Specialties - Paeds Flashcards

Question

A 9 month-old baby is brought to A&E by her panicking father because she suddenly began to vomit profusely at home. The baby is extremely distressed and has a distended abdomen; she throws up again in hospital and you notice the vomit is bright green. What is the most likely diagnosis? ``` A. Pyloric stenosis B. Duodenal atresia C. Mid-gut volvulus D. Hirschprung disease E. Laryngomalacia ```

Answer 1

C. Mid-gut volvulus This is a classic picture of bowel obstruction in a child. The bright green colour of the vomit suggests the presence of bile, meaning that the obstruction is below the ampulla of Vater (where the hepatopancreatic duct joins the duodenum). Hirschprung's disease and duodenal atresia are both unlikely as they would present very soon after birth (Hirschprung's disease can cause a chronic disease, but you would expect some mention of chronic constipation and failure to thrive).

Answer 2

D. RSV infection This is a history of bronchiolitis - a seasonal infection which is the most common LRTI in infants, especially aged 3-6 months. Bronchiolitis initially causes coryzal symptoms (runny nose, cough, sore throat, sneezing). As it progresses the infant will become short of breath, will feed poorly, and will classically develop a widespread expiratory wheeze. In severe cases the child can become cyanotic and lethargic. Management is supportive, but may still be significant in serious disease (e.g. ventilation). Prevention may sometimes be given using Palivizumab (RSV monoclonal antibody) for the winter months in at risk children (congenital heart defect, extreme prematurity, immunodeficiency, some lung diseases).

Answer 3

D. Start polyethylene glycol with electrolytes such as Movicol This is a very standard and simple case of functional constipation - another term for idiopathic constipation. These account for 90-95% of cases of constipation, and an actual underlying organic cause is fairly uncommon. Constipation develops from a vicious cycle of pain on defecation, leading to stool retention. The retention causes the stool to dry out and accumulate causing more pain on defecation. Over time the rectum will lose its sensitivity to stretch and some of its contractile strength. Accumulation of faeces leads to overflow incontinence (the word encopresis is sometimes used, and it means underwear soiling in a child who has previously been toilet trained). The NICE guidelines specifically state that dietary/ lifestyle changes alone should not be first line treatment for idiopathic constipation. This patient is also faecally impacted, as evidenced by the palpable abdominal mass (stool) and overflow soiling. First line treatment is with polyethylene glycol 3350 + electrolytes (Movicol) which retains water in the bowel to soften stool. A stimulant laxative (e.g. Senna) can be added if there is no change after 2 weeks, and either a lone stimulant laxative, or a stimulant with an osmotic laxative (e.g. lactulose), if Movicol is not tolerated. This should be given along with advice on dietary fibre and water intake, and information on behavioural changes (schedules, reward systems etc.). However these interventions will not solve the faecal impaction, hence it is more important in this case to prescribe the Movicol. https://www.nice.org.uk/guidance/cg99/chapter/1-Guidance#diet-and-lifestyle

Answer 4

D. Ipratropium Bromide Asthma attacks are divided into three classes which are listed at the bottom. High flow oxygen should be given to elevate O2 sats above 94%. First line treatment is a short-acting Beta2 agonist, given through a metered dose inhaler and spacer device, or a nebuliser for a severe attack. Anyone with life-threatening asthma, or a severe attack that persists beyond first-line therapy should be admitted, as should anyone with additional risk factors (e.g. learning disability, poor adherence, aged <18, previous severe attack, pregnancy). If this is unsuccessful, nebulised ipratropium bromide should be added. In this scenario, nebulised salbutamol has not resolved the attack, so ipratropium bromide should be added. Magnesium sulphate can then be given additionally, especially in children presenting with O2 sats >92%. I.V. salbutamol may be used in severe asthma where bronchodilators fail, and aminophylline can be given in similar circumstances, but neither are used as second line. Prednisolone should be prescribed O.D. for all cases of acute asthma, but is not part of the immediate management of this patient. I.V. hydrocortisone can be given for patients unable to tolerate oral medication. (https://cks.nice.org.uk/asthma#!scenario:2) Moderate acute: PEFR >50-75% best/predicted (at least 50% best or predicted in children), normal speech with no severe features. Severe acute: PEFR 33-50% best/predicted, (less than 50% best or predicted in children) or RR of at least 25/min in >12 years, 30/min in 5-12 years, and 40/min in 2-5 years, HR at least 110/min in >12 years, 125/min in 5-12 years, and 140/min in 2-5 years, or inability to complete sentences in one breath, or accessory muscle use, or inability to feed (infants), with oxygen saturation of at least 92%. Life-threatening acute: PEFR less than 33% best or predicted, or oxygen saturation of less than 92%, or altered consciousness, or exhaustion, or cardiac arrhythmia, or hypotension, or cyanosis, or poor respiratory effort, or silent chest, or confusion.

Answer 5

B. I.V. crystalloid bolus at 20mL/kg This is a history of anaphylaxis, which is characterised by a massive vasodilation in response to IgE cross-linking and mast cell degranulation. This causes distributory shock, as histamine released from mast cells makes vessels more permeable, allowing fluid will leave the circulation. Restoring circulating volume is therefore critical. The first step in anaphylaxis is to give an EpiPen - a dose of adrenaline which acts on alpha and beta receptors to relax smooth muscle in the airways, and constrict smooth muscle in the vasculature. This temporarily eases breathing and improves blood pressure, but the half life of adrenaline is 3-5 minutes so this does not last long or solve the underlying issue. I.V. saline is needed to restore the circulating volume and prevent ischaemic damage to the organs. Following resolution of the immediate emergency, chloramphenamine and hydrocortisone are given. Patients will frequently develop breathing difficulties as part of anaphylaxis, which complicates the management as the airway and breathing should be prioritised in an A-E approach. Nebulisers and high flow oxygen should be used as needed. 20mL/kg is the standard fluid bolus for a paediatric medical emergency.

Answer 6

E. I.V. fluids This is a history of diabetic ketoacidosis, a diagnosis that should always come to mind when seeing a child presenting with vomiting but no diarrhoea. The recent weight loss is suppsoed to imply that the child is an undiagnosed recent-onset type I diabetic. The first step in DKA is to rehydrate the patient, after which insulin can be given as an infusion. Rehydration should be carried out steadily to avoid the risk of central pontine myelinolysis. Potassium must be measured when giving insulin, as insulin can cause a dangerous hypokalaemia which will disrupt cardiac rhythm. Though I.V. bicarbonate seems in principal a good way to correct acidosis, it is not frequently used. NB: a VBG is a good measure of pH despite the CO2 difference

Answer 7

C. I.V. phenytoin Rectal diazepam (A) is an alternative to buccal midazolam given for an epileptic seizure in the community. Checking blood glucose (B) should be one of the first things done in this scenario, as part of an A-E approach (Don't Ever Forget Glucose) and would have been done already. I.V. lorazepam (D) should be given on arrival to hospital, or in the community if possible, but once it has failed the next step is to give either I.V. phenytoin (C) or I.V. phenobarbitol. Rapid sequence induction of anaesthesia is the absolute last resort to resolve status epilepticus. NICE guidelines for management of status epilepticus: https://www.nice.org.uk/guidance/cg137/chapter/Appendix-F-Protocols-for-treating-convulsive-status-epilepticus-in-adults-and-children-adults-published-in-2004-and-children-published-in-2011

Answer 8

A. High flow oxygen, IV fluid bolus, IV ceftriaxone This is a history of an acutely unwell patient with signs of sepsis, and so you should refer to the 'Sepsis Six' guidelines: Take blood cultutes, urine output measurements, and serial lactates Give broad spectrum antibiotics, I.V. fluids, and oxygen The correct answer is (A): she has presented with a classic presentation of meningococcal sepsis. Do not forget to always give sick children oxygen; if the mask makes them more distressed a minimum of wafted high flow O2 may suffice. The child has a prolonged capillary refill and is tachycardic; she should have a fluid bolus (20mL/kg) and be reassessed. As soon as intravenous or intraosseous access is obtained she should be given IV ceftriaxone, but only after the blood culture has been taken. (B) and (E) are incorrect as there is no mention of the child having meningitis. Currently there is no formal consensus as to whether steroids should be routinely used but administration before or with the first dose of antibiotics has been shown to be beneficial for some types of bacterial meningitis. (C) and (D) are incorrect as you do not yet have clotting results. She will likely need fresh frozen plasma to correct her disseminated intravascular coagulation which is evidenced by the forming non-blanching rash. This question was reproduced from '450 SBAs'

Answer 9

D. 21-hydroxylase deficiency 21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia. Deficiency of the enzyme leads to insufficient cortisol production, with the steroid hormone precursors instead being shunted into sex hormone production; this leads to hypervirilisation in girls. The lack of cortisol and aldosterone leads to hyperkalaemia and hyponatraemia. Males do not have altered genitalia and so tend to present with a salt-wasting crisis >1 month of age. The other forms are 11B and 17a hydroxylase deficiency - they are 10 times less common and do not lead to hypervirilisation of females. NB: If testicles cannot be palpated in the scrotum or groin, check the child is not a hyper-virilised female

Answer 10

A. Coeliac disease The answer here is coeliac disease (A). The clue to this is that his growth was normal until the age of weaning, 6 months. With the introduction of gluten into the diet his growth began to falter. You also note he is pale, likely anaemic, suggestive of malnutrition. One of the classic signs of coeliac disease is the wasted buttocks. Neglect (B) should always be considered in any case of failure to thrive, especially in a child who seems withdrawn, but it is important to remember that chronic illness may make children listless and withdrawn and it is always important to rule out physical illness. You would need multidisciplinary input prior to making the diagnosis of neglect. Constitutional delay (C) is the isolated finding of delay in skeletal growth, i.e. height, and is typically seen around the time of puberty; as his growth failure started with weight this answer is incorrect. He is not a normal child (D) as he was born on the 50th centile and his weight is now on the 2nd centile with other parameters following in the traditional pattern of growth failure: weight followed by height, followed by head circumference. Beta thalassaemia (E) is highly unlikely in a Caucasian child. You would expect them to be pale and develop symptoms including growth failure around 6 months of age, but without transfusions he would be unlikely to survive to a year-anda-half old. This question was reproduced from '450 SBAs'

Answer 11

C. Constitutional delay of growth and puberty This is constitutional delay of growth and puberty (C). It classically runs in families in the male line and presents with delayed puberty and growth spurt. He has started puberty and it seems to be progressing in the normal pattern so he should be reassured that he will get his growth spurt as he finishes puberty. While 9 per cent of the population will have his height and weight (A) and be normal, the mid-parental height suggests he should be taller than he is (the mean parental height plus 7 cm for boys or minus 7 cm for girls predicts the adult height of the child ± two standard deviations). As he has started puberty and is otherwise well this is unlikely to be growth hormone deficiency (B) or underlying chronic illness (D). In anorexia (E) you would expect the weight to be less than the height centile and to be more extremely low. This question was reproduced from '450 SBAs'

Answer 12

A. Transposition of the great vessels This child has a cyanotic defect affecting the oxygenation of the blood. Transposition of the great vessels (whereby the aorta is attached to the right ventricle and the pulmonary artery attached to the left ventricle) (A) and the Tetralogy of Fallot (multiple defects including VSD, right ventricular outflow tract obstruction, right ventricular hypertrophy and overriding aorta) (C) are both cyanotic presentations but the Tetralogy of Fallot more commonly presents at around 6 months of age with cyanotic spells. Transposition of the great vessels is more likely to present at birth and is only compatible with life if there is a mixing defect in addition (VSD, atrial septal defect, persistent ductus arteriosus). In this child the ductus arteriosus helps to shunt blood to the lungs until it starts to close physiologically. He then is at risk of worsening cyanosis. He needs a prostaglandin infusion to keep the duct open and surgical intervention. The other answer options (B) (VSD is a communication between the left and right ventricles allowing left-to-right shunting), (D) (narrowing of the outflow tract of the left ventricle) and (E) (narrowing of a section of the aorta) are acyanotic and therefore do not account for this presentation. This question was reproduced from '450 SBAs'

Answer 13

C. Make the patient NBM and insert an NG tube, establish I.V. access and give saline, then perform an abdominal USS This is a history of intussusception: invagination of the bowel (essentially telescoping in on itself along its length) leading to an acute abdomen. This child is in the initial stages, but intussusception may progress as blood supply to the affected bowel is impeded, causing bowel necrosis and peritonitis. A classic sign that the bowel is beginning to necrose and slough is 'redcurrent jelly' stool. As this is a presentation of an acute abdomen, the patient should be made NBM and needs an NG tube inserting (remember to manage this patient's nutrition if they are NBM). They will also need I.V. access establishing and saline giving, after which a USS is the investigation of choice. This will show the 'doughnut' or 'target' sign, which is the appearance of intussuscepted bowel when viewed along its length. Intussusception occurs at the ilio-caecal valve in ~90% of cases, which is the cause of the sausage shaped mass in the right iliac abdominal region.

Answer 14

C. Pyloric stenosis, hypochloraemic metabolic alkalosis, hyponatraemia, hypokalaemia Pyloric stenosis is caused by hypertrophy of the pyloric muscle causing outflow obstruction of the stomach. It usually presents between 2-8 weeks of age with vomiting soon after feeds which becomes more forceful in nature with time, and eventually classically projectile. The baby will usually still be hungry after vomiting, though as they become dehydrated and there is electrolyte derangement, they will lose interest in feeds. Loss of stomach contents results in a hypochloraemic alkalosis with hyponatraemia and hypokalaemia. A child may present with failure to thrive if the presentation is delayed. Once any immediate dehydration and electrolyte abnormalities have been corrected, you can organise diagnostic tests. A test feed can be used to detect pyloric stenosis: the classic sign is an olive olive-sized mass in the right upper quadrant, with a peristaltic wave moving across the abdomen from left to right. A nasogastric tube is used to empty the stomach of air to allow palpation of the pyloric muscle. NB: the classic test is a test feed, but this is being superseded by the faster and very accurate USS to determine pyloric muscle thickness and pyloric canal length, which is a particularly favoured option amongst surgeons. Management is with a pyloromyotomy: division of the pyloric muscle down to the level of (but sparing) the mucosa. The post-operative prognosis is excellent, and the patient can usually be discharged after 2 days with a low risk of operative morbidity or recurrence of the issue.

Answer 15

A. Innocent murmur Innocent murmurs are detected at some stage in ~30% of children, and have no pathological basis. This history is suggestive of an innocent murmur because it has been detected for the first time during a febrile illness (which can exacerbate an innocent murmur, causing it to be heard). Furthermore, the child is not exhibiting any cardiac symptoms. The presence of the four S's of an innocent murmur is also reassuring: Soft blowing murmur Systolic only Sternal edge (left) aSymptomatic Further reassuring features are: Normal heart sounds with no added sounds No parasternal thrill No radiation

Answer 16

B. Patent ductus arteriosus The ductus arteriosus joins the aorta and the pulmonary vein, thereby circumnavigating the pulmonary circulation. This is an important part of the fetal circulation (along with the foramen ovale and the ductus venosum) but closes shortly after birth. In some children it does not close, and the risk of this is around 1 in 2000. However the risk increases to ~40% in children with birthweights under 1500g (classified very low birthweight). A patent ductus arteriosus (PDA) causes left-right shunting which may be asymptomatic if the defect is small. However if the defect is large, the shunting can cause increased oxygen requirements, atelectasis, recurrent LRTIs, and congestive cardiac failure. If the defect remains open, patients are more vulnerable to bacterial endocarditis, pulmonary hypertension, and aortic rupture. There is significantly increased mortality with untreated PDA: ~20% at 20 years, ~40% at 40 years, ~60% at 60 years. Treatment is with a prostaglandin inhibitor or surgical ligation in infants, or with a cardiac catheter procedure if the PDA is picked up later. NB: mention of a 'machinery-like murmur' in an SBA is a very strong hint towards a PDA

Answer 17

D. A prolonged period of illness before the febrile seizure Febrile seizures are relatively common, occurring in 3% of children between the ages of 6 months and 6 years old, and are defined as seizures occurring during a febrile illness in the absence of intracranial infection. Family history is significant, with a 10% risk in those with first degree relatives who have experienced febrile seizures. Febrile seizures are not strongly associated with true epilepsy: 1-2% of children with febrile seizures go on to develop epilepsy, which is only slightly higher than the incidence in children without febrile seizures. However multiple seizures within the same illness, or prolonged or focal seizures do increase the risk of epilepsy to 4-12%. Among children who have one febrile seizure, 30-40% will go on to have more. Risk factors for further seizures include: a family history of febrile seizures, age under 18 months, relatively low precipitating fever, short duration between onset of illness and seizure, and a complex seizure (>15 minutes duration, repeated within same illness, focal symptoms, incomplete recovery in less than an hour) NB: Always consider meningitis before declaring a febrile seizure

Answer 18

A. It would not generate immunity if given under 6 months The MMR vaccine would not be effective if given to a baby under 6 months old because maternal antibodies transferred to the baby are still present and will neutralise the attenuated virus without the baby's immune system developing a response. The MMR vaccine is a live attenuated vaccine given in two doses by intramuscular injection into the upper arm or thigh. The first dose is ideally given within a month of the child's first birthday, and the second when they turn 3 years and 4 months old (or soon after). MMR provides excellent immunity to all three diseases, with ~97% of recipients becoming immune to rubella and measles, but only 88% gaining immunity to mumps. Up to date UK vaccination schedule: https://assets.publishing.service.gov.uk/government/uploads/system/uploads/attachment_data/file/849184/PHE_complete_immunisation_schedule_Jan2020.pdf

Answer 19

B. Respiratory distress syndrome Premature birth raises a huge number of problems; it is important to carefully control the environment of a pre-term baby, e.g. the temperature, nutrition, fluid balance, infection risks, oxygen supply, and cardiovascular support. A number of conditions are associated with pre-term birth, and the first to present of those listed will be respiratory distress syndrome (RDS), which presents within 4 hours of birth. RDS is pulmonary dysfunction due to surfactant deficiency, causing lung atelectasis and respiratory distress. Antenatal glucocorticoids have been proven to have a significant benefit in RDS, and indeed in many conditions associated with prematurity, as they replace the maturing effects of endogenous steroid release which usually takes place late in pregnancy. All of the following are also often associated with pre-term birth: Intraventricular haemorrhage (IVH): This usually occurs in the germinal matrix - a network of fragile blood vessels above the caudate nucleus, adjacent to the ventricles. If these vessels haemorrhage significantly, they bleed into the ventricles, which can destroy nearby migrating neuroblasts, causing neurological damage. 85% of IVH occurs within 72 hours of life, with 60% occurring within 24 hours. Necrotising Enterocolitis (NEC): A disease of uncertain aetiology, but is thought to be caused by bacterial invasion of the immature bowel wall, causing an inflammatory reaction which makes the bowel wall more permeable and exacerbates the invasion. Bowel ischaemia and bacterial invasion are both important risk factors, and preterm babies are more vulnerable to both. Patients with NEC rapidly become shocked as the bowel dies, with an acute abdomen picture and a metabolic acidosis. The mortality is between 20-50% and there is significant morbidity and sequelae associated. NEC usually affects preterm children, and presents within the first 4 weeks of life. Hypoxic-Ischaemic Encephalopathy (HIE): HIE is defined as the clinical manifestation of a hypoxic event within 48 hours of the event occurring. Management involves resolving the underlying cause asap, after which any disability must be assessed. Therapeutic cooling can reduce morbidity and mortality in moderate-severe cases under 18 months, but the main focus is to prevent HIE in the first place. Retinopathy of Prematurity (RoP): RoP is theorised to be a neovascular response to exposure to hyperoxic conditions. Normal retinal vessel development is impaired in preterm babies; the abnormal vessels which subsequently form are structurally unsound leading to haemorrhage, fibrosis, and retinal detachment. RoP is screened for in vulnerable children starting at 4 weeks and continuing till the retina is fully vascularised BpD - defined by oxygen requirement at 36 weeks LMP age PDA also common

Answer 20

Because maternal IgG, which usually protects infants from infection, is transmitted across the placenta mostly in the third trimester. Accordingly, if the baby is born preterm they will have less IgG from the mother and will be at risk of infection.

Answer 21

B. Neuroblastoma Neuroblastoma is a childhood malignancy arising from neural crest tissue in the adrenals and sympathetic nervous system. Abdominal mass is a common presentation, and metastatic disease can move to bone and present as a limp. Over the age of 2 years, most clinical symptoms are the result of metastatic disease. ALL would be a good differential for this presentation, but AML is less likely in a child this age. The hypertension is a result of catecholamines released by the tumour. This is reproduced from a Lissauer's case study (10th edition, p395)

Answer 22

D. A 15 year old boy in a sexual relationship with his secondary school teacher There is no legal obligation to automatically report underage sexual activity unless there is a suspicion of exploitation/ abuse. GMC guidance suggests the following as indicators that the doctor should generally break confidence: Under age 13 A young person who is too immature to understand or consent A big differences in age, maturity or power between sexual partners A young person’s sexual partner having a position of trust Force or the threat of force, emotional or psychological pressure, bribery or payment, either to engage in sexual activity or to keep it secret Drugs or alcohol used to influence a young person to engage in sexual activity when they otherwise would not A person known to the police or child protection agencies as having had abusive relationships with children or young people

Answer 23

C. A 1 year old with a spiral fracture of the humerus apparently sustained from falling onto an outstretched arm This case is suspicious in part because of the fracture pattern - spiral fractures are associated with NAI, as are humeral fractures in children under 18 months. The location of an injury is important in determining whether it is accidental; injuries to the extensor surfaces that fit with an explanation may be innocent, but injuries to flexor surfaces are more suspicious. The age is also important to factor in: e.g. it is plausible that the 9 month old was crawling around and fell and bruised their head and shoulder, but this would be less believable of a 3 month old who will not yet be crawling. This is a good resource for NAI fracture information: https://www.rcpch.ac.uk/sites/default/files/2019-02/child_protection_evidence_-_fractures.pdf

Answer 24

B. 4 deletions of genes on each chromosome 16 The most severe form of alpha thalassaemia is caused by deletions in all four alpha haemoglobin genes. This haemoglobin is known as Haemoglobin Barts and leads to hydrops fetalis (fetal oedema) and death in utero. Alpha thalassaemia = deletions in any of 4 genes on chromosome 16 leading to problems beginning in utero Beta thalassaemia = point mutations in any of 2 genes on chromosome 11 leading to problems beginning around 3-6 months old as fetal haemoglobin is replaced by adult

Answer 25

Meningitis/ encephalitis

Answer 26

B. An 18 month old with a linear skull fracture Certain fracture patterns and fractures in particular bones or bone locations are indicative of NAI. Fracture in a young child, spiral fractures, transverse fractures, metaphyseal femoral fractures, and transverse fractures are all associated with NAI. Rib fractures in the absence of trauma or underlying disease is highly suggestive of NAI, and though it is technically possible that the injuries described in 'C' could be sustained during birth, it is actually quite uncommon and NAI is more likely. Younger children presenting with fractures are more likely to have an NAI, as they are less mobile and it is less likely they would be able to fracture a bone on their own. It is important to know the gross motor capabilities of a child at different ages in order to analyse whether a parent's explanation makes sense (e.g. how could a 6 month old who can't walk have sustained a femoral fracture?). This is a good resource for NAI fracture information: https: //www.rcpch.ac.uk/sites/default/files/2019-02/child_protection_evidence_-_fractures.pdf https: //radiopaedia.org/articles/non-accidental-injury-1?lang=gb

Answer 27

A. Limp is a relatively common symptom of a primary neuroblastoma Neuroblastomas make up ~7% of childhood cancers, and arise from neural crest tissues e.g. in the adrenals or sympathetic nervous system. They often present with an abdominal mass and generic systemic signs. Whilst they also commonly present with a limp, this is due to metastatic disease affecting the bone, rather than the primary tumour.

Answer 28

E. Rubella: 90% incidence of congenital Rubella syndrome B. CMV: 30-40% placental transmission rate, 10% of infected babies have congenital abnormalities A. Parvovirus B19: 33% placental transmission, 9% infected C/D. HSV: Very low chance of infecting the baby if contracted in first trimester, only 5% of hsv infections are transmitted through the placenta C/D. VZV: 0.5% risk of congenital syndrome Options C and D are essentially interchangeable because both carry very low risk NB: HSV and VZV both have highest transmission rates if infected close to birth, as they are mostly transmitted peri-partum and the mother does not have time to transmit antibodies to the fetus against the virus. They are not often transmitted via the placenta NB: the above percentages are for maternal infection in the first trimester

Answer 29

D. Heart defects Heart defects are one of the classic triad of congenital Rubella syndrome. They are not particularly associated with other congeital infections, whereas microcephaly, chorioretinitis, deafness, and a purpuric rash causing the 'blueberry muffin' appearance can all be caused by both CMV and Rubella. The most important organisms in congenital infection are the 'ToRCH' organisms: Toxoplasmosis, Rubella, Cytomegalovirus, and Herpes Simplex. Syphilis and Zika virus may also cause congenital infection. These pathogens infect the mother, then cross the placenta and infect the baby, causing various birth defects. The most common pathogen is CMV. The severity of disease in neonates depends on the pathogen and the gestational age of infection: some pathogens carry worse outcomes in early infection (Rubella, CMV), some are more dangerous if the mother is infected close to birth (VZV, HSV). The most severe cases cause miscarriage or stillbirth. If the baby survives a wide range of abnormalities may be seen including: hepatosplenomegaly, haematological disorders especially thrombocytopenia, a purpuric rash (causing the 'blueberry muffin baby' appearance), and CNS disease (microcephaly, chorioretinitis). These features are fairly general but vary in prevalence by pathogen, and each infectious agent causes its own more specific issues (e.g. the triad of Rubella: sensorineural hearing loss, ocular abnormalities, and congenital heart malformation).

Answer 30

E. A loop of bowel protruding through the abdominal wall, usually to the right of the umbilicus Gastroschisis and exomphalos are two similar disorders in which a baby is born with bowel protruding from their abdomen. In exomphalos the bowel protrudes through the abdominal ring and is covered by a transparent sac made of amniotic membranes (from the umbilical cord) and peritoneum. In gastroschisis the bowel protrudes through the anterior abdominal wall (usually in the right paraumbilical area) and is not covered by a sac. Gastroschisis is more concerning as the bowel is exposed and the baby is at risk of losing heat and fluid through it, hence the exposed bowel should be covered in a wrap. These defects are usually picked up on the 20 week abnormality USS. Exomphalos is associated with a range of chromosomal and congenital abnormalities (Pentalogy of Cantrell, trisomy 13 and 18), whereas gastroschisis is not. The management of both is surgery to return the bowel to the abdomen.

Answer 31

Vision and Fine Motor: 3 months - fixes on objects and follows them visually 6 months - reaches for objects 9 months - transfers objects between hands 12 months - has developed a pincer grip

Answer 32

``` Gross Motor: 4 months - head control 9 months - sits unsupported 12 months - stands with support 18 months - walks independently ```

Answer 33

``` Hearing, Speech, and Language: 7 months - polysyllabic babble 10 months - consonant babble 18 months - can say 6 words with meaning 2 years - joins words together 2.5 years - 3-word sentences ```

Answer 34

``` Social Behaviour: 8 weeks - smiles 10 months - fears strangers 18 months - can feed self with a spoon 2-2.5 years - symbolic play (e.g. pretending a wooden block is a car/ phone) 3-3.5 years - Interactive play ```

Answer 35

C. Give nebulised budesonide, consider adrenaline, and bleep the anaesthetist This is a fairly clear case history of croup, and there are signs that suggest it is severe. Of most importance is the lethargy that the child is showing, indicating they are becoming fatigued and desaturating. Low oxygen saturations or a very high respiratory rate would also suggest severe croup. Steroids will help to reduce the upper airway inflammation, but it may be difficult to get the child to swallow a pill in this state. Furthermore, nebulised budesonide will act faster, and this is an emergency situation. Nebulised adrenaline can be given to quickly open the upper airway, but is a temporary measure, and carries a risk of rebound obstruction. The anaesthetist should be bleeped because if the medical measures to restore the upper airway don't work, the child will have to be intubated.

Answer 36

A. Send them to theatre asap for bilateral orchidopexy This is a clear history of testicular torsion, where a testis twists around its axis, occluding its own blood supply. This is an emergency and must be treated within a few hours of onset if the testis is to remain viable. The surgery used to rectify torsion is generally referred to as an orchidopexy, and involves un-rotating the testis and fixing it to the scrotum to prevent recurrence. The other testis is also fixed, as it is also at risk of torsion. Torsion is most common in post-pubertal boys but may present earlier. It may present as testicular pain, but can also be referred to the groin or lower abdomen. USS may be useful in diagnosing torsion, but it is essentially a clinical diagnosis, and the most important priority is to send the patient to theatre asap.

Answer 37

C. The affected bowel is hypertonic and does not relax in response to proximal distension 'A' is very nearly right, but it is a lack of parasympathetic colon innervation that occurs in Hirschprung's disease. 'B' is incorrect because the incidence of Hirschprung's is ~1 in 5000 which is not overly rare, and it accounts for 20% of all neonatal bowel obstruction. 'D' is incorrect because the bowel is hypertonic not hypotonic: it fails to relax in response to proximal distention and so cannot allow stool to pass through. 'E' is incorrect because the issue in Hirschprung's is not with mucosal function.

Answer 38

B. Throat swab This is a history of scarlet fever, an infectious disease caused by Group A Streptococcus (S. pyogenes). It presents similarly to Kawasaki disease: a high fever for several days then a rash. However the rough quality of the rash and the inflamed tonsils are clues which point to scarlet fever. Additionally, the rash does not involve the palms and soles, there is no conjunctivitis, and there is no oedema of the hands or feet, meaning this would not fulfill the diagnostic criteria for Kawasaki disease.

Answer 39

B. VSD, overriding aorta, pulmonary atresia, right ventricular hypertrophy 'B' describes Tetralogy of Fallot correctly, albeit the more severe form where there is pulmonary atresia instead of infundibular stenosis. It is one of two causes of congenital cyanotic heart disease and is probably slightly more common than the other - transposition of the great arteries. Tetralogy of Fallot was classically associated with severe mortality and morbidity in early childhood, but with modern surgery 90% survive to adulthood and 90% of them live a normal lifestyle.

Answer 40

A. Give a prostaglandin infusion Cyanotic heart defects are somewhat alleviated by a patent ductus arteriosus, so the most important principle in managing these patients is to keep that duct open. This is done by giving a prostaglandin infusion. These types of circulation are referred to as 'duct-dependent'.

Answer 41

A. A holosystolic murmur at the lower left sternal edge This is typical of a ventriculo-septal defect, the most common congenital cardiac malformation which accounts for 30% of heart deformities. This question essentially asks which is the most common malformation that would present as breathlessness but not cyanosis (remember cyanosis is caused by right-left shunts or a complete AVSD). A holosystolic murmur is very similar to a pan-systolic murmur, and the difference is mostly academic: a pansystolic murmur lasts throughout systole and obscures S1 and S2, whereas a holosystolic murmur does not obscure S1 and S2. In reality the two are rarely distinguished. 'B' describes a PDA murmur 'C' is aortic stenosis 'D' is an ASD 'E' is an innocent murmur

Answer 42

D. Constriction of DA tissue, thereby both causing and decompensating a left outflow tract obstruction The above describes the generally accepted theory behind coarctation of the Aorta: the ductus arteriosus tissue closes part of the aortic arch when it contracts and closes. This usually happens within 48 hours (though it may take longer, especially in girls) and the closure of the duct removes a potential bypass of the coarctation. In this way, the constriction of the DA tissue both causes the coarctation, and removes the compensatory mechanism. This does not always occur: there are other mechanisms of coarctation and the degree of aortic narrowing varies. The presentation here is of the most severe variety as this neonate is presenting with shock. Whilst sepsis and meningitis are important differentials, the lack of any complications at birth and the fact the baby was previously completely well make them less likely.

Answer 43

E. Reassure her this is very normal, and that changing feeding position and introducing solid foods or thicker fluids will help This is a history of gastro-oesophageal reflux - a very common finding in children in the first year of life that almost always resolves by the age of 1. Though irritating and worrying for parents, reflux is nothing to worry about unless certain features develop necessitating treatment, at which case the diagnosis become gastro-oesophageal reflux disease. ``` Features implying GORD are: Faltering growth Signs of oesophagitis (pain or discomfort, haematemesis, iron deficient anaemia) Aspiration leading to pneumonia Any serious events as a result of reflux ``` Accordingly, this child does not have GORD as they show no signs of actual disease. A more upright feeding posture and introducing thicker fluids and solids into the diet will help the reflux, especially as the baby is now 9 months old and so should be starting solids.

Answer 44

E. Establish I.V. access, give an initial bolus of 400mL Hartmann's, and set up a Hartmann's drip at a rate of 96mL/h 20mL/kg of I.V. crystalloid without glucose given in under 10 minutes is the standard paediatric fluid resuscitation bolus Fluid to give = (deficit - initial bolus) + maintenance Deficit = 2kg = 2000mL 2000mL - 400mL = 1600mL The deficit is replaces over 48 hours (NOT 24) so 1600/48 = 33.3mL/h ``` Maintenance (use non-dehydrated weight) Uses the Holliday-Segar formula: 100ml/kg for the first 10kg 50ml/kg for the next 10kg 20ml/kg for each subsequent kg 100x10 + 50x10 = 1500mL Maintenance is calculated for 24 hours so 1500/24 = 62.5mL/h ``` 62.5+33.3 = 95.8mL/kg (give for 48 hours) Do oral fluids count?

Answer 45

E. Prescribe a paediatric moderate dose ICS and PRN salbutamol for an 8 week trial, then withdraw the ICS and reassess symptoms It is a common medical student misconception that asthma cannot be treated in a child under 5. Whilst it is true that many children under 5 will experience reactive airway disease that will resolve spontaneously, the disease will impact some children sufficiently to warrant treatment. In this case asthma is having an obvious impact on the child - he is being woken at night and experiencing SOB 4 times per week. A child under 5 with a clear clinical picture is said to have suspected asthma, and is treated as such until age 5 when objective testing can be carried out. This delay is largely because of the compliance needed for objective testing, which is absent in most under 5s. NICE guidelines on asthma management for under 5s is as follows: Consider an 8‑week trial of a paediatric moderate dose of an ICS in children under 5 with: - Symptoms at presentation that clearly indicate the need for maintenance therapy (for example, asthma-related symptoms 3 times a week or more, or causing waking at night) or - Suspected asthma that is uncontrolled with a SABA alone After 8 weeks, stop ICS treatment and continue to monitor the child's symptoms: - If symptoms did not resolve during the trial period, review whether an alternative diagnosis is likely - If symptoms resolved then reoccurred within 4 weeks of stopping ICS treatment, restart the ICS at a paediatric low dose as first-line maintenance therapy - If symptoms resolved but reoccurred beyond 4 weeks after stopping ICS treatment, repeat the 8‑week trial of a paediatric moderate dose of ICS If suspected asthma is uncontrolled in children under 5 on a paediatric low dose of ICS as maintenance therapy, consider an LTRA in addition to the ICS.

Answer 46

Because they have a higher surface area:volume ratio and a higher basal metabolic rate

Answer 47

B. An indirect inguinal hernia The most significant clue is that the doctor is unable to get above the swelling - this indicates a hernia rather than a hydrocele or testicular mass. You can usually get above a hydrocele, and at least above the main bulk of the mass, though you will not be able to separate it from the testis. Trans-illumination is a red herring here: although it is commonly associated with hydroceles, children have thin bowel walls that will trans-illuminate. The lack of pain in this case is reassuring, as it implies the bowel is not incarcerated or strangulated. Inguinal hernias are defined as abdominal contents entering the inguinal canal. This may occur either through a weakpoint in the abdominal fascia (direct) or through the deep inguinal ring into the inguinal canal (indirect). Indirect hernias make up 80% of inguinal hernias, and are particularly common in children (5% incidence). They essentially always result from a patent processus vaginalis - an outpouching of peritoneum (distal to the inguinal canal) into the scrotum. This usually obliterates but if it remains open, it provides a space for bowel to move into via the inguinal canal. Direct hernias are associated with elderly people with weaknesses in their abdominal muscle.

Answer 48

D. Reassure the father this is a common and benign childhood condition, tell him to return if any other symptoms develop, prescribe a course of steroids This history describes nephrotic syndrome (triad of oedema, proteinuria, hypoalbuminaemia) in a child with no other symptoms. The most common cause of nephrotic syndrome in children is minimal change disease, also known as steroid-sensitive nephrotic syndrome. 85-90% of acute cases will resolve in response to steroids (i.e. is minimal change disease) and these children will not go on to develop chronic kidney disease. Prognosis long-term follows the rule of thirds: 1/3 will resolve and never have another episode, 1/3 will have infrequent relapses, and 1/3 will have frequent relapses/ become steroid-dependent. That said, there are some potentially serious complications of minimal change disease: Intravascular volume depletion due to oedema formation Thrombosis due to antithrombin loss in urine and concentration of serum plasma making it more viscous and coagulable Infection due to loss of immunoglobulin in the urine Hypercholesterolaemia as a result of low albumin through an unknown mechanism A biopsy may be taken if the patient does not respond to steroids as this implies there may be a different diagnosis. However a biopsy of minimal change disease will not look abnormal on light microscopy: abnormalities will only be seen on electron microscopy.

Answer 49

B. Stop the LTRA and begin a LABA instead ``` Asthma guidelines for 5-16 year olds: SABA alone SABA + low dose ICS SABA + low dose ICS + LTRA SABA + low dose ICS + LABA MART with low dose ICS MART with moderate dose ICS OR SABA + moderate dose ICS + LABA ```

Answer 50

C. Give opioid analgesia and attempt to reduce the lump This is a hernia which has become incarcerated: i.e. it has become trapped and has started to obstruct the bowel. This hernia is probably not strangulated yet (i.e. the blood supply is not obstructed) as this would present with a more dire picture, but it is possible. The first option should be to try and reduce the hernia, as with good analgesia this is usually possible and will de-obstruct the bowel and restore the blood supply. If reduction is successful, surgery usually follows within 48 hours as 15% of inguinal hernias will recur. If reduction is unsuccessful, the hernia must be managed surgically, so either way this patient will eventually need surgery.

Answer 51

A. Horizontal contralateral testis - 4. Angel's sign B. Elevation of the affected testis relieves pain - 1. Prehn's sign C. Affected testis sits higher - 2. Deming's sign D. Movement of ipsilateral testis on stroking of the thigh - 3. Cremasteric reflex

Answer 52

C. An inborn error of metabolism This presentation is suggestive of galactosaemia: a congenital enzyme deficiency leading to inability to metabolise galactose. This leads to accumulation of toxic metabolites in the blood which if untreated can lead to liver failure, cataracts, delayed growth, and learning difficulties.

Answer 53

1. Prolonged neonatal jaundice, liver failure, cataracts, particularly common in Irish travellers - B. Galactosaemia 2. Fair hair and blue eyes, musty odour, microcephaly, learning difficulties, seizures, brain damage - A. PKU 3. Rapidly progressive encephalopathy, collapses from non-ketotic hypoglycaemia if not fed often - C. MCADD

Answer 54

D. Make an urgent referral to a general paediatric surgeon for repair of the hernia The hernia described here is clearly not incarcerated or strangulated, so there is no immediate concern for the child's health. However given the boy's age (less than 1 year old) there is an increased risk of incarceration and strangulation because the deep inguinal ring (through which the bowel herniates) is very small. Accordingly this child needs urgent, but not emergency surgery. 'A' is true of hydroceles but not hernias - most resolve by age 3 and so unless there are worrying features, children under 3 are usually not managed surgically. There should be an effort to reduce the hernia, as even when incarcerated most hernias can be reduced with sufficient analgesia, but 15% will recur so definitive management with surgery is standard practice.

Answer 55

B. Re-check at 4 months of age Imaging is generally not recommended in cases of undescended testes. If the absent testis can be palpated in the groin, it may be possible to coax it into the scrotum with pressure along the inguinal canal. If a child's testis is undescended at birth they are re-examined at 6-8 weeks, then at 4-5 months. If the testicle is still undescended they should be seen by a specialist by 6 months of age. This child will likely need a laparoscopy as the testis seems to be intra-abdominal. Around 10% of impalpable testes are later found to be absent, so laparoscopy is needed to establish the existence and location of the testis, then orchidopexy will be needed to fix it in place. Undescended testes should be surgically managed before 1 year of age, as spontaneous descent after this age is unlikely, and resolving the issue before 1 has been shown to improve function of the testis.

Answer 56

D. Torsion of the appendix testis; immediate exploratory surgery The appendix testis (also known as the testicular appendage or the Hydatid of Morganagni) is a Mullerian remnant usually found on the upper section of the testis and present in most males. Torsion of this remnant is more common than testicular torsion, and generally presents less dramatically. This fits with the clinical picture in this question and so is the most likely differential. However the consequences of missing testicular torsion are severe, and this case history is not sufficient to confidently rule out torsion, so exploratory surgery should be carried out in case of testicular torsion. The 'blue dot' sign may be seen on the scrotum in cases of torsion of the testicular appendage, and may be enough evidence to rule out testicular torsion, but if in doubt err on the side of caution and assume the testicle is torted until you can prove otherwise.

Answer 57

E. Anti-tTG antibody serology

Answer 58

A. The average life expectancy of someone with cystic fibrosis is around 35-40 years

Answer 59

D. Give a prostaglandin infusion and consider a balloon atrial septostomy This is a presentation of dextro-Transposition of the Great Arteries, where the Pulmonary Artery and Aorta have essentially been swapped. This creates two separate circulations that can only mix through fetal circulatory adaptations (foramen ovale and ductus arteriosus). These adaptations usually close at birth or within a few days, and if there are no other defects that allow mixing of the two circulations (e.g. septal defects) then the baby will rapidly develop profound cyanosis and desaturation within the first few days of life. Prostaglandin infusion prevents closure of the ductus arteriosus to maintain mixing between the circulations, and a baloon atrial septostomy is an emergency measure used to perforate the atrial septum to re-link the two circulations if needed. Transposition of the Great Arteries is an example of a 'duct-dependent circulation'. Other examples include pulmonary atresia, hypoplastic left heart syndrome, Aortic arch interruption and coarctation of the Aorta. These conditions will present similarly, and all require the same initial management of maintaining a patent ductus arteriosus. NB: Tetralogy of Fallot may be duct-dependent if pulmonary atresia features

Answer 60

C. Laryngomalacia Laryngomalacia is the most common cause of stridor in children and occurs due to a lack of tone in the immature upper airway. This usually presents as stridor with no other symptoms or complications, and in the majority of cases it will self-resolve in time. Surgery may rarely be necessary.

Answer 61

D. Advise her father to keep her at home until the vesicles form pustules and crusts over People with chicken pox are most infectious in the few days before they develop a rash, but once the rash degenerates into pustules and all pustules have crusted over, they are no longer infectious.

Answer 62

E. Give 0.15mg/kg oral dexamethasone In reality this is probably case dependent, but according to NICE all Croup patients gets oral dexamethasone regardless of severity. Admission of a child with Croup is dependent on severity of the disease: if there is stridor at rest, sternal/ intercostal recession, or agitation or lethargy the child should be admitted.

Answer 63

E. Give her Varicella-Zoster Immunoglobulin Because this woman is immunosuppressed, she is at risk of infection with VZV, and if infected she is at risk of particularly nasty disease e.g. pneumonitis, disseminated disease, encephalitis. Even immunocompetent adults are at increased risk of VZV pneumonitis if they are not immune, so this woman is particularly high risk. People with chicken pox are most infectious in the few days before they develop a rash, and given how infectious chicken pox is, it is likely she has caught it. Accordingly she needs Immunoglobulin to protect her from developing infection.

Answer 64

C. Congenital diaphragmatic hernia - pulmonary hypoplasia This is a description of a presentation of a congenital diaphragmatic hernia: a condition where bowel herniates into the chest cavity (usually the left side) and compresses the lung. This condition carries a high mortality which is mostly dependent on the degree of accompanying pulmonary dysplasia. There are differing suggestions as to how the hernia causes the dysplasia, whether it compresses the lung and prevents it developing, or whether the two issues share an embryological causative defect.

Answer 65

B. Biliary atresia Though it would seem that biliary atresia should present within the first few days of life, it usually presents in the 2nd-3rd week of life. This is because the biliary tree initially forms, but is then rapidly fibrosed and obliterated within the first couple of weeks of life. There is often heptomegaly, and splenomegaly may develop secondary to portal hypertension. The definitive management is surgical.

Answer 66

E. Exhaustion Whilst number values are important in classifying asthma attacks, at the more severe end of the scale there is increased importance placed on clinical impression of the patient (e.g. do they look exhausted or do they seem confused). Asthma attacks are classified as follows: Moderate acute: PEFR >50-75% best/predicted (at least 50% best or predicted in children), normal speech with no severe features. Severe acute: PEFR 33-50% best/predicted, (less than 50% best or predicted in children) or RR of at least 25/min in >12 years, 30/min in 5-12 years, and 40/min in 2-5 years, HR at least 110/min in >12 years, 125/min in 5-12 years, and 140/min in 2-5 years, or inability to complete sentences in one breath, or accessory muscle use, or inability to feed (infants), with oxygen saturation of at least 92%. Life-threatening acute: PEFR less than 33% best or predicted, or oxygen saturation of less than 92%, or altered consciousness, or exhaustion, or cardiac arrhythmia, or hypotension, or cyanosis, or poor respiratory effort, or silent chest, or confusion.

Answer 67

C. Ebstein's anomaly Ebstein's anomaly is classically linked to lithium use in pregnancy, and is commonly associated with an atrio-septal defect or patent foramen ovale.

Answer 68

7 APGAR score is a tool for quickly assessing the health of a newborn and deciding whether they will need to be sent to a high support ward. The APGAR should be assessed at 1, 5, and 10 minutes and is scored as follows: A - Activity: 0 for floppy, 1 for some flexion, 2 for flexed and resisting extension P - Pulse: 0 for no pulse, 1 for pulse <100 bpm, 2 for pulse >100 bpm G - Grimace: 0 for no response to stimulation, 1 for grimace or weak cry when stimulated, 2 for strong cry when stimulated A - Appearance: 0 for blue or pale all over, 1 for mostly well coloured but peripherally blue, 2 for well-coloured all over R - Respiration: 0 for apnoeic, 1 for slow irregular breathing, 2 for vigorous cry implying strong breathing

Answer 69

B. They can follow the normal vaccination schedule from birth

Answer 70

E. Recommend an enuresis alarm

Answer 71

D. Fragile X syndrome Fragile X syndrome is the second most common genetic cause of severe learning disability (after Down syndrome). It is an X-linked ]cndition that develops due to an increased number of CCG repeats in the FMR1 gene on the X chromosome. When the number of these repeats expands to a certain point, the long arm of that chromosome becomes fragile and may appear broken on cytogenetic analysis, which is where the condition gets its name. It is difficult to call Fragile X either dominant or recessive: it affects women who carry the gene in 40-50% of cases, but may be passed on from an unaffected male to his grandchildren. This is because the number of trinucleotide repeats increases with each generation until the FMR1 gene is eventually dysfunctional and causes disease.

Answer 72

B. Duodenal atresia Duodenal atresia is associated with Down syndrome rather than DiGeorge syndrome. There is some disagreement about the classification of DiGeorge syndrome which is generally, but not always, used synonymously with CATCH22 syndrome or 22q11.2 deletion syndrome. This is because there used to be multiple different names for what are now thought to be presentations of the same disease involving deletions at the 22q11.2 position. CATCH22 is both a name for this syndrome and a helpful acronym fro remembering some of its features: C - congenital cardiac abnormalities (e.g. interrupted aortic arch, PDA, tetralogy of Fallot) A - abnormal facies T - thymic aplasia (leading to impaired T-cell immunity) C - cleft palate H - hypoparathyroidism 22 - the chromosome on which the deletions occur Other important features include renal anomalies, autoimmune disorders, hearing loss, learning difficulties, and psychiatric disorders (especially schizophrenia which is very strongly associated).

Answer 73

D. Record his height and weight and plot it on his chart This is a classic presentation of Toddler's diarrhoea - a harmless but unpleasant diarrhoea. It is the most common cause of persistent diarrhoea in a young child and does not affect the child's growth, so the most important thing to do to both confirm the diagnosis and monitor the child's development, is to measure their height and weight and plot it on their chart.

Answer 74

E. Rectal biopsy Hirschprung's disease is a 1 in 5000 condition caused by an absence of parasympathetic nerves in the rectum +/- colon. The affected bowel is hypertonic and cannot relax to allow to stool to pass. The definitive diagnostic method is rectal biopsy on which there will be an absence of ganglion cells.

Answer 75

B. A therapeutic enema A therapeutic enema is the least invasive way of resolving an intussusception and is suitable in this child who has no symptoms worrying enough to suggest they need urgent surgery. If therapeutic enema fails, then reduction will be attempted laparoscopically, and the last resort is bowel resection if reduction fails or if the bowel is already necrotic. Depending on the circumstances this may need to be open or laparoscopic. It is important to monitor the child for 24 hours after reducing the intussusception, as there is a high rate of recurrence within the first 24 hours. If a child has multiple intussusceptions, they should be investigated to find a pathology in the bowel that is causing this.

Answer 76

A. An obese 10 year old boy presenting with a limp with a background of hypothyroidism - SCFE B. A 13 year old girl presenting with knee pain with restricted internal rotation of the affected leg - SCFE C. A 10 year old whose hip x-ray shows flattening and sclerosis of the right capital femoral epiphysis - Perthe's disease D. An 8 year old boy presenting with a painless limp and no abnormalities on a hip x-ray - Perthe's disease

Answer 77

A. Haemolytic anaemia Jaundice in the first 24 hours of life is usually pathological, though if it presents after this period then it is probably physiological. The two most common causes of jaundice int he first 24 hours are haemolytic anaemia and congenital infection. In this case the underlying haemolytic anaemia would need to be addressed, but the jaundice itself is also a problem because if the serum level becomes high enough it will deposit in the basal ganglia and brainstem and cause kernicterus - an encephalopathy that can be associated with severe morbidity and mortality.

Answer 78

B. Systemic-onset juvenile idiopathic arthritis Also known as juvenile Still's disease, this is the systemic form of a group of disorders grouped together under juvenile idiopathic arthritis (JIA). JIA is the most common chronic inflammatory joint disease in children and affects ~1 in 1000 children in the UK. There are multiple diseases within JIA that are divided based on the number of joints they affect. Any form of JIA can cause extra-articular features, and systemic-onset JIA is particularly known for this. Some important extra-articular features of JIA are: Chronic anterior uveitis - initially asymptomatic but may impair sight if not dealt with Flexion contractures Growth stunting - as a consequence of anaemia, chronic inflammation, or steroid therapy

Answer 79

C. Arrange an USS of the baby's hip before they are 6 weeks old If a baby is in the breech position in the last month of pregnancy, they are at increased risk of developmental dysplasia of the hip (DDH) and will need an USS before they are 6 weeks old to assess for DDH. If the hip feels unstable on examination, they will need an USS before they are 2 weeks old, though it is worth noting there is a high false positive rate in infants under 6 weeks.

Answer 80

C. Order an MRI of the affected hip This is a history of Perthe's disease (a.k.a. Legg-Calvé-Perthe's disease) which is avascular necrosis of the femoral head. It typically presents in children aged 5-10 and is more prevalent in boys. Its onset can be insidious as it may present with a painless limp, then as the disease progresses you will see leg shortening on the affected side and quadriceps wasting.

Answer 81

A. Infantile spasms Infantile spasms (a.k.a. West syndrome) is a particular childhood epilepsy syndrome that occurs in 3-12 month olds and are characterised by the pattern described here: neck, trunk, and limb flexion for a couple of seconds followed by limb extension which is repeated 20-30 times per episode. Episodes are common upon waking and may repeat multiple times per day. Though the name suggests these may be benign, there is usually an underlying pathology and these children will require an EEG, which will show hypsarrhythmia . Most of these children will experience developmental delay and ongoing epilepsy.

Answer 82

B. Prescribe a short course of desmopressin to cover the school trip This question is essentially about how this boy's enuresis should be managed for the short duration of the school trip. In these cases it is appropriate to prescribe a short course of desmopressin to give rapid control, even if other options for controlling the enuresis have not yet been explored. The desmopressin may well not be continued long-term as you search for other ways to manage the child, but it is appropriate to give it short term for the sake of this child's peace of mind and dignity.

Answer 83

C. It occurs in 1 in 2000 babies, and most often in boys DDH is more common than this (occurs in 1-2 per 1000 newborns) and is 4 times more common in girls. Abnormality of the hip on the newborn exam is not necessarily indicative of DDH - 6-10 per 1000 newborns have some abnormality at birth but most of these will spontaneously resolve. DDH describes abnormal acetabular development, which occurs because the femoral head is not in contact with the acetabulum. This contact is essential for normal acetabular development, and so its absence leads to hip dysplasia.

Answer 84

A. A 3 year old who had a generalised seizure. They also had one a year ago and were seen in hospital but assessment revealed nothing concerning - discharge home B. A 2.5 year old with a seizure and a fever, but no obvious focus of infection - admit C. A 10 month old who had a witnessed 10 second generalised seizure and who has been febrile for 2 days - admit D. A 2 year old who was taking antibiotics from the GP for a fever for a day and then had a generalised seizure - admit There are many criteria for admission of a child with suspected febrile seizures including: Uncertain focus of infection/ uncertainty about cause of seizure Age under 18 months (classical features of meningitis are harder to spot) There are residual focal neuro deficits or reduced consciousness prior to seizure There are signs of it being a complex febrile seizure The child has been taking antibiotics (may mask meningitis) This is their first febrile seizure There are social features precluding discharge

Answer 85

1. A swelling on a neonate's head that does not cross suture lines and will self-resolve over several weeks - C. Cephalohaematoma 2. A transient swelling particular to babies delivered using a Ventouse - B. Chignon 3. A rare but dangerous complication that causes a diffusely boggy scalp on examination - D. Subaponeurotic haemorrhage 4. Oedema and bruising of the skull that crosses suture lines and will dissipate in a few days - A. Caput succedaneum

Answer 86

B. She can continue breastfeeding as normal In most cases of neonatal jaundice breastfeeding can continue, especially in this one as the baby's bilirubin is not particularly elevated and does not currently require any treatment. 'E' is incorrect because breastfeeding does increase the chance of jaundice, but in most cases the jaundice is transient and harmless.

Answer 87

B. Initiate exchange transfusion There are NICE guidelines that dictate the threshold for phototherapy and exchange transfusion in neonates with jaundice. There is not much point in learning every number in depth, but it's important to know that a serum level of 490 mcmol/l indicates a need for exchange transfusion at any age (the threshold is 450 of above for a child that is 42 hours old or more, but is lower for younger children). Similarly the threshold for phototherapy increases with the child's age, flattening out at 350 mcmol/l for children 96 hours old or above. This is the threshold bilirubin level table for reference: https://www.nice.org.uk/guidance/cg98/chapter/recommendations#threshold-table

Answer 88

D. Tetralogy of Fallot Tetralogy of Fallot is a constellation of four heart defects occurring together: Infundibular/ valvular pulmonary stenosis (or atresia) Right ventricular hypertrophy Overriding Aorta Ventriculo-septal defect Assuming it is not detected on antenatal screening, this classically presents at 1-2 months of age with cyanotic spells that usually self-resolve and are followed by sleep. Though a few will present with cyanosis at birth, many will not be cyanotic, and will be picked up later based on cyanotic spells, or will have a heart murmur that is detected. Prognosis with timely surgery is good: 90% survive to adulthood, and of these 90% lead a fairly normal life.

Answer 89

C. Meckel's diverticulum A Meckel's diverticulum is a remnant of the embryological Vitelline duct which persists in 2% of people. It is usually asymptomatic but may present suddenly with severe haemorrhage - the blood is classically too light for melaena and too dark for superficial haemorrhage. Meckel's diverticulum may also predispose to intussusception, volvulus, or diverticulitis which mimics appendicitis.

Answer 90

Mean age of onset: 11 for girls 12 for boys First physical sign: Breast enlargement for girls Testicular enlargement for boys Age at which puberty is considered precocious: Before 8 for girls (or menstruation before 9) Before 9 for boys NB: Girls will usually have their first period 2 years after beginning puberty

Answer 91

B. Plagiocephaly This is plagiocephaly - a common benign condition where the head becomes moulded into a slightly abnormal shape. It has become common since the advent of the 'back to sleep' campaign to reduce SIDS incidence, and usually self-resolves as babies develop and spend more time upright. Turning children to spend time awake on their tummies and changing their sleeping pattern by moving the cot in the room will help.

Answer 92

E. A CNS tumour In cases of precocious puberty, it is important to distinguish whether the cause is gonadotrophins or adrenal hormones. In boys the key is testicular volume: if it is above 4ml then the boy has started puberty and this indicates a gondaotrophin-dependent precocious puberty. Gonadotrophin-dependent causes are less common, and generally cause a consonant pubertal progression (all the signs of puberty appear together as they should, but earlier). Causes include CNS injury (infection, irradiation, trauma, tumour), and hypothyroidism. Hypothyroidism is unlikely in this case as it should have been detected on the heel prick test, making a CNS tumour the most likely cause. It is worth noting that CNS damage may also cause delayed puberty, so it is not specific and depends on exactly what damage has been done.

Answer 93

A. Prescribe a single dose of Mebendazole for the entire household This is a classic history of threadworm infection - a very common parasite that usually affects children under 18. It classically presents with intense peri-anal itching that is worse at night and may spread to the vulva in girls. It can be treated with a single dose of Mebendazole alongside hygiene measures (e.g. hot washing all bedsheets). As threadworms are so infectious, it is generally advised to treat the entire household provided there are no contraindications.

Answer 94

E. Send the child urgently to hospital for assessment This is an important point: limp in a child under 3 should always be referred to hospital unless there is an obvious benign cause. This is because this age group are especially at risk of septic arthritis and abuse injuries. It is tempting to think this history indicates transient synovitis, but transient synovitis is usually not seen in children under 3 (though it is the commonest cause of acute hip pain in children between 3-10).

Answer 95

C. HHV6 This is a typical case of roseola infantum - an infection caused by either HHV6 or HHV7 (but HHV6 is more common). It is harmless and self-limiting and affects most children before the age of 2. The clue in the history is that the fever breaks as the rash appears. The rash in roseola is typically described as 'centrifugal' (it begins on the trunk then spreads outwards). NB: HHV6 infection is particularly associated with febrile seizures

Answer 96

D. The baby's anticipated milestone ages need to be adjusted based on their expected delivery date Children born prematurely will develop milestone skills at a normal time relative to their expected delivery date. E.g. a child born 2 months premature might start walking at 14 months rather than 12. This stops being relevant around the age of 2. NB: This is usually calculated assuming birth at 40 weeks from the last menstrual period

Answer 97

1. An elfin appearance, supravalvular aortic stenosis - B. Williams syndrome 2. A broad forehead, drooping eyelids, widely spaced eyes, pectus excavatum, and pulmonary stenosis - D. Noonan syndrome 3. Widely spaced nipples, webbed neck, infertility, and increased risk of aortic valve disease - A. Turner's syndrome 4. Absent philtrum, thin top lip, and a saddle-shaped nose - C. Fetal alcohol syndrome

Answer 98

E. Hypothermia Bed sharing is the biggest risk factor for SIDS, which is defined as unexplained death in a child under 1 year of age. Hyperthermia, not hypothermia, is a risk factor.

Answer 99

B. Meconium aspiration Post date gestation, maternal hypertension, and smoking are all risk factors for aspiration of pneumonia. A key clue (though not mentioned here) is the presence of meconium in the liquor (the amniotic fluid when the membranes rupture).

Answer 100

D. Reassure the mother this is normal A non-retractile foreskin is physiological for boys under the age of 2, and it begins to become more retractile between 2-6, though the timescale is variable. The concerning sign would be if the rim of the foreskin does not evert at all, or if there is evidence of scarring. This would be indicative of a true phimosis, most often balantitis xerotica obliterans.

Answer 101

A. Appendicectomy This is a history of appendicitis; though the urine dipstick results might seem to indicate a UTI, this is actually a common finding in appendicitis.

Answer 102

B. Mesenteric adenitis Mesenteric adenitis refers to inflammation of mesenteric lymph nodes causing abdominal pain, and is an important condition as it may mimic appendicitis. In the absence of markers of infection and the more severe clinical picture of appendicitis, and with the background of viral illness, mesenteric adenitis becomes more likely

Answer 103

C. Retinoblastoma Retinoblastoma is the most common ocular malignancy in children. It is heritable (and helped form our understanding of heritable cancers) with around 20% of unilateral cases being hereditary, and all bilateral cases. The characteristic presentation is either an incidental finding of loss of the red reflex of the eye, which is replaced by the white reflex, or squint.

Answer 104

D. Lactose intolerance Lactose intolerance can occur after viral gastroenteritis, causing diarrhoea, abdominal cramps, and nausea. This usually responds well to withdrawal of lactose from the diet for a couple of months, followed by slow re-introduction.

Answer 105

1. A high fever for a few days which disappears, and is then followed by a rash - D. Roseola 2. Parotitis and orchitis - B. Mumps 3. A prodrome of cough, conjunctivitis, and coryza, followed by a rash that starts on the face, and white spots in the buccal mucosa - A. Measles 4. Vesicular rash on the hands, feet, and mouth - Coxsackie A16 5. A rash starts on the face then spreads and persists for 3-5 days, often features sub-occipital and post-auricular lymphadenopathy - C. Rubella 6. Causes a 'slapped cheek' rash starting on the face then spreading - E. Parvovirus B19 7. Sandpaper-rough rash and strawberry tongue - G. Scarlet fever

Answer 106

E. Nephroblastoma Nephroblastoma (Wilm's tumour) is the most common renal tumour of childhood, presenting usually in children aged 5 or under. It typically presents with painless haematuria and a flank mass. The prognosis is good with a high cure rate after chemotherapy and resection, but it is poor if there is recurrence.

Answer 107

A. Autosomal recessive polycystic kidney disease Sometimes known as 'infantile polycystic kidney disease', ARPKD is a rare condition causing bilaterally enlarged kidneys, hypertension, hepatic fibrosis, and chronic kidney disease. The prognosis is poor (the dominant form presents much later and is more benign) and affects many children even before birth. The condition can impair breathing as the enlarged kidneys exert pressure on the lungs.

Answer 108

D. Admit and monitor, give supportive management, advise Pavilizumab prophylaxis This is a history of bronchiolitis - a very common childhood respiratory infection in the winter months usually caused by Respiratory Syncytial Virus (RSV). The treatment of bronchiolitis is mostly supportive and the important decision to be made is whether to admit the child or not. A child with bronchiolitis should be admitted if: They have persistent respiratory distress (RR >70, grunting, intercostal recessions) They have apnoea Their O2 sats are persistently <92% Their fluid intake is inadequate (50-75% of normal depending on clinical background) They have health problems or risk factors putting them at increased risk of severe disease e.g. prematurity This child's premature delivery also means they should be considered for Pavilizumab prophylaxis against bronchiolitis during the winter months. As for the other options: 'A' is the treatment for Croup 'B' is wrong because CXR is not routinely indicated in bronchiolitis, though may be needed if the baby is being sent to intensive care 'C' is true regarding the course of the infection, but this baby should be admitted 'E' is wrong because supplementary oxygen should only be used to keep sats above 92, 98 is not necessary

Answer 109

E. The child's refusal carries no weight in law, and the doctors are obliged to act in the child's best interests The law around a child's refusal is a little confusing: The tenets of capacity under the Mental Capacity Act (2005) do not apply to under 18s The 16-18 age range is a very grey area An under 16 does not have the right in Law to refuse medical treatment An under 16 may be able to consent to treatment in their best interests if they are Gillick competent, but this does not allow them to refuse It is the doctor's responsibility to proceed in a child's best interests, which often includes listening to the wishes of the child There may be some medical interventions where the consequences of forcing treatment on a child outweigh the benefits, so it would not be in their best interests and the child's wishes are respected However in cases where treatment is needed for a life-saving intervention, it will always be in the child's best interests to be treated

Answer 110

C. In this situation, it is in Lola's best interests to have the blood test and begin treatment. Therefore Dr A should obtain R's consent and proceed. Given her alcohol intake and drowsiness it is probable that Lulu is not Gillick competent. At 15 she is presumed to lack competence and her behaviour in A+E has done nothing to suggest that she is mentally competent. The clinical information indicates that she has taken a substantial quantity of paracetamol together with a large amount of alcohol which will increase the risk of fulminant liver failure. Therefore the blood test and treatment with N-acetyl-cysteine are needed as a matter of urgency and would clearly be in her best interests. Her mother is present and therefore her consent should be obtained before proceeding. It would only be acceptable to proceed without consent on the basis of best interests if there was no one available with parental responsibility. NB: This question is taken from the Year 5 Imperial Ethics e-module

Answer 111

A. A 3 year old with bone pain causing a limp, and some easy bruising - 6. Acute lymphoblastic leukaemia B. A 4 year old with a limp, an abdominal mass, and hypertension - 5. Neuroblastoma C. An 8 year old boy with painless limp and normal x-ray hip - 3. Perthe's disease D. A 5 year old with acute hip pain who had an URTI a week prior - 1. Transient synovitis E. A 2 year old with a femoral metaphyseal fracture - 7. Non-accidental injury

Answer 112

E. Reassess the baby at 5 minutes This is admittedly a trick question, but a useful one. Within the first few minutes of life, saturations are very low and this is normal. By 10 minutes the baby should be saturating at 90%, but sats of 60% at 1 minute are acceptable. This baby is clearly otherwise well: it has a good HR, and is breathing okay (as evidenced by a loud cry). It is peripherally cyanosed, but transient cyanosis is quite common initially and will usually disappear, hence the SHO should wait and reassess.

Answer 113

D. In this situation, Ms T should proceed with the blood transfusion as it is in Coco's best interests Coco is 6 and severely unwell and will not be Gillick competent. The doctor has a legal duty to act in Coco's best interests. She may die without an immediate blood transfusion and therefore Ms T must override the refusal of Coco's mother and proceed on the basis of best interests. The Courts in England and Wales have made it clear that they will not allow parents to martyr their children on the basis of the parents' religious or cultural beliefs. The fact that a parent's refusal is irrational is not alone sufficient legal justification for overriding parental refusal. Overriding parental refusal will only be justified when it is in the child's best interests. NB: This question is taken from the Year 5 Imperial Ethics e-module

Answer 114

B. Trial omeprazole

Answer 115

A. Still's murmur - 4. A vibratory bassoon-like murmur heard at the left sternal border in the supine position B. An atrial septal defect - 3. An ejection systolic murmur heard best at the upper left sternal edge, with a fixed and widely split S2 C. A patent ductus arteriosus - 1. Continuous machinery-like murmur in the aortic area D. A venous hum - 5. A continuous sound in the supraclavicular fossa (more so on the right) increased in deep inspiration E. Transposition of the Great Arteries - 2. Single loud S2 and prominent ventricular pulse on palpation

Answer 116

A. Micturating cystourethrogram This is a history of vesicoureteral reflux, where the ureters enter the bladder at less of an angle than normal, so urine may easily reflux back towards and into the kidneys. It is usually asymptomatic, but if severe enough it can cause recurrent or severe UTIs. The clue in this history is the severe episode of pyelonephritis, that causes sepsis, did not respond well to antibiotics, and was caused by a non E. coli organism. Vesicoureteral reflux is familial in 30-50% of cases, and frequently improves with age as the ureters lengthen with normal growth and reflux becomes less likely. A micturating cystourethrogram can be used to diagnose it, though an USS would probably be done first. A DMSA radionucleotide can help identify renal scarring, which may be a worrying consequence of recurrent or severe UTIs.

Answer 117

C. Reassure the father and tell him this is not usually treated until the child is 3-4 years old Umbilical hernias are very common in children and will not usually be addressed until the child is 3-4 because the vast majority will spontaneously resolve. This father should be informed of the signs of incarceration and strangulation as a safety net, and should be told to go to A&E if the child develops vomiting or abdominal pain, if the hernia is no longer reducible or becomes inflamed, or if his son stops passing stool.

Answer 118

D. He should keep the lump clean and dry and it will self-resolve, though salt treatment might help This is an umbilical granuloma, a harmless growth in the umbilicus that is common in the first few weeks of life. It will resolve on its own, but the father should keep it clean and dry and be alert for signs of infection. Treatment with salt may help it to resolve more quickly.

Answer 119

B. Bronchopulmonary dysplasia Bronchopulmonary dysplasia is defined as a persistent oxygen requirement at 36 weeks post-menstrual age. It generally affects preterm babies born before 30 weeks (the earlier the more likely), and it associated with neonatal infection, and complications necessitating supplementary oxygen or ventilation. High fractions of inspired O2 are toxic to the neonatal lung, and are compounded by over-ventilation causing barotrauma. Generally speaking children with bronchopulmonary dysplasia will improve, though some will have lung disease alter in life.

Answer 120

A. 3 spike wave per second pattern bilaterally This question serves mostly to highlight an important buzz-phrase in SBAs: '3 spike wave per second/ 3Hz spike wave pattern bilaterally'. This pattern is indicative of childhood absence epilepsy, which is examined fairly regularly. Childhood absence epilepsy presents between 4-12, and usually remits without progressing to lifelong epilepsy. This is in contrast to juvenile absence epilepsy, which presents in a later age bracket (10-20) and is generally lifelong.

Answer 121

A. I.V. Cefuroxime and Gentamicin This is a history of pyelonephritis, the first line treatment of which is either oral Cefalexin or oral Co-amoxiclav. However oral treatment is inappropriate for this patient, both because they are vomiting and because they are seriously unwell. I.V. Co-amoxiclav may be used, but only in combination or if susceptibility is known. I.V. Cefuroxime is a good antibiotic to provide Gram positive cover, and Gram negative cover can be well bolstered by adding an aminoglycoside e.g. Gentamicin. Nitrofurantoin and Trimethoprim are used to treat UTIs but not pyelonephritis.

Answer 122

1. A rash affecting dry skin that mostly affects the face and trunk - B. Atopic dermatitis/ Eczema 2. A nappy rash that spares the creases - C. Irritant dermatitis 3. An erythematous rash involving the deep folds and genitals with white lesions - D. Candida dermatitis 4. A scalp rash with greasy skin with yellow skin flakes - A. Seborrheic dermatitis

Answer 123

B. Delayed resorption of fluid in the lungs This is the mechanism underlying transient tachypnoea of the newborn - the most common cause of neonatal respiratory distress. It is more common in C-section births, presumably because the baby isn't passed through the vaginal canal, which normally helps to force fluid out of their lungs.

Answer 124

B. A blood film Jaundice within the first 24 hours of life is essentially always pathological, and is caused either by haemolysis or congenital infection. Accordingly a blood film would be the most likely investigation to reveal a cause

Answer 125

A. Persistent pulmonary hypertension Persistent pulmonary hypertension (PPH) is when the fetal pulmonary circulation fails to adapt to extra-uterine life. Usually the first breaths of an infant clear the lungs of fluid and trigger release of chemical mediators which reduce pulmonary pressure. In cases of PPH, the pressure remains high which creates a right-left shunt within the heart through the foramen ovale and ductus arteriosus, which are still open at this point; this causes hypoxia and cyanosis. A significant clue in the history is that giving high flow oxygen will not particularly improve the sats, as the blood flow through the lungs is the limiting factor. Management includes correcting pH and electrolyte imbalances, ventilation, surfactant therapy, and inhaled nitric oxide. High flow oxygen is also given as it may trigger vasodilation in the lungs. If these measures don't work, cardiovascular support with inotropes or even ECMO may be needed. Other lung pathology e.g. RDS, meconium aspiration, and pneumothorax are risk factors for PPH, as is maternal SSRI use in pregnancy.

Answer 126

C. Cow's milk protein intolerance Cow's milk protein allergy can cause a similar presentation to coeliac disease - diarrhoea and faltering growth. The major clues are the age of onset and a family history of atopy. The age of onset is significant in this case because the issued would have started immediately after weaning of the child, which suggests a dietary cause. NB: Cow's milk protein intolerance and allergy are the same thing, but lactose intolerance is not

Answer 127

D. Eat a high calorie, high fat diet with enzyme supplements for each meal

Answer 128

B. A bicuspid aortic valve

Answer 129

E. Review and plot serial weights and heights The most important question to answer when investigating a child with suspected growth problems is whether they have dropped off their centile. This is generally the best indicator of a pathological growth issue and can only be assessed by plotting serial heights and weights. NB: This question is reproduced from a set of formative SBAs from Blackboard

Answer 130

C. Calculate the difference between the current weight and the predicted weight from the child’s growth records Paediatricians bring this up all the time so it is a good fact to know. NB: This question is reproduced from a set of formative SBAs from Blackboard

Answer 131

E. Wheeze on auscultation An Epipen will activate adrenoceptors causing vasoconstriction and bronchodilation. This temporarily alleviates the two main problems in anaphylaxis: hypotension and airway constriction. However the wheeze on auscultation is the feature requiring the most urgent attention because it can kill a child quickest. The low blood pressure is concerning, but on its own is not something that requires immediate rectification. NB: This question is reproduced from a set of formative SBAs from Blackboard

Answer 132

E. Urinary tract infection UTIs are far more common in females than females, and may produce infection without localising signs. NB: This question is reproduced from a set of formative SBAs from Blackboard

Answer 133

A. C1 esterase inhibitor C1 esterase inhibitor deficiency is also known as hereditary angioedema. NB: This question is reproduced from a set of formative SBAs from Blackboard

Answer 134

A. Iron deficiency The introduction of cow's milk to a child's diet in the first year of life is the most significant risk factors for iron deficient anaemia. This is because it is low in iron, what iron it has is poorly absorbed, and it impairs absorption of iron from other sources. The ejection systolic murmur is a features of anaemia, presumably from the compensatory increase in cardiac output highlighting a previously unheard innocent murmur NB: This question is reproduced from a set of formative SBAs from Blackboard

Answer 135

B. Cerebral infarction Though a stroke in a 10 year old is unusual, patients with sickle cell disease are at greater risk of infarction because their abnormally shaped RBCs get wedged in vessels and occlude them. Omitting the child's age from the question, this would be a classic presentation of stroke. NB: This question is reproduced from a set of formative SBAs from Blackboard

Answer 136

C. Complement C3 and C4 levels This is a history of post-streptococcal glomerulonephritis, with oedema, haematuria, and proteinuria being the main signs. Hypertension is also a common finding, though it is not present here. C3 is low in post-streptococcal glomerulonephritis. NB: This question is modified from a set of formative SBAs from Blackboard

Answer 137

C. Malrotation Malrotation refers to failure of the normal embryological rotation of the intestine which predisposes it to intussusception, volvulus, and obstruction. This is a background of multiple self-resolving obstructions. NB: This question is reproduced from a set of formative SBAs from Blackboard

Answer 138

D. Juvenile idiopathic arthritis This is specifically a history of systemic-onset juvenile idiopathic arthritis (Still's disease). Juvenile idiopathic arthritis (JIA) is defined as persistent joint swelling for >6 weeks in an under 16 year old with no other identifiable cause. JIA is the most common chronic inflammatory joint disease in children in the UK, and there are multiple different subtypes. Systemic JIA may feature general malaise and febrile illness, serositis, anaemia, lymphadenopathy, hepatosplenomegaly, neutrophilia, and thrombocytosis. However the big giveaway in the exam is the presence of 'a salmon-pink rash'. NB: This question is reproduced from a set of formative SBAs from Blackboard

Answer 139

E. Salbutamol I.V. An acute asthma exacerbation in children should be treated with nebulised salbutamol. Ipratropium bromide can be added in children with a poor response, as can magnesium sulphate in severe cases. Oral prednisolone should also be given in all acute cases of asthma, but is not the most pressing step here as it will not quickly resolve the exacerbation. If the attack persists despite these measures, the child's care should be handled by a specialist team and they will probably require transfer to HDU or PICU. In cases that do not respond to inhaled therapy, I.V. Magnesium sulphate is used as the first line intravenous treatment. After that either I.V. Salbutamol or Aminophylline may be considered. NB: This question is modified from a set of formative SBAs from Blackboard

Answer 140

C. Nutritional Rickets Babies that are exclusively breastfed after 6 months (and certainly those breastfed for 15 months) are at increased risk of vitamin D deficiency causing rickets. This is because breast milk is not a good source of vitamin D. Premature babies are also at increased risk of vitamin D deficiency because normally stores are built up while the baby is in utero, and premature babies have less time in utero. NB: This question is reproduced from a set of formative SBAs from Blackboard

Answer 141

B. Congenital hypothyroidism Hypotonia, poor growth, prolonged neonatal jaundice, hyporeflexia, and developmental delay are all signs of congenital hypothyroidism. The history of birth outside the UK is important, as this may imply that a heel prisk test was not performed, which would otherwise have detected congenital hypothyroidism. NB: This question is reproduced from a set of formative SBAs from Blackboard

Answer 142

E. Tracheoesophageal fistula A tracheo-oesophageal fistula is an abnormal lumen between the trachea and the oesophagus. Most cases usually involves the oesophagus ending in a blind pouch rather than connecting to the stomach, though this case does not as it would have presented earlier. Choking or cyanosis during feeds is a typical sign, as is polyhydramnios during pregnancy as the fetus cannot swallow the amniotic fluid well. NB: This question is reproduced from a set of formative SBAs from Blackboard

Answer 143

D. Respiratory distress syndrome NB: This question is reproduced from a set of formative SBAs from Blackboard

Answer 144

A. Coeliac disease NB: This question is modified from a set of formative SBAs from Blackboard

Answer 145

A. Congenital adrenal hyperplasia NB: This question is reproduced from a set of formative SBAs from Blackboard

Answer 146

D. Meconium aspiration NB: This question is reproduced from a set of formative SBAs from Blackboard

Answer 147

C. She wakes from sleep with pain at night NB: This question is reproduced from a set of formative SBAs from Blackboard

Answer 148

C. An FBC and blood film This is a presentation of Acute Lymphoblastic Leukaemia (ALL) which makes up 80% of childhood leukaemia cases, making it the most common childhood cancer. It does not have a familial component, though is associated with some genetic disorders e.g. Down syndrome. It most commonly presents in children aged 2-5 years.

Answer 149

D. Reassure and discharge This is a very standard description of growing pains. There are a set of 'rules' to which growing pains must conform without raising suspicion of another diagnosis: Age range 3-12 years Pain in lower limbs, symmetrical, and not limited to joints Pains never present on waking Physical activity not impeded; no limp Examination (inc. gait) normal and otherwise well (hypermobility is an acceptable finding)

Answer 150

D. The parents should be counselled on reducing sugar, artificial colourings, and additives in the child's diet There is no good evidence for the commonly held belief that sugar or artificial additives make children 'hyper' or that they contribute to ADHD. A child with ADHD should eat a balanced diet and exercise regularly, just as any other child. That said, individuals will sometimes develop their own peculiar behavioural reaction to some foods in which case exclusion may be helpful, but this is not routinely helpful or recommended.

Answer 151

D. Medulloblastoma The symptoms described here are related to increased intracranial pressure (morning vomiting) and cerebellar dysfunction (ataxia, squint, abnormal eye movements). Medulloblastoma is the most common primary brain malignancy in children and presents with cerebellar signs because it originates in the posterior fossa and presses on the cerebellum. NB: Astrocytomas are more common than medulloblastomas, but encompass a wide range of tumour types, some of which are benign. Hence medulloblastomas are the most common brain malignancy.

Answer 152

E. A Ventriculoperitoneal shunt This is a history of hydrocephalus: a ventricular obstruction causing build-up of CSF in the ventricles. If enough fluid builds up, the baby's head will expand because the sutures haven't closed yet. A late sign is the 'setting Sun' sign of the eyes, which is the downward deviation mentioned. A shunt will help drain off excess fluid to relieve symptoms and prevent neurological damage.

Answer 153

1. De-pigmented 'ash leaf' shape macules and facial angiofobromas, and a strong association with neurological features e.g. epilepsy or learning difficulties - C. Tuberous sclerosis 2. Café au lait macules, and Lisch nodules in the eyes - A. Neurofibromatosis 3. A port wine stain in the distribution of the Trigeminal nerve with a matching intracranial lesion, and a high risk of ipsilateral glaucoma - B. Sturge-Weber syndrome

Answer 154

E. Spinal muscular atrophy SMA has a few different subtypes of differing severities, but most children with SMA present within the first few weeks or months of life and do not learn to walk. The prognosis is invariably poor: they usually do not survive past 1 year of age.

Answer 155

C. Retinal haemorrhages Retinal haemorrhage is a classic sign of a shaken baby, and will often go with subdural haemorrhage. All the other options are features of NAI/ child abuse but are not especially associated with baby shaking.

Answer 156

C. Abdominal migraine

Answer 157

C. Unusually imaginative in play The three core features of autism are: Impaired social interaction Impaired speech and language development Self-imposed ritualistic and repetitive routines There are multiple strongly associated co-morbidities to autism including: disorders of affect, seizures, ADHD, and learning/ attention difficulties Asperger's syndrome is a form of autistic spectrum disorder in which social impairment is more mild and language development is normal or near-normal.

Answer 158

D. Depleted C3 complement C3 is the complement factor common to both the classical and alternative pathways, and is depleted by the post-infectious autoimmune reaction that is post-Streptococcal glomerulonephritis. Muddy brown urinary casts are a sign of acute tubular necrosis (e.g. caused by ischaemia), and anti-Streptolysin titres should be high in this condition. A period of 4 days between infectious and renal symptoms would be suggestive of IgA nephropathy (Berger's disease) rather than post-Streptococcal glomerulonephritis which usually takes ~3 weeks to develop. Histology of this condition would not be normal - that is a reference to minimal change disease.

Answer 159

C. Order an AXR, start broad spectrum antibiotics This is a history of necrotising enterocolitis (NEC): a disease which affects preterm babies causing bowel necrosis and severe illness. Though it often presents soon after birth, the presentation may be delayed, especially in more preterm babies. Necrotising enterocolitis presents with vomiting (+/- bile) feed intolerance, and abdominal distension. As it progresses, frank blood will appear in the stool, and the baby will rapidly become acidotic and shocked. The abdominal distension and pain may necessitate mechanical ventilation. Surgical intervention is often needed to resect the necrotic bowel. This leads to predictable long-term problems with nutrition and bowel strictures. The mortality of NEC is 20% on average but may be higher (up to 50%) and there are significant sequelae associated with severe disease.

Answer 160

1. Micropthalmia, polydactyly, cleft palate - B. Patau syndrome 2. Rocker bottom feet, flexed overlapping fingers, micrognathia - A. Edwards syndrome 3. Almost invariably infertile by early-mid twenties, tall, poor muscle tone - D. Klinefelter syndrome 4. Associations with hypothyroidism, leukaemia, duodenal atresia, heart malformation, and atlanto-axial instability - C. Down syndrome

Answer 161

E. 18 months Before this age, the child will have its mother's antibodies against HIV in its blood. The antibody test can therefore only be used for diagnosis in children aged 18 months or older.

Answer 162

E. Premature thelarche Premature thelarche usually occurs in girls between the age of 6 months and 2 years, and is defined as isolated premature development. The size increase often fluctuates, and is not linked to true precocious puberty. This condition is typically self-limiting

Answer 163

D. Physical exam, hearing test The only two tests normally performed on all babies before they leave hospital after birth are a physical exam and a hearing test (otoacoustic emissions test). The heel prick is typically performed on day 5 of life by a visiting midwife. An USS of the hip is only done if the baby has a risk factor for DDH e.g. breech position for birth or from 36 weeks, family history.

Answer 164

C. Colic Colic is a very common childhood condition affecting up to 40% of babies usually in the first weeks or months of life. It is characterised by episodes of paroxysmal inconsolable crying and drawing of the legs up towards the abdomen, which is accompanied by passing wind. Acutely colic may mimic intussusception, and they may present at the same age. Even though presentation after prolonged symptoms would suggest colic, it is important to exclude intussusception as several episodes may occur then self-resolve, mimicking colic. This condition resolves spontaneously between 3-12 months of age, and there is no real treatment. This can obviously be very frustrating for parents. If the symptoms are severe or persistent, cow's milk allergy may be considered.

Answer 165

A. Antenatal Most cases of cerebral palsy (80%) occur as a result of a pre-natal event, e.g. cerebral malformation or congenital infection.

Answer 166

D. I.V. Cefotaxime and Ampicillin Steroids are not given in the treatment of meningitis if the child is under 3 months old, though it is given in bacterial meningitis in any older age groups. Ceftriaxone is generally avoided in children under 3 months as it can cause biliary sludging and jaundice; Cefotaxime is used instead. Either Ampicillin or Amoxicillin may be used, and must be added to the standard Cephalosporin in this age group because of the risk of Listeria monocytogenes meningitis which is not covered by 3rd generation Cephalosporins.

Answer 167

C. Anal atresia This is a tricky question as it essentially asks you for the diagnosis and its associated malformations. This is a history of a tracheo-oesophageal fistula (TOF) which is an abnormal connection between the trachea and oesophagus. This usually (86% of the time) co-exists with oesophegeal atresia - where the oesophagus ends in a blind pouch, and the fistula is between the trachea and the separate segment of oesophagus connected to the stomach. TOF and oesophageal atresia may each occur on their own without the other, but this makes up a small percentage of cases (4% and 8% respectively). If a child has a TOF, there is a 50% chance they will have another congenital malformation. The most commonly associated abnormalities are the VACTERL set: ``` Vertebral Anorectal Cardiac Tracheal (O)Esophageal Renal Limb ```

Answer 168

E. Periventricular leukomalacia Periventricular leukomalacia essentially describes the changes seen in the brain as a result of a hypoxic injury. This may be due to one of a range of factors before, during, or after birth. It is very strongly (80-90%) associated with cerebral palsy.

Answer 169

An inability to attend school on account of overwhelming anxiety School refusal typically refers to anxiety-based refusal to go to school, rather than truanting or conduct disorders in which a child refuses. This anxiety may stem from separation, or may be due to factors at school e.g. bullying.

Answer 170

1. May cause severe disseminated disease in perinatal infection, or congenital skin scarring, ocular damage, and limb deformity - B. Varicella-Zoster 2. Babies are born with a rash on their palms and soles, and bone lesions - D. Syphilis 3. Causes chorioretinitis, cerebral calcification, and hydrocephalus - E. Toxoplasmosis 4. Most common infectious cause of congenital deafness - C. Cytomegalovirus 5. Causes cataracts, sensorineural hearing loss, and heart defects - A. Rubella

Answer 171

E. Encourage early feeding and reassess later Transient hypoglycaemia at birth is common, especially in macrosomic babies, but usually does not require treatment. If the blood sugar is very low (below 1.6), the baby becomes symptomatic, or persists below 2.6 despite feeding, then I.V. dextrose is given. A central venous catheter should be used to give high concentrations of dextrose as if those concentrations are given through a peripheral cannula which tissues, it will cause tissue necrosis.

Answer 172

D. A neonate with inversion and plantar flexion of the foot This is describing talipes echinovarus, commonly known as 'clubfoot'. This is where the foot is inverted and plantar flexed at birth, and cannot be manipulated back to normal. Correction is with plaster casting and bracing (Ponsetti method). This is in contract to positional talipes which can be manipulated back to normal and usually will self-resolve, though some passive foot exercises may be recommended to parents. An example of positional talipes is talipes calcaneovalgus (described in C). All the other options are normal variations for the child's age. Whilst each may raise suspicion of an underlying disorder, if there are no other worrying signs then they are not inherently concerning and will self-resolve. As a rule most of these abnormalities should have resolved by 2-3 years of age.

Answer 173

D. Spastic diplegia Spastic diplegia affects the legs > arms and leads to the classic gait of cerebral palsy - knees flexed, hips adducted, tiptoe walking. Spastic diplegia is particularly associated with periventricular lesions, hence the relevance of the periventricular leukomalacia.

Answer 174

C. Varicella-Zoster virus Occurring in 1 in 4000 cases of VZV infection, cerebellitis is the most common neurological complication of VZV infection. This may occur with other viral infections but is particularly associated with VZV infection. This is not herpes simplex or enteroviruses because those would likely also cause the symptoms of encephalitis and meningitis respectively.

Answer 175

A. 1.000 The more dilute the urine is, the lower the specific gravity of urine will be. Though it seems niche, this is an investigation which is sometimes used, and has been examined in the past. The normal range is variable depending on who you ask, but is generally around 1.005 - 1.030.

Answer 176

B. Mongolian blue spot A Mongolian blue spot is an area of macular blue or black discolouration usually along the spine, particularly at the base or on the buttocks. They are very common, usually seen in children of African or Asian origin, are harmless, and will fade over a couple of years. It is important that they are documented at birth to distinguish them from bruising that may occur as a result of a coagulopathy or non-accidental injury.

Answer 177

E. Give a 20ml/kg bolus of I.V. 0.9% saline over 15 minutes This child is presenting in shock, and so needs aggressive resuscitation with intravenous fluids. While it is true that giving too much fluid in DKA is dangerous because of the risk of cerebral oedema, the need to restore circulation outweighs the risk. If the child is not shocked, they receive 10ml/kg over 60 minutes. The 10ml/kg bolus is then subtracted from the deficit in calculations of maintenance fluids, but a 20ml/kg bolus shouldn't be. DKA in children guidelines: https://www.bsped.org.uk/media/1745/bsped-dka-guidelines-no-dka-link.pdf

Answer 178

A. Corynebacterium diptheriae This is diptheria - a disease that has been practically eliminated in the UK but can still be found in sub-Saharan Africa and southern Asia. It is a differential of stridor and classically causes the appearance of a grey membrane at the back of the throat.

Answer 179

Give an initial bolus of 20ml/kg 0.9% saline over 15 minutes because he is shocked Then give saline at a rate of 115ml/hour over 48 hours Add 40mmol/l KCL to both Mild DKA = 5% bodyweight loss Moderate DKA = 7% bodyweight loss Severe DKA = 10% bodyweight loss Fluids = Maintenance + deficit ``` Maintenance: 100 x 10 = 1000ml 50 x 10 = 500ml 20 x 10 = 200ml Maintenance fluids = 1700ml over 24 hours 1700ml/24 = 70.83ml/hour ``` Deficit: 20ml/kg boluses for shocked patients are not counted 7% of 30kg is 2.1kg 1l of water = 1kg, so 2.1kg = 2100ml of water The deficit is replaced over 48 hours 2100/48 = 43.75ml/hour 70.83 + 43.75 = 114.58ml/hour for 48 hours

Answer 180

Because Bronchiolitis occurs almost exclusively in children under 1 year of age. Children have no beta receptors in their airways for the first 6 months of life, and few receptors before the age of 1, hence beta agonists will not work.

Answer 181

E. ABO incompatibility ABO incompatibility is caused by IgG antibodies produced against fetal blood cells. These are usually made by an O type mother against A type blood cells, and can cross the placenta and cause haemolysis. This is usually less severe than in Rhesus disease. 'D' and 'E' are the best answers as both would cause jaundice in an otherwise well baby (unless they progress to be severe). The distinguishing factor is simply that ABO incompatibility is more common because of the success of Anti-D prophylaxis in pregnancy. Jaundice in the first day of life is always pathological. Neither sickle cell nor thalassaemia could cause this as they affect beta haemoglobin chains which are not present in fetal haemoglobin, and therefore wouldn't manifest for several months. Congenital infection does cause prolonged neonatal jaundice but the baby is otherwise well and normal, which makes it less likely.

Answer 182

E. Offer an enuresis alarm and reassess at 4 weeks The management of nocturnal enuresis is as follows: 1st: give advice on fluid intake, toileting regularly, and reward schemes (e.g. for drinking the recommended fluid amount or toileting before bedtime). 2nd: Offer an enuresis alarm (unless this is unacceptable to parents or child, parents are struggling emotionally/ blaming the child) 3rd: Offer Desmopressin 4th: Consider other drugs

Answer 183

E. Temporal lobe focal seizure Focal seizures are so named because they are caused by abnormal activity in a specific brain region, rather than generalised abnormal activity. Focal seizures of each lobe have classic characteristics: Temporal: Features aura including strange tastes or smells before the seizure. Automatisms (lip smacking, plucking at clothes, aimless walking) may be seen. Consciousness may be impaired, and a feeling of deja vu has been described. Occpital: Features hallucinations or visual deficits Frontal: May cause proximally moving clonic movements (Jacksonian march), or tonic seizures of one or both upper limbs Parietal: Features contralateral altered sensation or distorted body image

Answer 184

A. A group parent training program Conduct disorder is characterised by antisocial behaviour that has a negative impact on the child's functioning, and may even lead to involvement with the police. The management of this condition is difficult, not only because the child will be inherently difficult to deal with, but because it often occurs on a background of an unstable or unhealthy home life which makes parental cooperation difficult to ensure. Treatment for a conduct disorder depends on the child's age: 3-11: group or individual parent training programmes 9-14: group social and cognitive problem solving programmes 11-17: multimodal intervention e.g. multisystemic therapy

Answer 185

D. Erythema toxicum Erythema toxicum is a common rash affecting babies at the 2nd-3rd day of life. It is completely benign and self-resolves.

Answer 186

C. Reassure him they do not require treatment This is a history of Molluscum contagiosum - a common viral skin infection in children. It does not usually require treatment and will self-resolve, though this will take 6-18 months. Treatment may be indicated if: the child is older and the spots are really bothering them, if the lesions do not self-resolve after a while, if the child is immunocompromised, or if the lesions are near the eye.

Answer 187

D. Secure the airway, call for help, give high flow oxygen, check blood glucose, obtain I.V. access, and give a benzodiazepine at 5 minutes if still seizing It is important to remember that although this history is suggestive of a febrile seizure, it is managed exactly the same way as any other generalised seizure. The first step does not involve giving treatment, it centres around making sure the child is safe and getting the necessary help in case treatment is needed. Most febrile seizures will self-terminate before 5 minutes, but if not then treatment can be used to terminate the seizure. The first treatment may be buccal Midazolam, rectal Diazepam, or I.V. Lorazepam, but the second bolus should be I.V. Lorazepam. NICE algorithm for treating a seizure in children: https://www.nice.org.uk/guidance/cg137/chapter/Appendix-F-Protocols-for-treating-convulsive-status-epilepticus-in-adults-and-children-adults-published-in-2004-and-children-published-in-2011

Answer 188

Impaired social interaction Delayed or abnormal speech and language development Imposition of routine and ritualistic behaviour

Answer 189

E. Begin chest compressions at a rate of 100-120bpm, with a ratio of compressions: breaths of 15:2

Answer 190

E. Reduction of dietary fibre intake Adequate fibre intake is essential, and the parent should be educated on which foods are high in fibre and should be included in the child's diet. It is important to remember that you should not use dietary and behavioural intervention alone as the first-line treatment for idiopathic/ functional constipation. The child should also be given maintenance therapy with Movicol, and a macrogol regime for disimpaction first if indicated (e.g. by overflow soiling or a palpable mass).

Answer 191

D. Rolandic epilepsy This is a benign form of epilepsy that usually remits in adolescence and is not generally associated with underlying disorders. It is one of the most common forms of childhood epilepsy.

Answer 192

B. Bruising Bruising signififes an increased breakdown of RBCs, which causes accumulation of unconjugated bilirubin as the immature liver is not efficient at metabolising and excreting it. Though the failure to engage with maternity services could mean there was an undetected issue (e.g. Rh incompatibility), there is no other evidence this is the cause, whereas there is evidence of bruising. Biliary atresia won't usually present until the 2nd-3rd week of life - this is because the bile ducts are open at birth but are rapidly obliterated by an inflammatory fibrosing reaction. Biliary atresia would also cause a conjugated hyperbilirubinaemia. UTI, Rh incompatibility, and inborn error of metabolism would generally feature other signs and symptoms including jaundice. NB: Modified from 'Single Best Answers and EMQs in Clinical Pathology'

Answer 193

A. Long-term prognosis is excellent after surgery Biliary atresia results from an inflammatory and fibrosing process that occludes the bile ducts within 2-3 weeks of birth, causing elevated levels of conjugated bilirubin. While this issue can be solved with a Kasai hepatoportoenterostomy, the underlying process continues with most children going on to develop complications such as cholangitis, cirrhosis, and portal hypertension.

Answer 194

1. Most common in teenage girls, causes knee pain, classically worse on climbing stairs - B. Chondromalacia patellae 2. Most common cause of knee pain in growing adolescents - A. Osgood-Schlatter disease 3. Associated with endocrine abnormalities - D. Slipped upper femoral epiphysis 4. Common in 5-10 year olds, initially difficult to detect on x-ray, MRI may be needed - C. Perthe's disease

Answer 195

1. Initial fluid replacement for a child in DKA - C. 0.9% saline 2. Maintenance fluid for a child - B. 5% dextrose + 0.9% saline 3. Maintenance fluid for a neonate - A. 10% dextrose

Answer 196

C. Supportive measures This is the only standard treatment for bronchiolitis, none of the other measures mentioned are effective. The use of Ribavirin in some cases is controversial, and would only be done in very ill children. Pavilizumab is a preventative measure given to children identified as being at risk during the winter months.

Answer 197

Poor feeding (50-75% of normal) Respiratory distress/ apnoea (grunting, recessions, resp rate >60) Persistently low sats (<92% on room air) or cyanosed Generally unwell Clinically dehydrated

Answer 198

Any 3 of: High fever Generally unwell/ toxic appearance Resp rate >60 bpm or tachycardia Respiratory distress at rest (grunting, recessions, stridor) Agitation Lethargy Underlying disease e.g. immunodeficiency, neuromuscular disease, chronic lung disease Age under 3 months Any other features of moderate or worse disease