessels B) Ventricular septal defect (VSD) C) Tetralogy of Fallot D) Aortic stenosis E) Coarctation of the aorta
A
This is congenital cyanotic heart disease, which can be transposition of the great arteries and Tetralogy of Fallot. The first presents as described, whereas the latter tends to present around 6 months with cyanotic spells. Transposition is only compatible with life in the presence of a mixing defect (VSD, ASD, PDA), so prostaglandins must be given to keep the duct open before surgical intervention.
VSD, aortic stenosis, and coarctation of the aorta are acyanotic conditions.
A 12-hour-old baby on the post-natal ward has just had a seizure lasting 2 minutes. It resolved spontaneously and was generalised in nature. Her mother had gestational diabetes and poor glucose control in pregnancy. The baby’s birth weight was 5kg. There were no abnormalities noted on antenatal USS or maternal serology. On examination, she has no dysmorphic features, and handles well. What initial blood tests would you do for the baby?
A) Liver function tests B) Boehringer Mannheim (BM) glucose C) Full blood count, CRP D) Electrolytes E) Calcium, magnesium
B
Infants of diabetic mothers are at risk of congenital malformations, hypoglycaemia, and macrosomia. A high level of glucose from the mother reduces the infant’s insulin levels, so leading to hypoglycaemia at birth.
Seizures can also be a result of infection or electrolyte disturbances, but this is less likely given the history.
A pregnant woman is admitted to the labour ward for an elective C-section at 38 weeks for her baby who had an antenatal diagnosis of gastroschisis. The paediatric team are called to attend the delivery. The baby is born in good condition with no resuscitation required. He is taken to the neonatal unit for further care. Which of these is a complication of gastroschisis?
A) Dehydration B) Hyperthermia C) Necrotising enterocolitis (NEC) D) Fluid overload E) Hypernatraemia
A
Gastroschisis is a rare condition in which the bowel herniates through the anterior abdominal wall. It is not covered by a membrane (as in exomphalos), so fluid, electrolyte, and heat losses are common (not overload, hypernatraemia, and hyperthermia). NEC is not more likely in children with gastroschisis.
You are called to see a baby who has just been born at 39 weeks’ gestation, as the midwife thinks he is small and should be admitted to the neonatal unit for his care. You review the baby. His weight is 1.8kg, below the 0.4th centile, and his head circumference is 35cm - 50th centile. He has no dysmorphic features. Which is the most likely cause of this IUGR?
A) Chromosomal anomaly B) Maternal smoking C) Congenital infection D) Maternal alcohol use E) Placental insufficiency
E
This child has asymmetrical IUGR, suggesting the insult occurred late in pregnancy with head growth sparing. Causes of placental insufficiency include maternal diabetes or pre-eclampsia, with effects on placental microvasculature. The other options would more likely cause symmetrical IUGR, present from the first trimester.
A mother brings her 4-week-old baby to see you for the third time. He was born at term by normal vaginal delivery with no complications. You started him on anti-reflux medicine last week but it has not helped. He is now vomiting his whole feed, and is becoming lethargic and passing less urine and stool. His mother says he is even hungry after he vomits. The practice nurse has weighed him and he has lost 200g since last week. His mother was breastfeeding him while waiting to be seen, and as you got to examine him, the baby has a large milky vomit, which cascades over the clinic floor. What is the most likely diagnosis?
A) Gastroenteritis B) Volvulus C) Necrotising enterocolitis (NEC) D) Intussusception E) Pyloric stenosis
E
Pyloric stenosis presents at 1 month, more commonly in males, with projectile vomiting of increasing size. It’s cause by hypertrophy of the pylorus, and requires surgical intervention.
Gastroenteritis presents with a short history of vomiting and diarrhoea, and can be caused by using unsterilised water to make formula.
Volvulus and intussusception cause colicky pain, absolute constipation, abdominal distension, and bile-stained gastric aspirates.
NEC causes distension with bile-stained aspirates, and is predominantly in premature infants.
A 15-month-old girl has come to see you with her father. The family are worried that she has had diarrhoea for more than a month, occasional vomiting and is losing weight. She used to be a happy, interactive baby, but now seems lethargic and miserable most of the time.. She has no significant past medical history, the rest of the family are well, and there is no history of travel. Her mother has well-controlled type 1 diabetes. The child’s weight at 6 months in the personal child health record (‘red book’) was on the 50th centile, but now is just below the 9th. What is the most likely diagnosis?
A) Crohn's disease B) Ulcerative colitis C) Coeliac disease D) Irritable bowel syndrome E) Giardiasis
C
Coeliac disease is an autoimmune sensitivity to dietary gluten causing villous atrophy of the small intestine. After weaning, presentation is of diarrhoea, distension, failure to thrive, and wasting.
Crohn’s disease and UC tend to present in teenagers or older.
IBS again presents much later, and is a diagnosis of exclusion.
Giardiasis would be more likely in a travel history or infectious picture.
A 13-year-old boy is brought to see you as he has been complaining of abdominal pain and is increasingly tired. On examination, you note some early clubbing, and erythematous palms. His conjunctivae look pale. he has one or two spider naevi on his chest. His abdomen is soft with mild tenderness in the epigastrium and right upper quadrant. The liver is palpable at 1cm and you feel the splenic tip. He has normal bowel sounds and no bruits. On slit lamp examination of his eyes, an amber ring is noted around the cornea. What is the most likely diagnosis?
A) Abdominal tuberculosis B) Cystic fibrosis C) Wilson's disease D) Acute hepatitis A E) Glandular fever
C
GI causes of clubbing are malignancy, inflammatory bowel disease, lymphoma, cirrhosis, and coeliac disease. The liver signs suggest cirrhosis, and the Kayser-Fleischer ring suggests copper overload, as in Wilson’s disease. This is an autosomal recessive defect in copper metabolism, leading to cirrhosis, neurological sequelae, renal problems, and cardiac complications. Haemolytic anaemia can also occur due to copper deposits in RBC membrane.
An 8-year-old girl is brought to see you, having not opened her bowels in 8 days. She complains of hard painful stools and recurrent abdominal pain for the past 6 months, but no vomiting. Her mother thinks that she is avoiding going to the toilet and reports that she has always been a bit irregular opening her bowels, averaging about twice a week. In her past medical history, she passed meconium on day 1 of life, and has had no significant medical problems. On examination, she is a well-looking, normally grown child. Her abdomen is soft, with a palpable, indictable mass in the left iliac fossa. The anus is normal, as are her lower limbs. What is the first step in management?
A) Encourage her to increase her fluid intake, dietary fibre, and exercise
B) Introduce scheduled toileting with a positive reward scheme such as a star chart
C) Refer for bowel disimpaction under anaesthesia
D) Start polyethylene glycol with electrolytes such as Movicol
E) Start a stimulant laxative such as senna
A
Constipation is usually idiopathic, and can be treated conservatively in the absence of red flags such as growth failure, late meconium passage (?Hirschsprung’s disease), distension, anal pathology, or neurological complications. Once stools are softer, scheduled toileting can be introduced to help overcome avoidance.
If conservative treatment doesn’t work, medical treatment could be considered, including non-stimulant laxatives such as Movicol. Senna is not useful as it can cause more pain, dependence, and perforation.
Surgical referral would be a last resort.
A 2-week-old baby is brought to accident and emergency by his parents because he has been intermittently inconsolable for the past 12 hours. He does not want to breastfeed and has vomited. The parents think his tummy is upset as he keeps drawing up his legs. He was born at term by normal vaginal delivery with no problems. On examination, the abdomen is distended and tense. He is crying and there is a swelling in his right groin area. You can hear active bowel sounds. What is the most likely diagnosis?
A) Appendicitis B) Right inguinal hernia C) Gastroenteritis D) NEC E) Sepsis
B
These symptoms are consistent with an incarcerated inguinal hernia and requires urgent surgical intervention. All inguinal hernias in neonates require surgical review, but umbilical hernias self resolve.
Appendicitis is unusual in the very young as the neck of the appendix is wider. It’s more common in 11-20 years of age.
Gastroenteritis in young infants is usually a result of unsterilised water for making up formula.
NEC is predominantly in premature babies.
Sepsis is unlikely due to the lack of infectious sequelae.
A 5-year-old girl is brought to accident and emergency with a 24-hour history of vomiting and diarrhoea and now her eyes and skin have gone very yellow. She has been taking oral rehydration salts and is still passing urine. She is normally healthy and there is no family history of jaundice. On examination, her heart rate is 130bpm, and respiratory rate is 26. She is alert, warm, and well-perfused. The chest is clear, heart sounds are normal, and the abdomen is soft with a 2cm liver edge. What should the management be?
A) Reassure and discharge home, to return if not keeping fluids down
B) Take bloods to test for liver function, hepatitis, and urea and electrolytes; inform the Health Protection Agency, and discharge home with follow-up to review results
C) Take bloods to test for liver function, hepatitis screen, and urea and electrolytes, and admit for IV fluids
D) Take bloods to test for liver function, hepatitis screen, and urea and electrolytes, and admit for observation with continued oral rehydration salts
E) Take bloods to check liver function and urea and electrolytes. If they are normal, discharge home with reassurance, but to return if not keeping fluids down
B
Hepatitis A is a notifiable disease. She should not be admitted to reduce spread to other patients, and is currently well-hydrated so doesn’t require IV fluids.
A 15-year-old with well-controlled type 1 diabetes presents with frank haematemesis. Her blood tests in accident and emergency show: pH 7.37, glucose 18.3 mmol/L, haemoglobin 12.3 g/dL, white cell count 5.3x10^9/L, neutrophils 2.1x10^9/L, platelets 165x10^9/L, Na 135mmol/L, K 3.5mmol/L, urea 5.0mmol/L, creatinine 83 umol/L, alanine transferase 740 IU/L, bilirubin 96umol/L, alkaline phosphatase 102 IU/L, and albumin 25g/L. Further investigations once she is stable on the ward show hepatitis B surface antigen negative, anti-hepatitis C virus negative, anti-nuclear antibody (ANA) 1:320, and anti-smooth muscle antibodies are positive. What is the most likely diagnosis?
A) Autoimmune hepatitis with varices
B) Metabolic ketoacidosis
C) Gastroenteritis with a Mallory-Weiss tear
D) Pregnancy with hyperemesis and a Mallory-Weiss tear
E) Systemic lupus erythematosus (SLE)
A
T1D is most commonly associated with coeliac and Graves’ disease. Autoimmune hepatitis is more common in females and presents between 10 and 30 years of age. ANA is positive in 80% of cases and anti-smooth muscle in 70%. The raised glucose is a stress response.
An 18-month-old child is brought into accident and emergency with a 2-day history of vomiting, abdominal pain and fever. Which of the following is an unlikely cause of this clinical picture?
A) Lower lobe pneumonia with pain referred to the abdomen B) Mesenteric adenitis C) Diabetic ketoacidosis D) Pyelonephritis E) NEC
E
NEC is predominantly a disease of preterm infants in the neonatal period.
Children can present very generally. Respiratory disease can be associated with vomiting as inflamed upper airways trigger the gag reflex, and increased work of breathing increases intraabdominal pressure.
Mesenteric adenitis is most likely in this case, but is a diagnosis of exclusion. A viral illness causes enlarged mesenteric glands, observed on abdominal ultrasound.
DKA is uncommon but possible in chlidren this young.
Pyelonephritis is a common cause of fever and vomiting if no other clear source is identified.
A 13-month-old is referred up to her local district general accident and emergency by a GP who is concerned she has intussusception following an 18-hour history of fever, vomiting, and intermittent colicky screaming. A kind radiologist agreed to do an urgent ultrasound which shows an area of invaginated bowel in the right side of the colon. What is the most appropriate management?
A) Ask the radiologist to attempt a reduction by rectal air insufflation and if this fails make nil by mouth (NBM) and transfer to a local paediatric surgical unit
B) Make NBM and start IV fluids while waiting for transfer to a paediatric surgical unit
C) Move to theatre for an attempt of rectal air insufflation reduction and if this fails move to surgery in the local hospital as the patient will be too unstable for transfer
D) Make NBM, start IV fluids, and admit for observation
E) Make NBM and start IV fluids, and book him onto the emergency theatre list as he is too unstable for transfer to a local paediatric surgical unit
B
75% of cases can be reduced by rectal air insufflation, but failure has a risk of perforation so should be performed in a unit with the capability to operate. A DGH is likely unable to do this, so the child should be transferred.
Which of the following is not a cause of PR bleeding?
A) Constipation with an anal fissure B) Intussusception C) Meckel's diverticulum D) Bacterial gastroenteritis E) Abdominal migraine
E
Most common cause of PR bleeding is anal fissure. Intussusception has a late sign of redcurrant jelly stool, a mixture of blood and mucus from the distal invaginated segment becoming necrotic.
2% of the population have Meckel’s diverticulum, and it can ulcerate, perforate, and present with severe rectal haemorrhage of dark red blood.
Gastroenteritis with Shigella or Salmonella can produce blood mixed in the stool.
A mother brings her 2-year-old to see you. She is very worried that he always has diarrhoea or loose stools. He eats a normal diet, and no particular foods seem to upset him, but he often still has bits of vegetables or food he has eaten visible in the stool. She thinks he is losing weight, and he is starting to potty train, so she is concerned this will affect his ability to anticipate needing the toilet. On examination, he is an alert and well-looking child with a normal capillary refill, heart and respiratory rate. His abdomen is soft with no masses, there is no evidence of wasting, and his weight and height are following the 50th centile. What is the most appropriate management?
A) Reassure the mother, explaining this is toddler’s diarrhoea and he will grow out of it
B) Start loperamide as toddler’s diarrhoea is affecting his toilet training
C) Refer for endoscopy and biopsy to rule out coeliac disease
D) Refer for a colonoscopy and biopsy for inflammatory bowel disease
E) Order a blood test for thyroid function to rule out hyperthyroidism
A
This is toddler’s diarrhoea which is a common cause of loose stool in pre-school aged children and almost always requires no treatment. It is likely to be related to immature development of intestinal motility and it resolves in most children by the age of 5. Rarely, if the diarrhoea is socially disruptive to the child, it can be treated with loperamide.
A 10-year-old boy presents with recurrent mouth ulcers, abdominal pain, distension, and frequent episodes of diarrhoea with mucus. He has been losing weight. On examination, he is slim, and plotting his growth shows a fall in weight from the 50th centile to below the 9th. His abdomen is soft with generalised discomfort on deep palpation, but no masses are present. What is the most likely diagnosis?
A) Ulcerative colitis B) Crohn's disease C) Coeliac disease D) Gastroenteritis E) NEC
B
A 15-year-old boy comes to see you, complaining of recurrent abdominal and back passage pain, relieved by passage of diarrhoea. He is also complaining of low back and knee pain, and last week there was blood mixed into his stool. He has been losing weight recently. On examination, he is slim, and looks pale. His abdomen is soft, but tender in the left iliac fossa, with no masses. What is the most likely diagnosis?
A) Ulcerative colitis B) Crohn's disease C) Coeliac disease D) Gastroenteritis E) NEC
A
99% of healthy term infants will pass meconium within the first 24h of life, and all should do so within 48 hours. Which of the following is not a cause of delayed meconium passage?
A) Hirschsprung's disease B) Cystic fibrosis with a meconium ileus C) Choanal atresia D) Imperforate anus E) Meconium plug syndrome
C
A 3-month-old baby is brought to accident and emergency because he has been vomiting and having diarrhoea for the past month. His mother breastfed him until he was 8 weeks old, and he is now taking formula milk, 4-5oz every 4 hours. On examination, he is alert, but fussy, and looks thin. He has eczema on his face, neck, and torso, and the mother says this is new. The abdomen is soft, the genitalia are normal with a significant nappy rash, and the anal margin is erythematous. You plot his growth in his red book, and find that he was born on the 50th centile, and was following that, but now is on the 25th centile for weight. What is the most likely diagnosis?
A) Cow's milk protein intolerance B) Lactose intolerance C) Gastroenteritis D) Hyper IgE syndrome E) Wiskott-Aldrich syndrome
A
Cow’s milk protein intolerance presents in infancy with skin inflammation, vomiting, diarrhoea (which may be bloody), failure to thrive, irritability, and colic.
Lactose intolerance is typically acquired after acute gastroenteritis, with a deficiency in lactase.
The history is too long for gastroenteritis.
Hyper IgE syndrome is an autosomal dominant immunodeficiency associated with severe eczema and skin boils.
Wiskott-Aldrich syndrome is an X-linked recessive disorder associated with thrombocytopenia, eczema, and lymphopenia.
A 15-year-old Asian girl with Down’s syndrome came to accident and emergency with a prolonged fever. She has severe learning difficulties and was difficult to assess. Her parents think she is more unsettled than usual, and not eating and drinking properly for the last 3 weeks. She is admitted as you cannot confidently find the source of the infection, but she has no cough, rash, vomiting, diarrhoea, or meningism. The next day, she complains of a headache and starts to vomit. She has a CT scan which is normal, and then a lumbar puncture (LP). WCC 150x10^9/L (20% neutrophils), RBC 0, protein 2g/L, glucose 1.2mmol/L (serum glucose 6.0mmol/L). What is the most likely cause of this meningitis?
A) Mycobacterium tuberculosis B) Herpes simplex virus C) Streptococcus pneumoniae D) Cryptococcus neoformans E) Neisseria meningitidis
A
Insidious onset and lack of meningism in this case suggests that the meningitis is caused by TB.
Streptococcus pneumoniae and Neisseria meningitidis are the most common causes of meningitis in the UK. They cause raised white cells, normal protein, and glucose less than 2/3 of the serum glucose.
HSV causes encephalitis, which is clinically similar to bacterial meningitis. HSV PCR can be performed on CSF from the LP.
Cryptococcus neoformans is more likely in the immunosuppressed patient.
You are on elective in Uganda and spending the day on the paediatric ward. You are told that it is the rainy season and malaria is now becoming increasingly problematic. Almost all the children on the ward are suffering with the effects of malaria. The first child is a 5-year-old boy with a cyclical fever, abdominal pain, and a 4cm splenomegaly. He has 2% parasitaemia on blood film. you are asked how you would treat this child. What is the best initial management step?
A) IM quinine B) IV fluids and IV quinine C) IV fluids and prophylactic splenectomy D) Emergency splenectomy E) Oral atovaquone
B
Anything above 2% is a moderate parasitaemia. Regardless, malaria requires hospitalisation and quinine (PO if uncomplicated, but IV dependent on severity or complications).
Splenectomies are only indicated if spleen is ruptured (e.g. hypovolaemic shock, peritonism).
Antimalarials should be taken dependent on local resistance of strains. Advice should be given regarding prophylaxis in the future, including chemopropylaxis, and also measures such as insect repellents and mosquito nets.
A 3-year-old girl presents to accident and emergency with a 6-day history of fever and she is over 38 degrees Celsius when measure by her mother with a tympanic thermometer. She has become very miserable for the last few days. She has developed a rash on her trunk, which is blanching, erythematous and confluent. On examination, you also note bilateral non-purulent conjunctivitis, cervical lymphadenopathy, and a red tongue with lip cracking. Her extremities are also erythematous but not peeling. WCC 14x10^9/L, CRP 200mg/L, and ESR 60 mm/hour. Blood culture is pending. What is the diagnosis?
A) Staphylococcal scalded skin B) Toxic shock syndrome C) Scarlet fever D) Kawasaki's disease E) Measles
D
This is Kawasaki disease. A diagnosis requires at least a 5d history of fever, with 4 of:
Bilateral non-purulent conjunctivitis
Rash
Red/cracked lips with strawberry tongue
Erythematous/peeling/oedematous extremities
Cervical lymphadenopathy
Kawasaki disease is a small-medium vessel vasculitis of unknown aetiology, in keeping with the raised ESR. It requires treatment with IVIG and aspirin. There is a risk of coronary artery aneurysm if untreated.
Staphylococcal scalded skin causes peeling with fever.
Toxic shock syndrome causes rash, fever, and diarrhoea.
Scarlet fever gives a sandpaper rash with erythematous mucous membranes.
Measles causes fever and an erythematous macular rash.
A 3-year-old boy presents with a right swollen eyelid. He has had a cold for the last week, but his eyelid started swelling yesterday. He has had no injury or broken skin around the eye. On examination, his right eye is swollen and red, there is no discharge, he is now unable to open his right eye, and he has proptosis. You are concerned about the complications of this infection. Within the last hour he has become drowsy and started to vomit. His observations are all normal. What is the concerning complication in this case?
A) Visual loss B) Abscess C) Septicaemia D) Orbital cellulitis E) Meningitis
E
All of those listed are a complication of periorbital cellulitis. The reduced consciousness and vomiting would raise concern of meningitis, though.
A 14-year-old girl presented to the GP with an enlarged lymph node in her neck. She first noticed it 3 weeks ago, and it is increasing in size. She has had a dry cough, fevers, night sweats, and weight loss. She has had a poor appetite over the last 2 weeks, which her mother blames for her weight loss. There is no history of foreign travel or tuberculosis (TB) contacts. A CXR shows a mediastinal mass. What is the most likely diagnosis?
A) Lymphoma B) Pneumonia C) TB D) Lung tumour E) Leukaemia
A
Prolonged fever raises the possibility of non-infectious causes. The ‘B’ symptoms and rapidly enlarging lympadenopathy suggest lymphoma. Leukaemia can also cause lymphaenopathy, but is more likely to present with anaemia, infections, or bleeding.
Pneumonia isn’t seen on the CXR, so is unlikely.
Lack of TB contacts and foreign travel make this unlikely.
Lung tumours are rare in children.
A 6-year-old girl presents to accident and emergency with a fever. She has no history of cough, cold, vomiting, diarrhoea, rash, headache, or joint pain. On examination, she is tachycardic at 150bpm, and there are two petechial spots on her right ankle. Her capillary refill time is 4 seconds, and she has cold feet. All her other observations are normal. What is the most appropriate course of action?
A) Inform the consultant about child protection concerns B) IV ceftriaxone C) IV fluid bolus and IV ceftriaxone D) Admit to the ward for observation E) Discharge
C
This girl is tachycardic and therefore should be investigated to find the cause. With the petechial spots in the presence of a fever and clinical signs of shock, one must consider meningococcal sepsis and commence antibiotics immediately. Since she has features of early shock, namely
tachycardia and prolonged capillary refill time, she therefore requires a fluid bolus so (C) is correct, not (B).
A 3-year-old boy was brought to accident and emergency with his mother. She says he has been limping for a day now and refusing to walk for the last 2 hours. He has had a fever to 39 degrees Celsius, which can be brought down with paracetamol. He has had no vomiting, diarrhoea, rash, cough, coryza, or injury. He lives with his mother and is her only child. She is currently unemployed and has a background of depression. On examination of the right leg he has a swollen thigh and cries inconsolably when it is touched. It is red and tender. He refuses to allow movement of the hip either passive or active. The left leg is unremarkable on examination. What is the most likely diagnosis
A) Perthes’ disease
B) Septic arthritis
C) Fractured femur due to accidental injury
D) Juvenile idiopathic arthritis
E) Fractured femur due to non-accidental injury
B
The fever, limp, limited movement, and signs of acute inflammation suggest septic arthritis.
Perthes’ disease usually presents as intermittent pain and limp between the ages of 5 and 7, so is unlikely here.
The lack of trauma history makes fracture unlikely.
JIA requires 6 weeks of joint pain and swelling persisting after other diagnoses have been excluded.
A pregnant woman attends her booking appointment at the antenatal clinic and has her routine blood tests done. She is now 13 weeks pregnant with her first child and you have a positive result for cytomegalovirus (CMV) IgM. You need to discuss the implications of CMV infection on her unborn child. Which of the following are not features of congenital CMV infection?
A) Deafness B) IUGR C) Hydrocephalus D) Thrombocytopenia E) Congenital cardiac defects
E
Congenital CMV can be transmitted in utero, and can result in IUGR, neurological sequelae (such as hydrocephalus and sensorineural deafness), and thrombocytopenia.
Congenital cardiac defects are more associated with maternal rubella infections.
A 5-year-old girl was admitted to the ward after she presented to her local accident and emergency with diarrhoea. She was passing 7-8 loose, watery stools per day for the last 4 days and had been vomiting for 1 day prior to this. There was blood in the stools and this had worried her mother. You ask about foreign travel and her mother reveals they had been in India until 2 weeks ago, staying with family and drinking tap water. She had no vaccines prior to travelling. On examination, she now has abdominal pain, swinging pyrexial, right upper quadrant tenderness, but no rebound or guarding. You notice a pale pink (rose) spot on her trunk. What is the most likely infecting organism?
A) Rotavirus B) Shigella spp. C) Vibrio cholera D) Salmonella typhi E) Escherichia coli 0157
D
Rotavirus is the most common cause of infective gastroenteritis worldwide, but blood in the stool suggests a bacterial cause, and the rose spot suggests Salmonella typhi. This is a notifiable disease.
Shigella and E. coli would cause all of the symptoms except the rose spot.
Cholera would present with dysentery, not just diarrhoea. This is a notifiable disease.
A 10-month-old baby is brought to accident and emergency by ambulance having had a seizure. His mother reports that he went floppy suddenly and then his right arm and leg started shaking and he was not crying. It lasted less than 5 minutes and he was sleepy afterwards. He has had a fever and runny nose for the last 2 days and is off his food. Why is this not a febrile seizure?
A) He is too young B) He has had a focal seizure C) He has recently had a viral illness D) The seizure lasted too long E) The fever was not high enough
B
Febrile seizures are common from 6m to 6y. They mostly occur in viral illnesses, and are generalised seizure in association with any fever (>37.5).
A focal seizure like this, with infection, raises concerns of meningitis.
A
A 4-year-old boy has been brought into accident and emergency with breathing problems. He is assessed by the paediatric team and found to have inspiratory and expiratory stridor, audible wheeze, lip and tongue swelling, and an urticarial rash on his trunk and abdomen. His heart rate is 167bpm and his respiratory rate is 40. BP is 90/45mmHg. What is the single most important management step?
A) Do not examine his throat as this may distress him
B) Give a normal saline fluid bolus
C) Give IV adrenaline 0.1mg/kg of 1:10 000
D) Give IM adrenaline 0.01 mg/kg of 1:1000
E) Mobilise the paediatric anaesthetist as his airway is compromised
D
This is anaphylactic shock. First, an IM injection of 1:1000 adrenaline should be given. Then an ABC approach including anaesthetist involvement for the airways, and fluid bolus for circulation, can be taken.
