Paediatrics Flashcards

Question

A 10-year-old boy is brought to the GP with tall stature. He is taller than his peers at school. His arm span is greater than his height, he has long, thin fingers, scoliosis and pectus excavatum. He is also concerned that he gets short of breath at school during PE lessons. You refer him for an echocardiogram and chest x-ray. You make a clinical diagnosis of Marfan’s syndrome. What is the inheritance of Marfan’s syndrome? A. X-linked recessive B. Autosomal recessive C. Sporadic D. X-linked dominant E. Autosomal dominant

Answer 1

E. Autosomal dominant Marfan's is an autosomal dominant connective tissue disorder affecting the fibrillin gene. A. X-linked recessive - Duchenne's and Becker's muscular dystrophy B. Autosomal recessive - Homocysteinuria (similar phenotype but with thromboembolic tendancy) C. Sporadic - Klinefelter's D. X-linked dominant - Hypophosphataemic rickets

Answer 2

E. Newborn blood spot screening PKU is a autosomal recessive metbolic condition leading to a defect in the phenylalanie hydroxylase enzyme. This enzyme converts phenylalanie to tyrosine, unrecognised PKU can lead to seizures, musty urine and eventually microcephaly and learning difficulties. PKU is one of the six inherited metabolic disorders already on the UK newborn screening test (E). Options (A), (C) and (D) would all be useful for monitoring the disease, but are not diagnostic. (B) is not used for PKU

Answer 3

C. Malignant tumour His background of albinism means that he has problems synthesising melanin, this makes him more at risk of solar induced genetic damage. Malignancy shouldalways be considered in these patients, especially as he has lived at an equitorial latitude for 17 years. The description of a lump that is increasing in size, with irregular edges, with multiple colours and is solid, are all alarming for malignancy (C). This certainly does not sound like a benign naevus (A)! There is nothing in this history that suggests trauma (B) or infection (D). A wart (E) due to HPV infection would be possible, but the location on the face goes against this, and makes malignancy more likely.

Answer 4

B. Duchenne’s muscular dystrophy Of these conditions (B) s the most common, with Becker's (E) being a a similar but more mild presentation. Both are X-linked conditions. Myotonic Dystrophy (A) is autosomal dominant, so it would also be present in the mother. Down's (C) has a variety of syndromic features; Facies (low set ears, epicanthic folds, protruding tounge, flattened nasal bridge), single palmar crease, sandal gap toes. Myasthenia Gravis (D) can present with delayed walking, but the key finding is fatigability, which isn't demonstrated here.

Answer 5

C. IV dextrose and IV hydrocortisone Congenital adrenal hyperplasia is a deficiency in the enzymes which convert testosterone to cortisol. This accumulates and leads to the virilisation in female infants, and the abnormal male genitalia. This lack of cortisol leads to a salt-losing crisis, as seen here, with hypoglaceima and vomiting. Replacement of the steroids and the correction of the glucose (C) is the first line management here. Either option in isolation, (A) or (B), is not enough. Correction of the Hyponatremia needs to be gradual (over 2 days) in order to avoid central pontine demyelination, (E) is far too dangerous. Normal saline (D) will not really do anything for this child.

Answer 6

E. Noonan’s syndrome Nonan's (E) has a similar phenotype to Turner's (C) but, unlike turners, affects males as well as females. This case does not present the typical features of the other syndromes given as answer options. (A) Happy demenour and developmental delay (B) 'Elfin' facial appearance, highly sociable but with developmental delay in other areas, aortic stenosis. (D) Poor feeding and weight gain in infancy, hyperphagia and obesity in later life.

Answer 7

C. Biliary atresia Jaundice is an important presenting complaint in neonates. The key to determining the cause is the timing, duration and onset of the jaundice. Jaundice in the first 24hrs may be due to immune (ABO, or Rhesus factors), or inherited non-immune conditions (Sphereocytosis or G6PD deficiency). The jaundice in these cases is always unconjugated, so option (B) is wrong. Breast milk jaundice (A) is physiological and appears between 24hrs and 2 weeks, but shouldn't persist. Hypothyroidism (E) is important to identify, due to the long term learning difficulties that can arise. It doesn;t present with pale stools, so is unlikely here, and ti should have been detected on the blood spot test. Neonatal hepatitis (D) can be secondary to congenital infections, or metabolic diseases such as alpa1 anti-trypsin, or cystic fibrosis. However, the history of dark urine and pale stools s strongly suggestive of biliary atresia (C). This needs to be investigated, as there is a risk of developing cirrhosis.

Answer 8

C. Group B Streptococcus Group B streptococcus (C), GBS, can colonise the reproductive tract, and is a common congenital infection. Symptoms include; sepsis, pneumonia, meningitis, UTI, and septic arthritis. All the others can cause sepsis but the three most common congenital infections are; GBS, E.Coli, and Listeria monocytogenes.

Answer 9

C. Surfactant deficiency The respiratory distress syndrome here is due to immature type II pneumocytes producing insufficient surfactant (C). This baby is vulnerable to this because of it's prematurity. The description of 'ground glass' pattern is charecteristic of respiratory distress syndrome of the other options presented here, (A) is present in meconium aspiration syndrome due to irritation of teh lungs by the compounds in the meconium. (B) is due to a develpmental issue with the lung, secondary to renal issues or diaphragmatic hernia. (D) isn't an issue as the lungs are structualy immature, but functional Any infection (E) would present as increase respiratory effort, but would have focal signs on chest radiograph.

Answer 10

E. NBM, IV fluids, abdominal X-ray and surgical review NEC is a complex disease with a multitude of risk factors, we see here some of the risks; formula feeding, prematurity and (possibly) ischaemia at birth. This child is showing signs of bowel pathology and so the (already high) suspiscion of NEC is supported. Active management of this condition is called for, option (A) is not the correct management here. As with all surgial pathology, the patient should be made NBM and given IV fluids. Option (D) doesn't account for the need of NBM here. Options (B) and (C) completely bypass the step of acually imaging the patient and getting a surgical opinion prior to undergoing surgery. Without first gaining a surgical review, I'm not sure who will be carring out this surgery... The F1?

Answer 11

D. Karyotype Down's syndrome is due to trisomy 21 so a karyotype test (D) is all that is needed to identify the additional chromosome. Screening for Down's during pregnancy uses the combined test, utilising serum markers and an ultrasound scan. The markers used are as in (A). It is a trisomy anomolity so there is no gene mutation to find (B). That would be used for a condition such as cystic fibrosis. Although syndromic conditions can be identified on the clinical picture (C) a true diagnosis needs something more objective! Fluorescence in situ hybridisation (E) is used to identify micro deletions, as in Digeorge's or Cri du Chat.

Answer 12

B. Tracheoesophageal fistula All of the answers offered here can result in a coughing baby , but in this case there are a constellation of symptoms consistent with one overiding syndrome; VACTERAL. This stands for Vertebral, anal imperforation, cardiac, tracheo-(o)esophageal fistula, renal and limb abnormalities. With this in mind (B) is the correct answer here. Cleft palate (A) is often seen in DiGeorge's or Down's syndrome. Choanl atresia (C) is associated with CHARGE (coloboma, heart defects, atresia choanae,retardation of growth and development, genitourinary abnormalities and ear anomolies) syndrome. An incoordinated swallow (D) would be expected if there was an underlying neurological or neuromuscular pathology. There is nothing in this history to suggest that. The child is afebrile so a pneumonia (E) is unlikely to be the cause of thier problems.

Answer 13

A. Transposition of the great vessels This baby is presenting with a cyanotic defect, of the answers here only (A) and Tetralogy of Fallot (C) are cyanotic heart conditions. The Tetralogy of Fallot includes; right ventricular outflow obstruction, Ventral-septal defect, overiding aorta and right ventricular hypertrophy The differentiator here is that Tetralogy presents more commonly around 6 months of age, not immediately post birth. Transposition of the great vessels (A), where the aorta is connected to the right ventricle and the pulmonary artery is connected to teh left ventricle, is more likely to present at birth. The only thing keeping this child alive at this point is a left-right shunt, such as a VSD, ASD, or his patent ductus arteriosus (which will be closing). He needs a prostaglandin infusion to keep it patent and urgent surgical correction. All the other options here, (B) (D) and (E), would not cause cyanotic disease.

Answer 14

B. Boehringer Mannheim (BM) glucose This is an infant of a diabetic mother, she is displaying signs that the poor control in pregnancy has had an adverse effect, she is macrosomic at 5kg. Poor control of glucose at the time of conception predisposes the fetus to congenital malformations, and macrosomia and hypoglycaemia post-natally. This baby has been exposed to a hyperglycaemic enviroment during pregnancy and this has led to an increased baseline insulin level in the child. With the birth this has now suddenly changed and that high insulin is innappropriate, she has become profoundly hypoglycaemic and has started seizing. A BM test (B) is needed to confirm. Infection can lead to seizures and (C) would be your test, electrolyte disturbances (A, D, E) would also cause seizures, but all of these are less likely than hypoglycaemia given the history of this case. In the event of a normal blood sugar in the infant then, of course, you would proceed to these tests.

Answer 15

A. Dehydration Gastroschisis is a condition where the bowel herniates throught eh anterior abdominal wall during fetal development. The bowel is not covered in a membrane, as in the similar condion of exomphalos, and so this can lead to fluid, electrolyte and heat losses. Gastroschisis is rarely associated with other conditions. the baby will require fluid replacement and the strict monitoring of fluid balance, they will also need to be in a heated incubator and have regular electrolyte monitoring. Dehydration (A) is a major concern in these patients, there is no increased risk of overload (D). As discussed above hypothermia is a risk, not hyperthermia (B). Loss of electrolytes makes hyponatraemia likely, but not hypernataemia (E). Finally NEC (C) is no more common in this group than others.

Answer 16

E. Placental insufficiency Placental insufficiency (E) classically presents as asymetrical IUGR, we see this here with the disparity between the centiles of the infants head and weight. common causes of placental insufficiency include vascular compromise in the placenta on a background of maternal diabetes or pre-eclampsia. This is because the placenta is able to supply the fetus' needs up to a point, and in the later stages of the pregnancy can no longer sufficiently perfuse the fetus. This accounts for the fact that the head circumfirence is less affected by the growth restriction. all of the other conditions here would be expected to result in symetrical growth restriction as the situation would arise in early pregnancy and endure. It is possible to see this picture of asymetric growth restriction due to smoking (B), but it is not the most likely case.

Answer 17

E. Pyloric stenosis This is a classic presentation of pyloric stenosis (E). It presents at 1 month with projectile vomiting, more common in males. The cause is hypertrophy of the pyloric muscle at the gastric outflow, this leads to delayed emptying and increasing vomiting. The description of being still hungry is also typical of the condition. Volvulus (B) and intussesception (D) would both present as a surgical abdomen, with tenderness, distention and generally being an irritable baby. NEC (C) is generally a disease of the premature infant, with formula feeding another risk (the case her specifies breastfed). Other signs of NEC are that theh infant will have bile stained gastric aspirates and abdominal distention. It generally presents in term infants who have had a history of birth asphyxia or severe growth restriction. Gastroenteritiis (A) can occur in young infants, the risk here is in parents who don't sterilise their bottles. The presentation is a shorter history of vomiting and diarrhoea.

Answer 18

C. Coeliac disease The history of autoimmunity in the mother gives you a cule here. The problems here have only started after weaning so that also gives you a clue that this is dietary induced. The answer here is Coelic (C), it is an anutoimmune condition resulting in sensitiity to dietary gluten, leading to atrophy of the small intestinal villi. Children present with abdominal bloating, diarrhoea, failure to thrive and wasting (classically affecting the gluteal muscles). Inflammatory bowel disease (A) and (B) are rare in younger children, they tend to start in teenagers. IBS (D) is rare in a very young child as it tends to have a degree of stress involved in it's onset. It is a diagnosis of exclusion, and the weight loss is less likely in IBS. Giardiasis (E) would present like this, but it would be unlikely without a travel history to an endemic area. This is made more unlikely by the fact that noone else in the family is unwell.

Answer 19

C. Wilson’s disease This child is showing signs of chronic liver failure, he has clubbing, palmar erythema and non-significant spider naevi (5+ is significant). The slit lamp examination has demonstrated Kayser-Fleischer rings, these are copper deposits around the cornea, and are pathognomic for Wilson's disease (C). Wilson's is an autosomal recessive condition caused by a defect in the metabolism of coper, this leads to copper being deposited in the tssues and leads to liver failure with cirrhosis, neurological problems, as well as renal and cardiac problems. There is also an association with heamolytic anaemias due to cper being deposited in teh red cell membranes. . Abdominal Turberculosis (A) would not cause the rampant liver failure we see in this case. Cystic Fibrosis (B) would cause the clbbing we see here, but there is no information of pulmonary findings. Hep A (D) would not cause this chronic liver failure, the splenic enlargement also doesn't fit, and there is no jaundice here. Glandular fever (E), or Epstein Barr virus, would not show signs of chronic liver failure. The overiding factor here are the finding of the Kayser-Fleischer rings, these are only present in Wilson's Disease.

Answer 20

A. Encourage her to increase her fluid intake, dietary fibre and exercise This is a typical presentation of constipation, and the indentable mass in the L.Iliac fossa is impacted faeces. The abscence of, growth failure, delayed meconium passage, distended abdomen and vomiting, neuro signs or anal pathology, are all reassuring that this is not serious pathology. The correct first line management here is (A) as she is impacted at this stage and needs some help to soften the stool. Once this has been achieved we can look at behavioural changes (B) to prevent recurrence of this situation. If the lifestyle changes do not produce softer stols, then a non stimulant laxitive (D) may be needed to medicaly disimpact the bowel. Stimulant laxitives (E) on a background of impacted faeces are likelt to casue more abdominal pain, so should be avoided as there is also a risk of bowel perforation and dependance forming. Surgical disimpaction (C) would be the absolute last step after all conservative and medical options had failed. It would also be necessary to rule out all potential underlying causes of constipation first.

Answer 21

B. Right inguinal hernia the examination findings of a groin swelling and a tense abdomen give you an indication of the likely pathology here. The baby is also vomiting, but you hear bowel sounds, this tells you that there is a partial bowel obstruction. Putting the picture together we see that this must be an incarcerated Inguinal hernia (B). He need to be seen by the surgeons and this needs correcting before it becomes a strangulated hernia. Appendicitis (A) is common in the ages of 11-20, but very unlikely in an infant as the relative size of the appendix inlet compared to the rest of the bowel lumen doesn't predispose it to obstruction. Gastroenteritis (C) can occur in infants, usually if the parents are not sterilising the bottles and water for the feeds correctly. The history here is a bit more substantial, and the groin swelling goes against this. NEC (D) is usually seen in premature babies, or those who have suffered birth hypoxia or severe growth restriction. Abdominal distention and bile stained gastric aspirates are the hallmarks of NEC. If this was a more ambigious history and lacking in abdominal signs then you may well treat with IV antibiotics for a neonatal sepsis (E). Of note here; any inguinal hernia mandates a surgical review, *c.f.* umbilical hernias will self resolve without surgical intervention.

Answer 22

B. Take bloods to test for liver function, hepatitis, and urea and electrolytes; inform the Health Protection Agency and discharge home with follow-up to review results The most likely cause of this childs jaundice is hepititis A, it is important to know that Hep A is a notifiable disease. There are a lot of them and they can be found here: https://www.gov.uk/notifiable-diseases-and-causative-organisms-how-to-report Essentially they are all contagious and serious diseases, the helath professional has a statutory duty to notify the proper authority on suspicion of one of these diseases (you are not to wait for laboratory confirmation). Knowing this we can straight away exclude all of the answers except (B). Even without knowing that, the child has a palpable liver and is jaundiced, so investigation is needed, This excludes (A). She is drinking and remaining hydrated, so IV fluids are not needed (C). (E) doesn't actually perform a hepatitis screen (D) admits the patient, which is an infection risk, and doesn't inform the HPA.

Answer 23

A. Autoimmune hepatitis with varices It is important here to recognise that type I diabetics can also suffer from other autoimmune conditions. The most commonly occuring with diabetes are Grave's disease and Coeliac disease, these are screened for on a yealy basis. Autoimmune Hepatitis (A) is more comon to be found in females and typically presents between 10 and 30, as either a chronic liver failure or an acute hepatitis. The ANA will be positive in around 80% of cases and the Anti-smooth muscle will be positive in 70%. Ketoacidosis (B) is incorrect as we can see her pH is normal. The raised glucose is a stress responce. There is no history of diarrhoea, and there are normal amounts of white cells so this makes gastroenteritis (C) unlikely. You would probably still isolate her in a side room to be prudent. Although there is nothing to suggest pregnancy (D) in the history, it wis always wise to test any woman of childbearing age who has abdominal pathology. SLE (E) would have a positive ANA, but it would not have a positive anti-smooth muscle. There is nothing else in this history consistent with SLE.

Answer 24

E. NEC NEC (E) (necrotising enterocolitis) classically affects premature infants, or those with severe birth hypoxia or severe growth restriction. It has an onset in the neonatal period, not in an 18-month old child. A lower lobe pneumonia (A) may present with abdominal pain and fever, any respiratory tract infection in the young can present with vomiting. The infalamed airways cause a gag reflex, and the increased work of breathing increased the intra-abdominal pressure. Mesenteric adenitis (B) has this presentation, and is the likely pathology here. It is, however, a diagnosis of exclusion. it is caused by an inflammation of the mesenteric lymph nodes, it can be mistaken for appendicitis. Diabetes (C) is extremely rare, but not impossible, in a child this young. An illness could cause the condition to manifest for the first time with an episode of ketoacidosis. vomiting would be a typical presenting symptom. Pyelonephritis (D) is always one to rule out in a child with fever and vomiting.

Answer 25

B. Make NBM and start intravenous fluids while waiting for transfer to a paediatric surgical unit Although up to 75% of cases of intussuception can be corrected by insufflation, those that fail carry a risk of perforation. It is for this reasont that it should not be attempted without suitably equiped paediatric surgical facilities available. We see here that you have been specifically told that you are at a district general hospital, so the author wants you to recognise that you will not have the facilities for surgery on a 13-month old infant. As such the only option here is to transfer to a more specialised hospital (B), taking care to manage the patient with NBM and fluids.

Answer 26

E. Abdominal migraine Often the first symptom of a migraine in children is with abdominal pain. This would be higher on the list of differentials if there was a family history of migraines. If there was PR bleeding then it stands to reason that a diagnosis of migraine (E) becomes dificult to support, and bowel pathology should be sought. The most common cause of PR bleeding in children is constipation with an anal fissure (A). You would expect bright red streaks of blood on the tissue or the surface of the stool. Interssusception (B) presents with 'redcurrant jely' stool as an uncommon late stage symptom. It is due to the distal segment of bowel becoming necrotic and this is a mix of blood and mucus. There is a severe risk of perforation during insufflation at this late stage. It really should have been picked up before this. A Meckel's diverticulum (C) is fond in 2% of the population. It is an ileal remnant of the embryological yolk stalk, which can lead to ulceration and perforation, which then leads to severe dark red rectal haemorrhage. A bacterial gastroenteritis (D) caused by Salmonella or Shigella may produce blood and /or pus mixed with the stool.

Answer 27

A. Reassure the mother, explaining this is toddler’s diarrhoea and he will grow out of it Todler's diarrhoea is a common cause of loose stool in children of pre-school age, it normally requires no treatment (A). The symptoms are linked to immature development of intestinal motility, and will usually resolve around 5 years of age. There is a case for intervention if the symptoms are socially disruptive, if the can't start school for example, in that case loperamide (B) would be indicated. He is only just started to potty train, so this needs time to be implemented. He is growing well and his weight and height are in line with each other and are in normal ranges, There is also no mention of any wasting, so coeliac disease (C) is unlikely. Of note, the first investigation for celiac is a blood test for anti-endomesial antibodies, not an invasive test like an endoscopy. There is no sign of growth failure, bloody stools or the passage of mucus, making an inflammatory bowel disease (D) unlikely. The age of presentation for IBD is more commonly the late teens or early 20's. Although diarrhoea is a common symptom of hyperthyroid (E), it is a conditon more common in female teenagers or in the neonatal period in infants of Grave's disease mothers. He has no other features consistent with hyperthyroidism; restlessness, increased appetite, tachycardia, or sweating.

Answer 28

B. Crohn’s disease The salient points here that give the diagnosis of Crohn's disease (B) are: **Mouth ucers** -Crohn's is charecterised by skip lesions that can affect the entire digestive tract, from vermillion border to the anus. Distinguishes this case from Ulcerative Colitis (A) **Abdominal pain and distention -** Gives an indication that this is serious pathology. **Frequent diarrhoea with mucus** - This is a halmark of inflamatory bowel disease, the prescence of mucus goes against Coeliac (C) and Gastroenteritis (D). **Falling weight crossing the curves** - again, gives an indication of serious pathology, and it tells you that this is a chronic illness. It is not Gastroenteritis (D). In sumary the age of presentation (10 years old) excludes NEC (E), a disease of the newborn, and you would expect Coeliac to be a serious problem soon after weaning. That just leaves the inflamatory bowel disease, often the two are hard to distinguish in a clinical setting. In this case the mouth ulcers are your only discriminator, UC (A) is a disease of the rectum with a proximal spread, whereas Crohn's is a multi site condition that is also more likely in younger patients.

Answer 29

A. Ulcerative colitis Ulcerative colitis (A) can affect any age, but it is significantly more prevalent in the teenage years and early 20's. It is a reccurent and chronic inflammatory disease of the rectum, which spreads proximally. It 'never' crosses the illieo-caecal valve It has extra-intestinal symptoms, some of which can be seen in this case; sero-negative arthritis, spondylitis, pyoderma gangrenosum, erythema nodusum. Crohn's (C) is difficult to distiguish, but the history of back and joint pain is your clue here that it is UC. Coeliac (C) would usually present at a younger age, it is charecterised by malnutrition, wasting and abdominal bloating. In the rare cases of coeliac that there is blood in the stool, it would be digested blood, not frank. Gastroenteritis (D) is unlikely as this is a very chronic picture of disease, and the joint/spine involment doesn't fit. NEC (E) is an illness of the newborn, presenting with abdominal distention and bile stained aspirates.

Answer 30

C. Choanal atresia Choanal atresia (C), despite the name, has nothing to do with the anus. It is a congenital blockage of the nasal airway. This leaves the infant in respiratory distress as they are obligate nose breathers. Hirschprung's (A) affects around 1 in 4000 and is the abscence of ganglion cells in the mesenteric and submucosal plexi in the rectum or colon. It leads to a norrowed section of bowel where it is denervated. The lack of movement in this section of bowel causes the delay in meconium passage. It is managed by a surgical resection of the denervated bowel section. Cystic Fibrosis (B) results in inspissated (thickened) meconium which then has difficulty being passed. It will result in meconium ileus in around 20% of cases of cystic fibrosis. An imporforate anus (D) is rarer than Hischprung's and will need surgical intervention. Meconium plug syndrome (E) is the commonest cause of delayed meconium passage. It results from a transient immaturity of the gut, it is managed with anal stimulation using a glycerine chip.

Answer 31

A. Cow’s milk protein intolerance The onset of eczema since ending breastfeeding, the nappy rash, and the anal inflammation, all point towards a Cow's milk protein intolerance (A). This is an allergic reaction to the protiens within the cow's milk, and is distict from lactose intolerance (B). This intolerance to cow's milk protein usually presents with exposure in infancy, although if the intolerance is particularly severe the small amount of protein from a dairy consuming mother that is found in breastmilk is enough to cause problems. The infant presents with worsening skin inflammation (eczema), Diarrhoea (potentially bloody), vomiting, failure to thrive, colic and irritability. Lactose intolerance (B) is a deficiency in acose dehydrogenase, the build up of lactose in the gut creats an osmotic draw, leading to diarrhoea and dehydration. The intolerance is usually acquired following an episode of acute gastritis, but it can be congenital. The non-GI symptoms here are not consistent. The history is too long for gastroenteritis (C) and the other symptoms are not consistent. Hyper IgE syndrome (D), or Job's syndrome, is an autosomal dominant immunodeficiency (you would think a parent having the condition would be mentioned) which leads to skin boils and severe eczema, but no gastrointestinal manefestations. Wiskott-Aldrich syndrome (E) is also associated with eczema, as well as thrombocytopenia, and lymphopenia, but no gastrointestinal symptoms. It is an x-linked recessive disorder.

Answer 32

A. Mycobacterium tuberculosis This is a very slow and indolent history of meningitis, it's cetainly not consistent with the main bacterial causes of meningitis in the UK; S.pneumoniae (C) and N.Meningitidis (E). Cryptococcus (D) is seen more in the immunosuppressed patients, such as those with untreated HIV infection. HSV (B) results in encephalitis which is clinically difficult to distinguish from meningitis so should be empirically treated until laboratory confirmation. In this case we are told that this is meningitis, not encephalitis.

Answer 33

B. IV fluids and IV quinine This child has a moderate parasitaemia at 2%, a level above 5% would be considered severe. He needs IV antimalarial treatment and fluids is prudent here (B). The splenomegaly here is secondary to acute haemolysis, unles there are clinical signs of a splenic rupture he shouldn't undergo a splenectomy (C) or (D). When this child is improving he could be switched ot oral anti-malarials (E)

Answer 34

D. Kawasaki’s disease Kawasaki's (D) is an inflammatory disease of unknown origin, this girl has all of the features. All of the other conditions do share some symptoms with Kawasaki's though. The serious complication that can arise is that there can be coronary artery aneurysms. The distinct feature in this case in the bilateral non-purulent conjunctivitis and the almost pathognomic 'very misearble child'. Of the other options here; Staph scalded skin (A) causes fever with peeling skin. Toxic shock (B) presents as a red macular rash, fever and normally diarrhoea. There would be expected to be some route of intoxication with bacterial toxins (prolonged tampon use being the usual route), as this girl is 3 she lacks the risk factors. Scarlet fever (C) has a 'sandpaper' rash and erythematous mucous membranes. Measles (E) is now extremely rare, but thanks to anti-vaccinators is making a comeback, as such it should be kept in mind. It causes a febrile child with an erythemotous macular rash.

Answer 35

E. Meningitis All of the answers here can be complications of orbital celulitis, the alarming feature here is the reduced level of conscious and the vomiting, both of which point to neurological pathology. If there was focal neurology then it would make an abcess (B) more likely, this level of global neurological impairment is more charecteristic of meningitis (E). The route of infection here is likely to be the cellulitis spreading to the CSF surrounding the optic nerve. The other possibility here is that septicaemia (C) has lead to shock and this hypoperfusion is causing the symptoms we see, but there isn't anything to go on here to sugest that specifically. (A), (B) and (D) all need investigating with a CT head and an opthalmology review.

Answer 36

A. Lymphoma Here we have a girl with a prolonged history of fever, this raises the possibility of a non-infectious cause. We have been told that there are no TB contacts and the CXR shows a mediastinal mass, which is not typical of TB (C) or a pneumonia (B). A primary Lung tumour (D) is very rare in children, so this is unlikely. With the lymphadenopathy lymphoma and Leukaemia (E) are potenitals, a lymph node biopsy and a blood film and bone marrow aspirate is neded. Given that she has a mediastinal mass causing a dry cough and the 'B' symptoms Lymphoma is more likely.

Answer 37

C. IV fluid bolus and IV ceftriaxone This girl has subtle, but distinctive signs of meningococcal sepsis. The prescence of petechial spots, with a fever, and clinical signs of shock means that antibiotics must be comenced straight away (B and C). The tachycardia, and slow capillary refil time indicate early shock, so a fluid bolus is needed (C). Any bruising should make you think of non accidental injury, but in this case there is a rather obvious pathology at work so (A) is incorrect. She needs urgent treatment so (D) is incorrect, and (E) is just plain negligent.

Answer 38

B. Septic arthritis This child is presenting with fever and a limp, he also has a reduced range of movement and signs of acute inflammation over the hip joint. All of this makes a septic arthritis (B) affecting the right hip the most likely diagnosis here. Perthe's disease (A) usually affect older children, those older than 5, it results from an avascular necrosis of the femoral head. The pathology of which is unclear. You wouldn't expect the child to be febrile with localised inflammation. Without a reported history of trauma we can exclude accidental injury (C), non-accidental injury (E) must always remain in mind. This is particularly true given the social background of deprivation and depression, but it isn't the most likely diagnosis here. Juvenile idiopathic arthritis (D) is diagnised after 6 weeks of joint pain and swelling that is unexplained after other diagnoses have been excluded.

Answer 39

E. Congenital cardiac defects All of the features here are possible sequale of congenital CMV infection, apart from congenital cardiac defects (E), which are seen in other conditions such as congenital rubella. Mothers are screened for CMV during pregnancy as standard, along with CMV they are also screened for Hep B, rubella, Syphilis, and HIV. This is different to the newborn screening test, the TORCH screening which looks for; toxoplasmosis, rubella, cytomegalovirus, herpes simplex, and HIV

Answer 40

D. Salmonella typhi Of the organisms on this list, Rotavirus (A) is by far the most common cause of gastroenteritis in the world, it accounts for over 50% of cases. In this case, however, there are some unusual features which would make you suspect another cause, the distictive rose spot and the blood in the stols.

Answer 41

B. He has had a focal seizure Febrile seizures are common in children aged 6 months to 6 years, this makes (A) an incorrect answer. It is believed that they occur due a rapid rise in body temprature at the start of a febrile illness. This is particularly the case for viral illnesses., so (C) is spurious. There is no agreed range of tempratures that put children at risk for a febrile seizure, so (E) is oncorrect. Any seizure lasting less than 5 minutes that is self resolving is classified as a simle seizure, so (D) is not correct. The answer to this question is that the focal nature (B) of the seizure excludes the possibility of this being a febrile seizure. Focal neurology points to focal pathology, this child needs a head CT and antibiotic cover for a potential bacterial meningitis or abcess, as well as antivirals for herpes simplex virus (potentially this is caused by meningoencephalitis).

Answer 42

D. Give IM adrenaline 0.01 mg/kg of 1:1000 It's vital here that you recognise this as an anyphlactic reaction, there are cardiac and respiratory involvement with signs of systemic shock (tachycardic and hypotensive). A fluid bolus (B) is needed here due to the distributive shock, but it doesn't solve the root cause of the shock, so is not the most important step. In order to stop the capilliary leakage and the swelling you need to give adrenaline, in anaphylaxis the adrenaline needs to be given IM not IV (C), IV adrenaline is used in the cardiac arrest protocol. A paediatric anaesthetist (E) will be needed to assess the airway, and that should be called for but not before giving the adrenaline as it will slow further airway compromise. It is important to be aware that there is a biphasic reaction, and the child may have another reaction in 6-12 hours despite no further contact with the allergen, long after the adrenaline has worn off. This is why steroid and antihistamine cover is the normal procedure. (A) is a consideration in bacterial induced airway obstruction, seen in epiglotitis or bacterial tracheitis.

Answer 43

E. Erythema multiforme A target rash is described as Erythema multiforme (E), it has many causes, a drug reaction (as in this case penicillin), infection (atypical pneumonia) or it can be idiopathic. Erythema Migrans (A) - is the characteristic rash of lyme disease Erythema Toxicum (B) - is a benign rash that is seen in newborns (first 3 weeks of life) that is usually a pustular or vesicular rash surrounded with an erythemotous area. Erythema Marginatum (C) - is seen in rheumatic fever along with carditis, arthralgia, subcutaneous nodules and the pathognomic Sydenham's chorea. Erythema Nodusum (D) - can be seen as a drug reaction (particularly sulphonamides), infections such as strep species, autoimmune, and malignancy. The most famous cause of this is, however, inflammatory bowel disease.

Answer 44

B. Low B cells, low T cells, low immunoglobulins Severe combined immunodeficiency (SCID) is a group of disorders, as the name sugessts, that result in both T and B-cell dysfunction. Knowing this we see that only (B) can be correct here. (A) is a normal blood result (C) appears to be a form of hyper IgM syndrome, this is caused by a defect in the CD40 ligand and causes defective class switching as well as problems with T-cell function and this leads to reccurent infections. (D) suggests Brunton's agammaglobulinaemia, where the lack of B cells lead to low immunoglbins and a predispostion to respiratiory and CNS infections. (E) may be due to underdevelopment or abscence of the thymus, as this only affects the T-cells. This can be linked to DiGeorge's syndrome

Answer 45

C. Cow’s milk protein intolerance The natural history of this baby's issues tells you that there is an issue with the formula milk. The prescence of eczema on his cheeks tells you that this is an atopic presentation, and the bloody diarrhoea points at a Cow's milk protein intolerance (C) as opossed to Lactose intolerance (A). Cow's milk protein intlerance presents with diarrhoa on the introduction to cow's milk formula or breast milk if the allergy is severe and the mother is eating dairy. Congenital lactose intolerance is very rare as it would involve complete abscence of lactase at the intestinal brush border, it usually occurs secondary to infection or after 2 years of age when levels start to fall naturally in most people. Fructose intolerance (D) is very rare, it presents with hypoglycaemia, failure to thrive and vomiting. There will also be hepatomegaly, jaundice, renal complications and severe metabolic acidosis. Gastroenteritis (B0 should always be a consideration, but without signs of fever or any vomiting, it is unlikely. Galactosaemia (E) is a deficiency in glactose-1-phosphate uridyl transferase deficiency. It can present as metabolic aberations, sepsis, vomiting and collapse.

Answer 46

B. FISH (fluorescence in situ hybridization) DiGeorge's syndrome is a microdeletion at chromosome 22q11.2. We see in the description here some of the clasical signs, there are also aortic arch abnormalities, thymic hypoplasia, and a syndromic facial appearence. In order to best identify microdeletons, FISH (B) is the technique of choice. Abnormalities with chromosome numbers or translocations (such as Down's or Turner's syndromes) are best seen with karyotype studies (A). ELISA (C) is used to look for the prescence of specific proteins. Such as antibody screening to check for an infection or immunity. Genetic review (D) may be helpful for future family planning, but doesn't help with diagnosis of this child. Identifying a specific mutation (E) is a rather loose term but would be part of a karyotyping test or a PCR test.

Answer 47

C. Stop the transfusion, take down the giving set, give IM adrenaline immediately It is good to be familiar with the Handbook of Transfusion Medicine, even wothout knowing that specifically this is clearly an anaphylactic reaction to the transfusion. This maes (A) a shocking answer! The first thing with any allergic reaction is to remove the antigenic substance, in this case, the blood after that IM adrenaline should be given. This means that (D) is the wrong order, and (B) doesn't treat the patient. If the patient has responded with anaphylactic shock to this unit of blood then restarting it (E) is absolutely wrong.

Answer 48

B. Boy: 1/2; Girl: 0 Wiskott-Aldrich syndrome is an X-linked condition where a mutation in the WASp gene causes problems with the cell cytoskeleton. It causes the symptoms reported in this vignette. Even if you had never heard of this condition you can work out that it is X-linked. With an obscure condition we can discount it being an autosomal recessive, it has affected 3 generations out of 5 of this womans family, unless there is some serious consanguinity this is statistically improbable. If it were autosomal dominant it couldn't have skipped generations as in this case, it would be a continous line of sucession that either persisted or became extinct. Logically it has to be X-linked or X-dominant. If it were X-dominant then the daughter of an affected male would have the condition, the mother in this case is unaffected, so this must be X-linked. Knowing this, we know that the mother is a carrier, she has a 50% chance of passing the afflicted X-chromosome on to any boys or girls she has. However the girls can only be carriers not affected individuals. This gives us our answer of (B). (A) is the probability for an autosomal recessive trait where both parents are carriers. (C) is where it is autosomal recessive with one parent as a carrier and the other is not. Or it is an autosomal dominant and the mother hasn't inherited the defective gene. (D) only makes sense if the father is a carrier of an x-dominant trait (E) would be if the mother was affected by an x-linked condition.

Answer 49

A. Gram-positive cocci and herpes simplex virus The two important complications of eczema are cellulitis, or bacterial superinfection, and eczema herpeticum (caused by herpes simplex virus). Knowing this we can exclude (C) and (D) which both reference different names for the causative organism of chicken pox/shingles. In order to choose from the remaining options we need to know that the causative organism for cellulitis are gram-positive cocci of the genus Staphylococcus and Streptococcus. Therefore our answer is (A).

Answer 50

C. X-linked agammaglobulinaemia The specific mention of the lack of cardiac anomolies or dysmorphic features tells you this isn't Digeorges (A). The mother is HIV negative so it's unlikely that her 3-year old caught the virus (E) by a route other than vertical transmission, especially when you consider the history with the brother. SCID (D) would present earlier in life, and would likely have been fatal before now if it was undiagnosed. Complement deficiency (B) typically predisposes those affected to meningococcal sepsis. If you consider that this condition has affected two brothers from different fathers then it makes an X-linked condition likely. In X-linked agammaglobulinaemia there is a lack of B-cells and thus, antibodies. This leaves those affected prone to getting bacterial infections and in particular, respiratory infections.

Answer 51

B. Neisseria meningitidis Deficienciesin the complement pathway can predispose to a variety of conditions. A deficiency of C3 results in reccurent pyogenic infections. This is because C3 is cleaved into C3a and C3b which are responsible for chemotaxis/mast cell degranulation and opsonisation , respectively. Without these mechanisms full blown bacteriemia is common. In this case the deficiency is later, at C5-C9, this is well known to predispose to infection with N.Meningitidis (B). Another complement deficiency, involving C1, C2, and C4 is associated with autoimmune conditions such as SLE. Of the other answers here; encapsulated bacteria such as (A) and (C) particularly affect those with without a spleen or hypospleenism. (D) and (E) are associated with increased rates of infection in the immuno compromised, such as HIV, steroids, or immunosuppresive drugs.

Answer 52

D. Back to back salbutamol and Atrovent though oxygen driven nebuliser This child is having a life-threatening asthma attack, but we still need to follow the stepwise British Thoracic Society guidelines. The first step in this treatment pathway is back to back Salbutamol nebulisers (D) there is a benifit to these being oxygen driven due to his hypoxia. Giving oxygen alone (B) is of little benefit as it doesn't improve the disease process. The second line treatment is IV salbutamol/aminophylline and magnesium sulphate (D). THis however is only used after back to back salbutamol inhalers have failed.

Answer 53

E. Bronchiectasis A severe respiratory infection in early childhood can present later as Bronchiectasis (E), this is due to dilation and poor mucociliary elevator action. As with any chronic illness this can impact on the growth of the child, as we see here. Of the other options herer, Asthma (D) is always a possibility in children with a chronic cough. You would expect it to be a nighttime cough with other atopic signs. CF (A) would likely have gastrointestinal involvement, and a through history might elucidate this. In additon, as CF is on the newborn screening programe it is unlikely to have been missed in this 3-year old. Reccurent pertussis (B) is all but impossible, once teated pertussis has an natural immunity (it does wane over time). The child wouldn't get re-infected at the age of 3. Habit (C) would be a diagnosis of exclusion.

Answer 54

S.Pneumoniae (C) is the most common cause of pneumonia, and would be most likely in those under 4. M.Pneumoniae (B) is the more common organism in older children presenting with pneumonia. TB (B) is not consistent with this short history and lobar focus. You would also expect a haistory of weight loss and fevers and a degree of anorexia. Both Staph (A) and Chlamydia (E) pneumonia are possible but less likely organisms statistically.

Answer 55

A. Pancreatic insufficiency In this condition there is a polygenic inheritance that leads to porr or uncoordinated movement off the cillia. This leads to problems with all of the body systems that rely of cilliry action to function correctly. Of the options here the reproductive tract (B) (Ductuli efferentes in males or fallopian tubes in females) requires coordinated cilia to function. The sinuses (C) need cillia to clear mucus, failure here leads to sinusitis. Finally loss of cillia function in the respiratory tract (D) leads to inability to clear debris and pathogens and this leads to recurrent cheast infections. Interestingly, during embyonic development cillia are also crucial for determining the site of the internal organs, the loss of function leads to dextrocardia (E) or full situs inversus. Of the options here, only pancreatic secreations (A) do not require cilliated movement, they instead rely on smooth muscle action.

Answer 56

B. Chronic lung disease (bronchopulmonary dysplasia) the definition of chronic lung disease (B) is that there is a continued requirement for oxygen at 36 weeks corrected gestational age, or 28-days post-partum. In this case we clearly see that this is the case with this infant. This conditionis found in premature babies as a consequence of barrotrauma or other ventilation trauma during the neonatal period, surfactant deficiency or due to oxygen therepy. Its effects can be mitigated by using the minimum amount of ventilatory support needed in premature infants. These children are particularly vulnerable to RSV and often recieve preventative monoclonal antibodies. RDS (A) is due to surfactant deficiency and may occur soon after birth. If it persists then it becomes, by definition, chronic lung disease. This isn't the presentation of CF (C), you would expect meaconium ileus or neonatal jaundice. If there was a diaphragmatic hernia (D) or renal issues, then it would result in pulmonary hypoplasia (E) and this would present with severe respiratory problems at birth.

Answer 57

C. Right middle lobe The right main brochus is the most vertical and it's the shortest, as such it is the site for the majority of inhaled foreign bodies. Of the three lobes, it is the middle lobe (C) that has the most direct parth in terms of it's bronchi, so it is the most likely location for this inhaled object. See the attached image.

Answer 58

A. Newborn blood spot screening During the national newborn blood spot screening (A) programme infants are screened for CF as well as Sickle cell disease, congenital hypothyroidism, Phenylketonuria, and medium chain acyl dehydrogenase deficiency. They are just rolling out four further metabolic diseases that wil soon be nationally tested for; maple syrup urine disease (MSUD), isovaleric acidaemia (IVA), glutaric aciduria type 1 (GA1), and homocystinuria (pyridoxine unresponsive) (HCU) If the sample taken at the screening test is positive for immune reactive trypsin then it will warrant further genetic testing (D) to identify the mutation causing the cystic fibrosis. Following this the gold standard test is the seat test (E) to confirm. Faecal elastase (D) is a marker of pancreatic insufficiency, a consequence o0f CF, but not always present. A chest x-ray (B) in a newborn is rather pointless.

Answer 59

C. pH 7.20 PCO2 kPa 8.2 PO2 8.3 kPa BE +2 HCO– 3 26 mmol/L Due to the illness process he is having increased work of breathing, and this is leading to him tiring . This will result in a type 2 respiratory failure, as we see in (C), this is because he is not breathing effectively enough to oxegenate (saturations are falling), and so he couldn't possibly be blowing off enough CO2. (A) and (B) don't demonstrate the hypercapneia we would expect, in fact (A) is a metabolic acidosis, while (B) is normal. (D) is hyperventialtion without sufficient oxygenation, this may have been his blood gas prior to exhaustion. (E) is a metabolic alkalosis.

Answer 60

E. Reduced FVC, normal FEV1/FVC ratio Muscular Dystrophy causes a restrictive pattern of respiratory pathlogy, this is due to the weak intercostal and diaphragm muscles, combined with scoliosis (which restricts cheast wall expansion). The restrictive spirometry result here is (E). (A) is an obstructive picture, as seen in asthma, for example. (C) is a hallmark of asthma Flattened diaphragms (B) is seen in hyperinflation with air trapping, this is found in bronchiolitis. Extrathoracic obstruction (D) would e if there was an obstruction of the airway at a level higher than the thoracic inlet. You would expect syptoms of cough or massive lympadenopathy.

Answer 61

E. NAI; discuss with social services and paediatric consultant and admit the child to a place of safety A posterior rib fracture is highly indicitive of a NAI, this is because the point of greatest stress on a rib is the sharpest angle, near the angle of the rib. This means that accidental injury, (B) and (C), are unlikely. Birth should not lead to rib fractures (A) and they should be pretty healed at 10 months anyway. Birth trauma tends to lead to clavical fractures (shoulder dystocia or forceps use). This child needs safegaurding, he needs to be admitted to ensure safety (E) and the consultant involved. Discharging the child would be inappropriate (D). In this case it may well be that the child is inconsolable after feeding due to reflux disease. The implication here is that the parents have injured the child out of frustration/anger.

Answer 62

B. Ventricular septal defect (VSD) in decreasing order of frequency; B. Ventricular septal defect (VSD) - around 1/3 of all congenital heart defects D. Patent ductus arteriosus - Just over 10% of congenital heart defects The remaining three conditions (below) each account for about 5% of congenital heart defects. A. Coarctation of the aorta C. Atrial septal defect E. Transposition of the great arteries

Answer 63

D. Vomiting with feeds congenital heart disease may present after the ante-neo-natal period with signs which can be obvious or subtle. The classic presentation of congenital heart disease are when children become breathless (A) and sweaty (E) when feeding. This additional effort of feeds (already the most energy intense activity in an infant's life), means the child will often have restricted growth and may lead to failure to thrive. The back pressure of right-sided heart failure leads to Hepatosplenomegaly (C), it is unlikely you will see a raised JVP in an infant as the neck is very short. Cyanois (B) occurs in a right-to-left shunt. There isn't a reason why a cardiac defect would cause vomiting (D), this is more in keeping with a reflux disease.

Answer 64

B. Diastolic murmur Characteristics of an innocent murmur are; a soft blowing systolic murmur (A), located at teh left sternal edge (D), with no radiation, and no diastolic component (B), or parasternal thrill (E) and normal heart sound in an asymptomatic patient (C).

Answer 65

E. Give oral dexamethasone and observe This child has undergone corretive cardiac surgery and this has resulted in pulmonary stenosis. At this point in time the child is presenting acutely with croup, this is a viral illness and so the best treatment in this case (as in other children) is oral dex (E). This will help with the acute airway swelling and potential compromise. If his observations improve then he should return home. There is no fever, and no exudate on the tonsils to suggest a bacterial tonsilitis, so antibiotics are not indicated (A or D). Admitting (C) without actual treatment would not be wise. He is not in heart failure (no gallop rhythm, no hepatomegaly, no basal crackles so a diuretic is not indicated here (B).

Answer 66

D. Tetralogy of Fallot This is a presentation of a cyanotic heart disease, the presentation at three days of age with these signs of circulatory compromise marks this as a duct-dependent congenital heart defect. . The closing of the ductus arterious means that there is no compensatory flow to account for defects such as ToF (D), pulmonary atresia, tricuspid atresia, transposition of the great arteries (C), and totally anomalous pulmonary venous drainage. As such when the duct fully closes, they will become cyanotic (they will turn blue)\> The ductus arteriosus needs urgent reopening with a prostaglandin infusion. As such, this case is not a patent ductus arterious (E), and is in fact, presenting acutely because of it closing. Coartation of the aorta (A) does not cause cyanosis centrally. a VSD (B) will produce a left to right shunt, so is not cyanotic. The exception is when this is untreated for many years and pulmonary stenosis develops (usually as tenagers) and this leads to an increase in right sided pressure, and then it becomes a right to left shunt, this is known as Eisenmenger's syndrome. In the case we have here, there are several features hich point towards a diagnosis of Down's syndrome. This syndrome is associated with VSD, ASD, and ToF (D), which is in fact the answer in this case.

Answer 67

C. Give antibiotics and prostaglandin intravenously while organizing an echocardiogram Here we have a blue baby with a murmur, the correct approach here is to treat them as a duct-dependent anomoly until shown otherwise. The most important thing here is to keep the duct open, this is achieved with the use of IV prostaglandin. We also need to find out what cardiac anatomy we have in this case, so an echo is needed. Finally we have to appreciate that a septic baby could present mottled and with a flow murmur, until the echo there is not a rapid way of ruling ot sepsis, so antibiotic cover is the last part of the management plan (C). This is why option (B) is incorrect, it neglects to cover in case of sepsis. There is no reason to stop the administration of oxygen (unless the cardiologist specifically tell you to), as such (A) is wrong. Indomethacin (D and E) is used to close a patent symptomatic duct, so is the wrong choice here.

Answer 68

A. Supraventricular tachycardia (SVT) This child has a heart rate of 180 with narrow complex rhythm, this tells you that the impuls is being conducted along the physiological route, as oppossed to a rhythm being generated within the ventricles. Knowing this we can exclude a ventricular tachycardia (E) as that would have wide complexes with no identifiable p waves. Equally ventricular fibrillation (C) can be excluded as that would be fast wide, rather chaotic complexes. AF (F) would have no discernable p waves All we can say for certain with this child is that he has a supra-ventricular rhythm (A), which could be a result of an accessory pathway, such as WPW (B) or it could be due to AF (D), but the question here asks what the most appropriate initial diagnosis is, and that is the broader term of SVT.

Answer 69

D. Vagal manoeuvres As the child is alert, the first step should be to perform vagal manoeuvres (D), examples incude; getting the child to perform a valsalva manuveour for 20 seconds (blowing up a syringe), unilateral carotid sinus massage, or inducing a mammalian diving reflex (through immersing the head in ice water). During these manoeuvres the child should be connected to cardiac monitoring to assess the effectiveness of them. If these vagal manoeuvres fail, then adenosine (B) is the next treatment option. Only if adenosine fails, would you lookto perform a synchronised shock (E) under sedation. If the child loses conciousness then you wouldn't wait for the sedation. Adrenaline (B) would only be used if the child lost cardiac output. non-synchronised cardioversion (A) would only be used in VF or pulseless VT. THis is because in other situationsit can cause VF if te shock arrives at the same time as the QRS complex

Answer 70

D. Eisenmenger’s syndrome This child has likely got a large VSD that has remained uncorrected, this had lead to Right ventricular hypertrophy and failure, she now also has pulmonary hypertension and a right-to-left shunt causing the cyanosis and symptoms of hypoxia. This constellation of symptoms is Eisenmenger's syndrome (D). There are no infective symptoms to suggest endocarditis (A). An undiagnosed ToF (B) would not have survived to the teenage years. A VSD causing a left to right shunt (C) was the origional pathology in this case during infancy. It would not have caused cyanosis until it reversed. Ebstien's anomoly (E) is a combination of an abnormal tricuspid, hypoplastic right ventricle and pulmonary stenosis. The child would not have survived to be a teenager without corrective surgery. .

Answer 71

E. Fever Funnily enough, fever (E) is only a minor criteria of rheumatic fever. Major criteria are; pancarditis, murmur (A) or valvular dysfunction, myocarditis, heart failure, pericarditis - [rub, effussion or tamponade], polyarthritis common in the knees (B), wrists and ankles [may be fleeting and variable, it also has to last greater than a week, so not to be mistaken for a reactive arthritis], sydenhams chorea (D) [starts 2-6 months post infection], Erythema marginatum (C), subcutaneous nodules. Minor criteria are; Fever (E), arthralgia,family or personal history of rheumatic fever, raised inflammatory markers, and ECG changes {prolonged PR interval].

Answer 72

B. Coarctation of the aorta This child has the clinical signs of lower limb low blood pressue (difficult femoral pulses), high BP in the Left arm and a very high BP in the right arm. Given this picture we know that the blood pressure leaving the left ventricle is elevated but at a location between the Braciocephalic artery and the left subclavian artery there is a drop in blood pressure, there must be a stenosis at that point. This is therefore a case of coarctation of the aorta (B). This is supported by the radio-femoral delay and the systolic murmur at the aortic area (a flow murmur across the narrowed aorta). The BP in the left arm is not normal, and the other findings bmean that (A) is incorrect. The lack of bruits in the abdomen and the uneven blood pressures mean that this is not a renal artery stenosis (C). A phaeo (D) would produce elevated blood pressure evenly across all limbs in an episodic fashion, there would also be other sympathetic effects reported. White coat hypertension (E) is a diagnosis of exclusion, and with the pathology found here it cannot be the answer.

Answer 73

B. Central cyanosis These can all be signs of cardiovascular disease, but in the case of cyanosis (B) it isn't by itself a sign of heart failure. It can be a sign of lung pathology or a right-to-left shunt, but these are not signs of failure (although they may lead to it). A scattered wheeze (A) or bi-basal crackles are signs of right heart failure leading to pulmonary oedema. Dependent oedema (C) is seen in infants who are mostly lying down. Tachyopnea and a displaced apex beat (D) indicate left ventricular hypertrophy Hepatomegaly (E) is due to back pressure in the venous system leading to congestion.

Answer 74

E. Transposition of the great arteries of the cardiac defects in children with Down's syndrome; 40% are AVSDs (D) 30% are VSDs (C) 10% with ASD (B) 6% with ToF (A) Transposition of the great arteries (E) is often found together with ASDs and VSDs, but it isn't associated with Down's so this is the odd one out here.

Answer 75

A. Venous hum murmur and vasovagal syncope A low rumbling murmur heard above the nipple line, with a normal ECG, is a venous hum and is so a normal finding in children. She has a normal cardiovascular work up so this points to vasovagal syncope (A). This is suported by the history of triggers being anxiet or prolonged standing. There is no suggestion of an epileptic prodrome, a post-ictal phase or any fitting, making epilepsy (B) unlikely. WPW (C) would have delta waves on the ECG a PFO (D) would be sen on the echo and sick sinus would appear as a bradycardia on ECG. Neurocardiogenic syndrome (E) would be diagnosed on a tilt table test, and doesn't have this kind of prodromal dizzyness.

Answer 76

C. Admit for a lumbar puncture, blood cultures and chest x-ray, IV antibiotics This child has a rather non-specific presentation, the vomiting could be due to infection, surgical abdomen, reflux and a raised ICP. This child is febrile, which makes us think of infective causes but any child under 3 months with fever needs a septic screen. The septic screen involves; blood culture, urine culture, CSF culture, CXR and inflammatory markers (CRP). This means that option (C) is our answer here. (E) is a dire option, (A) relies on the urine dip results to be accurate and that this is a UTI and not a different source of infection. Given that urinary leukocytes are not a sensitve measure in isolation, or indeed in infants, this would be a reckless course of action. If the urine culture grows more than 105 colony forming units per ml of a single organism, then a diagnosis of UTI can be made and option (B) would be appropriate. Imaging after a UTI is necessary in infants, be this an ultrasound or DMSA (D)(dimercaptosuccinic acid scan, a form of radioisotope scan), to assess for damage to renal morphology. This would, however, need to be done at least 6 weeks after the infection, as the images in the acute phase will be misleading due to inflammation.

Answer 77

D. Nephrotic syndrome with hypovolaemia Nephrotic syndrome is defined by a triad of proteinuria, hypoalbuminaemia and generalised oedema. The generalised oedema here goes against a diagnosis of periorbital cellulitis (A), especially given teh lack of infective symptoms. There is no skin rash, blister or wheals, and no airway/coryzal symptoms to suggest this is an allergic reaction (B) C1 esterase deficinecy (E) causes hereditary angiodema, as this is an autosomal dominant condion you would expect some family history here. It presents usually as isolated facial and oral swelling. The generalised oedema is a rare presentation, but the systemic shock in this case makes it unlikely. Once we know that this is Nephrotic syndrome, we only have to see how shocked this child is to know that there is a loss of fluid to the interstitium, leading to hypovolaemia (A)

Answer 78

A. Repeat the blood pressure on three different occasions Just as in adults you wouldn't jump to managing/investigating hypertension without three seperate blood pressure readings (A). There could be many reasons why this is a anomolous BP reading for this child. A manual reading is always prefered to an automated machine (D) If the BP is still high on 3 occassions then you would investigate and manage, with advice from the nephrologists (B). Sodium nitroprusside (C) is used to treat malignant hypertension, which is unlikely here. Discharge home with no further investigation (E) is a poor call. The causes of hypertenson in children include: Essential hypertension,renal (artery stenosis, CKD, Wilm's tumour), Cardiac (Coarctation of the aorta), endocrine (Cushing's. Phaeo, neuroblastoma) and metabolic (Hyperaldosteronism, Congenital adreanal hyperplasia).

Answer 79

D. Urinary catecholamines This child's history is consistent with a Wilm's tumour, this tumur can result in hypertension (B) (due to renal artery stenosis), renal impairment (C), metastases (E) is always a concern with malignancy, and the anorexia common with serious disease can lead to malnutrition (A). The prescence of catecholamines in the urine (D) is more consistent with a phaeochromocytoma, or a neuroblastoma.

Answer 80

E. Henoch–Schönlein purpura HSP (E) is based of several diagnostic criteria, these are; Arthralgia, Rash (can be simple urticarial, right through to purpuric), abdo pain, and renal involvement (nephrotic syndrome or hypertension). It is a common condition that affects 3-10 year olds, usually preceeded by a viral illness. Although it can casue severe GI and Renal problems, it is usually self-limiting. . Diabetic ketoacidosis (A) is always going to be a concern in a child with vomiting and abdo pain. but this child has normal observations. A viral gastroenteritis (B) could precipitate a reacive arthritis, but this would follow the illness not be concurrent. A purpuric rash will cause many to jump to the idea of meningococcal sepsis (C), but with the normal observations this is very unlikey. If meningococcal sepsis had progressed to having a purpuric rash this extensive the child would likely be in shock. ITP (D) would have a rash, but the other symptoms here do not fit, there would also be a thrombocytopenia reported!.

Answer 81

B. Haemolytic uraemic syndrome E.coli o157 is classically linked with visits to farms, petting zoos and slaughterhouses. It produces a particular toxin that causes a massive inflammatory reaction, resulting in a triad of; microangiopathic haemolytic anaemia, acute kidney injury, and thrombocytopenia. The damage done by haemolytic uraemic syndrome (B) may in itself cause an aki (A) as detiled above, the child may suffer from dehydration and fluid loss leading to (C). Post-gastroenteritis syndrome (E) may be a case of new food intolerances due to damage to the mucusoal enzyme activity in the gut (lactose intolerance is an example of this). HSP (D) can follow an acute viral infection, but that is not the pathology here.

Answer 82

E. Pre-renal cause of acute kidney injury This girl suffered a scald injury some 10 hours ago (alarmbells for NAI should be ringing). Since that time she has suffered severe dehydration due to the compromise of the barier function of the skin. She has now moved beyond dehydration (D) and is showing signs of shock and acute kidney injury. This is best charecterised as a pre-renal failure due to hypovolaeimia (E). The damage may later lead to acute tubular necrosis, a renal cause (C), but at this time it's all about the pre-renal. Causes of post-renal failure (A) include kidney stones and bladder obstruction, physical and neurological. Poisoning (B) should be considered, especially in this context of potential NAI and the presentation of a drowsy child. But the results here point to an acute kidy injury as the most obvious pathology.

Answer 83

D. Micturating cystourethrogram In this case there is a presentation of a large palpable bladder cmbined with 24 hours of anuria. THis picture is highly suggestive of a bladder outflow obstruction. Given this information and the poor urinary flow, the protagonist of our tale has hypothesised that this child has posterior urethral valves. To confirm this diagnosis you need to conduct a dynamic imaging study of the bladder and urethra, the test of choice is a micturating cystourethrogram (D). A DMSA scan (A) and renal biopsy (B) would be useful for looking at the kidney A CT scan (C) would be unlikely to adequately show the urethral valves, it also lacks the dynamic flow visualisation. A renal ultrasound (E) would be a reasonable imaging technique in this scenario, but it is inferior to the cystourethrogram.

Answer 84

C. Diclofenac Post transplantation this child is going to need to be on several drugs, broadly speaking these will be immunosuppresive drugs to prevent rejection of the transplanted organ, Tacrolimus (B) here, and antibiotics to act as prophylaxis, Septrin (A) here. With a renal transplant there are some special considerations, the child may have impaired growth,and need GH (D) supplementation, and as the kidney is the site of EPO (E) production this may be deficient and need an endogenous source. The odd one out here is Diclofenac (C, it is a NSAID, and like all NSAIDs, it is nephrotoxic and can cause harm to a patient with any renal impairment.

Answer 85

D. Autosomal recessive There are two types of polycystic kidney disease, there is an autosomal dominant disease (A) which presents in older children or adults, it involves cysts composed of grossly dilated nephrons which compress the normal renal architecture. This girl's diagnosis was early in life, which is more consistent with the autosomal recessive (D) type. This involves bilateral renal involvement, with masses, respiratory distress due to pulmonary hypoplasia, and congenital hepatic fibrosis and pulmonary hypertension. The pathology involves tubular dilation of the distal collecting system, it is progressive, with renal function deteriorating over several years until replacement therapy is needed.

Answer 86

C. Exchange transfusion This girl is having a painful crisis as the small blood vessels supplying the bones in her leg have become occluded. This may well be due to the cold (it is december in this scenario), dehydration, hypoxia or illness. The management of a painful crisis is to provide pain relief, such as oramorph (E), and then correct any precipitating causes of the painful crisis (A, B, and D) as well as warming the patient. If there is a marked drop in Hb then a top-up transfusion may be indicated. An exchange transfusion (C) is only indicated for priapism, chest crisis, and stroke.

Answer 87

D. Admit and monitor the haemodynamic status and administer a fluid bolus This girl has typical signs of ITP, her low platelet count and mucosal bleeding. It can occur a few weeks after a viral illness, as in this case., and it vrought about by an autoimmune destruction of platelets. It occurs most frequesntly in children aged 2 to 10, and is a self limiting condition, but supportive management is somethimes needed. In this case the girl is demonstrably hypovolemic and cannot simply be discharged (E). As is the normal practice with a haemodynamically unstable patient the first step is to give a fluid bolus and monitor for it's effect (D). Donor platelets (A) would just be destroyed in the same auto-immune process. An endoscopy (B) would be indicated if we suspected an upper GI bleed, but given the history we believe the reason for the bleeding is the low platelets, there is also the increased risk of further bleedng due to the procedure. IV Ig and steroids (C) would be indicated if the child continued to bleed , but before this step you would want a bone marrow aspirate to esclude a malignant cause.

Answer 88

E. Tumour lysis syndrome The prescence of Auer rodsin the blood film tells you that this girl has Acute myeloid Leukaemia. As a result of the condition she has a very high WCC and a reduction in the other cell lines. This anaemia can result in heart failure (C), the low platelets can cause bleeding (D), and the neutropenia can lead to infection (B) and sepsis(A), the most important consideration is tumour lysis syndrome (E). As treatment for AML begins there will be a rapid destruction of cells, this will result in the release of electrolytes, urea and lactate. Prior to commencing treatment there needs to be prophylactic hyperhydration, an anti-urate drug (allopurinol or rasburicase) and electrolyte monitoring.

Answer 89

D. Factor VIII and IX Haemophillia A is due to deficiency in factor VIII, Haemophillia B is due to a deficiency in factor IX. These conditions are -linked and they can be of varying severity depending on how much function remains. treatment revolves around replacemnt clotting factors, desmopressin to stimulate clotting factor production, special consideration of clotting prior to any surgery, and physiotherepy for arthritic joints.

Answer 90

A. Finger clubbing This question is all about the long term effects of radiotherapy and chemotherapy, the big concern is seconday malignancy due to high levels of radiation, eg Leukaemia and Lymphoma (B). The long periods of missed school or impaired ability to concentrate, hearing or visual loss can all contribute to educational difficulties (C). The radiotherapy can damage the spine or reduce the ability of the pituatary to produce growth hormone, leading to short stature (D). Both radio and chemotherapy can lead to gonadal dysfunction (E). Clubbing (A) is not caused by radiotherapy or chemotherapy, it is a consequence of many lung, cardiac and GI pathologies.

Answer 91

A. Autosomal dominant We see here that this girl has von Willebrand's disease (vWD) and has the typical presentation of unusual bleeding. The blood tests show that her vWF is low but not absent, this tells us that she has vWD type 1 (a partial deficiency of vWF), which is inherited in an autosomal dominant (A) fashion. Type 2 is defective vWF, and is also autosomal dominant Type 3 is a total abscence of vWF and is autosomal recessive X-lnked (C) would be the haemophillias A robertsonian translocation (D) is the fusion of two chromosomes at the centromere with teh loss of the short arms. This can lead to Down's syndrome or loss of the pregnancy. Sporadic mutations (E) are not linked with vWD, but are associated with the majority of cases of Achondroplasia

Answer 92

E. Haemolytic uraemic syndrome (HUS) The history here of contant with farm animals is quite a classic EMQ lead in for heamolytic uraemic syndrome (E), caused by strains of E.coli (o157) and Shigella gastroenteritis, where an enterotoxin is produced that creates a massive inflammatory response. Treatment is usually supportive, but renal replacement therapy may be needed. A platelet disorder (A) could explain the bleeding we see here, but doesn't explain the renal impairment. IBD (B) is unlikely in a child this young, and would present with abdo pain, weight loss, bloody diarrhoea and anaemia. You would also expect a more chronic picture than the two day history in this case. Severe dehydration (C) may lead to the renal impairment we see here (pre-renal AKI) but it doesn't explain the haemotological results here. HSP (D) is a array of symptoms, including; arthralgia, a purpuric rash, abdominal pain, and renal compromise. There may be bloody diarrhoea due to vasculitis in the GI tract and renal failure, but this is not a hallmark of HSP. Given that we have no other symptoms of HSP, it seems unlikely.

Answer 93

C. Hb 5.5 g/dL, MCV 55 fl, ferritin low, iron low, vitamin B12 and folate normal This child is going to be profoundly iron deficient, hence the pica (eating of non food items ) we see here. The pale conjunctiva support this supposition. Given the clinical picture of a severe iron deficiency anaemia you would expect a microcytic anaemia with low iron stores (ferritin) as well as low circulating iron, this is consistent with option (C). This situation has likely arisen due to prolonged breastfeeding and delayed weaning. of the other results here; (A) is a normal result (B) is a macrocytic anaemia, likely due to the folate and B12 deficiency (D) is a microcytic anaemia with normal iron, suggesting something like a thalassemia or sideroblastic anaemia. (E) is a macrocytic anaemia with normal folate and B12, suggestive of hypothyroid, liver disease or a myeloproliferative disorder

Answer 94

A. Beta thalassaemia The question stem tells you that there are no spherocytes or sickle cells, tis effectively excludes (D) and (B). This child is too old to be presenting with an ABO compatibility issue (C), there would also likely be a positie result from the DAT test. So we are left with to options, of these, G6PD deficiency (E) would present witht eh jaundice and anaemia seen here, but it is an episodic comdition precipitated by an illness or a dieteray precipitant. The fact that this child has extra-medullary haemopoesis (frontal cranial bossing), we can infere that the process here is severe and chronic. This means that beta thalassaemia (A) is the most likely diagnosis here. Beta thalassaemia is an autosomal recessive haemolytic anaemia that presents after 6 months of age as the body starts to produce haemoglobin A (made of 2 beta and 2 alpha chains), which in beta thalassemia cannot occur.

Answer 95

B. Leukaemia This presentation of widespread bruising and petechiae should make you worry about a low platelet count. Of the options that we have here only two of them (B and C) would cause a thrombocytopenia. This child has 'B' symptoms such as lethergy and weight loss, which points us towards Leukamia (B). HSP (D) does not cause a thrombocytopenia but could produce the lower limb bruising, there would also be abdominal pain, haematuria and arthralgia, which there is not here. ITP (C) is also ususally a post-viral condition, it wouldn't usually present concurrently with the period of illness. NAI (A) would be a concern if the blood results were normal. Accidental injury (E) is unlikely with brusing of different ages that is sited on the buttocks, the petechiae on the neck and face are also incongruent with this mechanism.

Answer 96

B. This is a port wine stain and the baby needs an MRI scan to check for intracranial involvement A port wine stain (naevus flammeus) (B) is a flat erythemotous area caused by a vascular malformation in the dermis. It is present from birth and will persist for life. In this particular case it is present in a trigeminal distribution which means there is a risk of Sturge-Weber syndrome, where there is intracranial involvement that could lead to seizures and developmental problems. A strawberry naevus (A) (cavernous haemangioma) is not normal present from birth, they will grow larger before they outpace thier blood supply and shrink down and disappear, usually before the age of 5 years. They can interfere with neighbouring structures, but crucially they are not a flat lesion. A capillary haemangioma (C) is a pink macule found on the nape of the neck, eyelids, or central forehead. They are caused by distended dermal capillaries, and mostly fade over the first year. They are not found on teh lateral face. This is a well child with normal observations, Cellulitis (E) seems unlikely in that respect. Erythema toxicum (E) would be pustular, it would come and go all over the body for the first few weeks of life. The morpholoy of the rash is not correct for that condition.

Answer 97

C. Refer to hospital for intravenous antibiotics This child has some very badly infected eczema, the likely causative organism here Staphylococcus (yellow crusting), but there is a possibility this is eczema herpeticum. In this scenario he is systemically unwell with a likely fever and he needs IV antibiotics, and assesment in hospital (C). If he was not unwell with the skin infection then oral antibiotics and emolients would be a good management plan, but using topical antibiotics (B) will just create an enviroment to select for resistant strans. Exploring contributory factors such as cow's milk allergy (D) would be wise, but this is not a step for the immediate management here. Emollients and soap substitutes (A) will also form part of the ongoing management, but it is not our first step. Steroid creams (E) should not be used on infected skin as these have an immunosuppresive effect.

Answer 98

E. Capillary rupture secondary to raised pressure in the superior vena cava distribution The parents have done the 'glass test' and are now concerned this means meningococcal sepsis (A), given that this girl is well, with no signs of shock or meningism this is unlikely. It would be prudent to admit her for observation though. The distribution of the petechiae are in the area of the SVC drainage, this supports the diagnosis of capillary rupture (E), secondary to vigorous coughing and vomiting. This type of capilliry rupture is also seen in babies who have been shaken, or stragulation injuries. The coughing here could very likely be the cause of the vomiting, but as it could be a sign of meningococcal sepsis, then that supports that this child should be kept in for monitoring. ITP (B) is a complication that can arise about a week after a throat infection, it is unlikely to appear at the same time as the illness, as in this case. As mentioned above, this pattern of injury could be due to a strangulation injury (D), but there is a more likely explaination here. HSP (C) is a vasculitis of the small vessels and will cause a purpuric macular-papular rash on the buttocks and extensor limb surfaces. This doesn't fit with this case, there would also be a renal compromise , arthralgia and abdo pain.

Answer 99

C. Meningococcal sepsis The slow capillary refil time combined with the expanding rash that is becoming purpuric are alarming signs for DIC a component of meningococcal sepsis (C). ITP (B) is a condition ususaly seen about a week following an infection in well children. It doesn't present in a background of a profoundly unwell child. The leukocytes are non-specific for a UTI (A) especially without nitrites in the urine. HHV6 (D) would cause a febrile illness with a rash, but it would not be purpuric and the child would not be shocked. DKA (E) is not indicated here as there is no evidence on the urine dip of hyperglycaemia.

Answer 100

With paediatric burns, it is useful to remember the rule of 9's Each arm is 9%, the chest is 2x9% (18%) and the back us another 18% The head is another 18% The remaining 28% is the legs (doesn't really fit with the rule, sorry). Using this rule in this case; 9% for the face, 18% for the chest, and 9% for the right arm = 36% which is closest to (C) A burn of 50% (D) or 60% (E) would be very extensive.

Answer 101

C. Hepatitis B infection Erythema nodusum is an inflammatory condition affecting the subcutaneous adipocytes, usually appearing as painful nodules on both shins. causes of erythema nodusuminclude; the oral contraceptive pill (A), TB (B), Streptococcal infections (D), sarcoidosis (E), and inflammatory bowel disease. Hepatitis B (C) causes non-specific rashes and jaundice.

Answer 102

A. Molluscum contagiosum Tis child has a the common presentation of Molluscum contagiosm (A), the description of a pearly papule with an umbilicated center is absolutely classic. They are cause by teh pox virus and are self limiting and will resolve within a year. If they are particularly stubbon they may need cryotherapy, they can also become secondarily infected with a bacterial infection which needs treating, but that isn't the case here. Congenital warts (B) is a term for genital or anal warts, not consistent with the distribution here. They can take up to 2 years to apear after the vertical transmission, this may lead to icorrect suspicion of child sexual abuse. Scabies (C) is a burrowing parasite that usually affects the groin, axilla and classically the hands, and finger web spaces. A melanocytic naevi (D) would be hyperpigmented and would not have a central punctum. Guttate psoriasis (E) can follow a URTI and produces scaly pink patches on the torso and arms.

Answer 103

B. Mongolian blue spot A mongolian blue spot (B) is a congenital birthmark, usually found on the lower back and buttocks and it will fade as the child ages. The fact that the child isn't bothered by it goes against this being an injury (A), The child would be much more unwell if this was DIC on a background of sepsis (C). ITP (D) follows an infection, so cannot occur in newborns. vWD (E) would present wih mucosal bleeding.

Answer 104

E. Erythema toxicum The erythemotous rash with pustules in the context of a well newborn is a classic presentation of erythema toxicum (E). This is a benign condition that comes and goes during the first few weeks of life. An infection (B) or (A) is unlikely in a well baby. Neonatal acne (C) would be combined to the face. Molluscum contagiosum (D) would be pearly papules with an umbilicated center. There would not be erythema or pustules.

Answer 105

D. Autoimmune destruction of pancreatic islet cells The other processes here describe the pathology of other diseases; A. - *chronic pancreatitis* B. *Corticosteroid use (Cushing's)* C. *Cystic Fibrosis* E. *Along with reducedproduction of insulin - Diabetes Mellitus II*

Answer 106

C. Diabetic ketoacidosis (DKA) We have a classic presentation of diabetic ketoacidosis in this case. She has developed polyuria, polydipsia and has weight loss. A viral illness has then precipitated this ketoacidotic state (C). The presentation of vomiting and abdominal pain is a common one. It needs to have three criteria to be diagnosed, that we see here, there needs to be hyperglycemia, acidosis, and the prescence of urinary ketones. Gastroenteritis (A and B) could cause all these symptoms, except the glycosuria. Chronic kidney disease (C) could explain the polyuria but is not a good fit in terms of an acute episode and the other symptoms of diabetes. HONK (E) is a complication of diabetes type I, it is rare in childhod and does not produce ketonuria.

Answer 107

B. Congenital hypothyroidism There are many features of hypothyroidsm (B) in this child: hypotonia, jaundice, reduced frequency of bowel movement, evidence of goitre (horse cry and large tounge). The newborn blood spot screening looks for high levels of TSH in response to an underactive thyroid, if the baby has a secondary hypothyroid then it will not show on the test. The lack of dismorphic features goes against Down's syndrome (C). Beckwith-Wiedeman syndrome (A) presents with macroglossia, but it has associated features such as macrosomia, hypoglycaemia, hemi-hypertrophy, ans abnormal ear development. Prader-Willi (E) would also lead to hypotonia and poor feeding, but the picture here fits better with hypothyroidism. Jaundice beyond 2 weeks is pathological, this is not a normal baby (D).

Answer 108

D. Optimize carbimazole dose and add propanolol the raised levels of thyroxine are responsible for the symptoms of hyperthroidism, Carbimazole acts to supress the thyroxine production. This girls resurgent symptoms suggest that her hyperthyroidism has gotten more sever and her dosage of carbimazole needs adjusting, adding in propranolol for symptomatic relief would also be advised (D). Propranolol on its own (C) would not supress the excess thyroxine production. Until we have explored other management approaches, radioisotope therapy (B) and surgery (E) are not yet indicated. This patient has symptoms, so choosing no treatment (A) is not an appropriate option.

Answer 109

E. Hypoglycaemia The side effects form an iatrogenic Cushing's syndrome are numerous and concerning. All of the otions listed here, except (E), are side effects, and there are many more. One of the side effects of corticosteroid excess is impaired glucose tolerance, leading to hyperglycaemia, not hypo as (E) states.

Answer 110

D. Karyotype Turner's syndrome is due to a 45XO genotype so the only option here that is diagnostic is a karyotype (D) FISH (E) is for diagnosing microdeletions such as; Digeorge's syndrome, cri du chat syndrome, and William's syndrome. The echo (B) would be useful for congenital cardiac or aortic anomolies. The four limb blood pressure (C) would be useful for coarctation of the aorta. Finally the mid-parental height is useful for establishing if short stature is normal or pathological (eg growth hormone deficiency)

Answer 111

B. Klinefelter’s syndrome This boy is showing signs of abnormal pubertal development, in that he has no develpment of secondary charecteristics of genital growth at 15 years of age. This si not a normal variation (E) as 15 years of age is the point where it is not normal for boys to have not started puberty. This is also not a case of delayed pubery (A) as we would expect short stature. The fact that he hasn't started puberty means that this isn't precocious puberty (C). The two conditions here you would expect to lead to tall stature are Klinefelter's (B) and Marfan's (D). With Marfan's you wuld expect an array of other signs; high arched palate, arm span greater than height, , hypermobility, aortic arch abnormalities, mitral valve prolapse, chest wall deformity, myopia and lens dislocation, and arachnodactly. This is not the case here. The signs we have here (gynaecomastia with delayed puberty, tall stature, and hypogonadism are all associated with Klinefelter's, which is a karyotype of 47XXY.

Answer 112

E. Constitutional delay Cryptorchidism (D) is the condition of undescended testes, which is not the case here. Anorexia nervosa (A) is possible, particularly in light of the bullying, but this child's weight is on a greater centile to his height. This suggests that his BMI would not be in the range for anorexia, but should be checked. Kallman's syndrome (C) is charecterised by low levels of luteinizing hormone-releasing hormone and anosmia, which is not mentioned here. It is very rare, and it doesn;t include gynaecomastia. Hypothalamo-pituitary dysfunction (B) should be investigated, but is not the likeliest scenario here. The commonest cause of delayed puberty, and the likely case here, is constitutional delay (E). It is a diagnosis of exclusion and is charecterised by isolated short stature (delayed skeletal growth) and causes delayed puberty.

Answer 113

D. Bitemporal hemianopia A pituitary tumour grows upwards, as it sits on top of a bony plate (sella turcica), when it gets large enough it begins to press on the optic chiasm. The optic chiasm carries the fibres of the optic tract arising from the nasal halves of the retina (which register images in the temporal fields). As a growing pituitary stretches and damages these fibres you are left with a bitemporal visual field defect (D). Of the oher options here; Monocular blindness (A) is due to a defect before the optic nerve (eg trauma, or cataracts), or a unilateral optic nerve pathology (retinoblastoma). Central Scotoma (B) can result from multiple sclerosis or optic nerve gliomas Homonymous hemianopia (C) is a lesion affeting the optic radiation posterior to the lateral geniculate body, this could be a stroke or cerebral palsy, Myopia (E) is short-sightedness, which has a link to Marfan's syndrome.

Answer 114

C. Renal function tests This girl has a uinary tract infection, as seen in her fever and dysuria. Her body would naturally increase her circulating cortisol in response to illness but due to the exongenous steroid use her hypothhalamic-pituitary-adrenal is downregulated and cannot mount a compensatory response. The upshot of this is that she is now steroid depleted, an Addisonian crisis, this is the cause of her hypotension, vomiting and hypoglycaemia. She is likely to develop hyperkalaemia and hyponatraemia and needs a renal function test (C) to assess this. Knowing her cortisol levels (A) won't actually change her management, which is to give hydrocortisone and IV dextrose, with antibiotics to tret the suspected UTI. Performing cultures (E and D) and doing a full blood count (B) would help to identify the source of the infection, but would not really help to treat the immediate issue here.

Answer 115

A. Reactive arthritis The picture of a mono-arthritis following an URTI/Tonsilitis is typical of a reactive arthritis (A). He is well and apyrexial which makes any infective cause (D) or (E) unlikely. YOu would still do a full blood count ans inflammatory markers for him. Growing pains (C) would not affect the child's ability to weight bear, and would be more a feature at night. NAI (B) should always be a consideration, but there is no evidence of injury here and the xray is normal.

Answer 116

C. Hypermobile joints There is evidence here on examination of hypermobile joints (C), this is the most likely explaination of the joint pain she experiences after activities. Physiotherapy might be useful here to strengthen the muscles surrounding the joint. Marfan's (B) does include hypermobile joints, but there is no ention of any of the other signs associated such as; arm span being greater than height, high arched palate, arachnodactyly, myopia, lens dislocation, or chest wall deformities. There is no history here of repetitive strain injury (A), and this shouldn't be developed as a result of a children's ballet class. There is no evidence of inflammatory joint changes to support either (D) or (E).

Answer 117

A. Analgesia, nil by mouth until emergency internal fixation can be performed A slipped upper femoral epiphysis, is more common in teenage boys who are obese, and can often occur following a minor injury. THis needs to be managed by internal fixation (A), the usual approach is to use a pin. An open approach (B) is unusual as it has a greater rate of avascular necrosis of the femoral head. This option also doesn't call for any analgesia. The risk of avascular necrosis with teh bed rest and traction (C) is very high, and so it is not a reccomended approach. A hip spica cast (D) is the treatment for developmental hip dysplasia Mobilisation (E) will not help with the avulsed femoral epiphysis, which needs to be pinned back in place to prevent avascular necrosis.

Answer 118

D. A fracture of the long bones in young children where only one cortex is broken and the other is buckled Because te bones of children are more flexible a force applied to the bone may result in the bending of the bone rather than breaking it. This can lead to a buckling of the cortex, if there is just a buckle on one side this is known as a Torus fracture (E). If there is a fracture of one cortex with just a buckle on the other cortex (D) this is known as a greenstick fracture. The other options here describe various injury patterns. (B) is a Colles fracture, commonly seen in older patients. In children this type of fall more usually results in a fracture throught he growth plate, known as a Salter-Harris fracture. (C) is a Smith's fracture, the opposite of a Colles. (A) doesn't describe any recognised pattern of injury.

Answer 119

A. Osteogenesis imperfecta Osteogenesis imperfecta (A) is a collegen disorder which is autosomal dominant but with variable penetrance. The most severe cases develop fractures in utero. Given that information it is the most like diagnisis here. Falling over onto a toy truck shouldn't fracture a tibia, and the number of previous fractures mean that this is not a case of a clumsy child (E) and something more serious is occuring. Non-accidental injury (B) is always a considertion where the reported mechanism of injury doesn't correlate with the injury sustained. But the child appears healthy and well loked after, and the prescence of the pathological in utero fracture in the sibling points towards a genetic issue. Osteopetrosis (C) is an inherited disorder with dense brittle bones, failure to thrive, reccurent infections, hypocalcaemia and thrombocytopenia. Aside from the pathological fractures, nothing else is consistent with that diagnosis. Achondroplasia (D) is a form of dwarfism, no association with fractures.

Answer 120

C. Give analgesia and plaster the leg fracture. Contact the parents and inform them that he needs to be admitted. Ask them to come to the hospital and inform social services once they have arrived and been updated Given the suspicion of non-accidental injury here you cannot discharge the child until the injuries have been investigted and explained. This is a child protection issue and is of paramount importance. This means that options (A) and (B) are innapropriate. The police are not a taxi service, and do not ferry people from home to hospital (D)! Your role in this scenario as a medical professional is to treat teh child and document the injuries, collect evidence, and inform the police if you believe this is a non-accidental injury. The first step is finding out more information by taking a history (C), it certainly isn't calling the police and telling them to arrest someone(E), even if you had the authority to do so (only a court can compell a police constable to arrest).

Answer 121

B. Arrange an ultrasound for 6 weeks of age This child has a few risk factors for developmental hip dysplasia; female sex, first child, and breech presentation. Other factors for hip dysplasia not here include; Clubed foot, positive family Hx, oligohydramnios and macrosomia. During the Barlow's examination the hip has displaced and during the Ortolani it has relocated with a 'click'. This is a positve test The most apropriate management is to refer for an ultrasound at 6 weeks (B), it is a sensitive test and waiting until 6-weeks improves the specificity as many cases will have self-resolved. A positive ultrasound would warrent a referal to orthopaedics (A), where the first line therapy would b a Pavlik harness put on by specialist physiotherapists (C) Midwives are not trained to administer a plaster (D), this is also a specific plaster used post surgery when first line correction has failed. Due to the risks in later life of walking with a limp, never walking or avascular necrosis of the femoral head, an expectant management (E) is inappropriate.

Answer 122

D. Polyarticular arthritis – more common in boys, affecting multiple small joints for more than 6 weeks polyarticular arthritis is more common in girls and presents with symmetrical arthritis of the wrists, hands, ankles and knees.

Answer 123

A. Osteomyelitis Here we have a child with a painful joint on a background of being acutely unwell, febrile and the early signs of circulatory shock. Given this picture this is a concern for an osteomyelitis (A) or septic arthritis. THe MRI shows a periosteal involvement, which gives us the answer of osteomyelitits (A). The X-ray showed no trauma to point at a NAI (B) There is involvement up to the bone on the MRI, excluding a diagnosis of cellulitis (C). A reactive arthritis (D) would present a week or two after an infection, this child is acutely unwell. The history is not long enough for JIA (E), which is defined as greater than 6 weeks and no identified infection

Answer 124

A. Muscular dystrophy The presentation of a 'weak' or 'lazy' child, with a waddling gait and with an examination finding of wasting of the quadriceps muscles, leading to calf muscle pseudohypertrophy (were the lower leg looks hypertrophic by comparison), is classic for Muscular Dystrophy, such as Duchene or Beck's. These are X-linked conditions. You would expect a positive Gower's sign, where the child 'walks' his hands up the legs in order to stand up from the floor. The profoundly raised creatine kinase demonstrates muscle cell destruction and is diagnostic here. The other options here are not plausable. Neglect (B) or malnutrition (C) are impossible to identify wthout any detail on his weight and height or thier changes over time. These would not explain the raised CK either. There is no mention of pain which would be a prominent feature of acute myositis (D) Finally, spinal muscular atrophy (E) would present in infancy with a flopy baby and they would never walk.

Answer 125

C. Explain that this was a febrile convulsion and discharge home This is a typical presentation of a febrile seisure which are linked to rapid rises in temprature during the early stages of a febrile illness. They tend to affect children under 5, they are defined by being simple seizures (lasting less than 5 minutes and not requiring medication to arrest the seizure). The parents need reassurance (C) that this is a febrile seizure, they are not usually associated with epilepsy but may reccur in future febrile illness. The child should be managed with regular anti-pyretics and lightly dressing the child when feverish. As tis appears to be a viral tonsilitis (non-exudative) then antibiotics (A, or B) are not indicated, (B) is also incorrect as there is no indication that this is meningoccoccal septiciaemia. Midazolam (E) is used in pre-hospital settings for seizures lasting longer than 5 minutes and phenytoin (D) is used to stop status ellepticus.

Answer 126

B. Absence epilepsy Spike waves are a pathological finding on a EEG, and the description here of 3 spike waves per second in all leads is descriptive of an absence seizure (B). The description of the girl falling behin in her work and being unresponsive is also typical of this condition. Temporal lobe seizures (A) would appear as spikes on the EEG located just in the temporal area. They present clinically as a seizure with a warning aura/sensation that is focal with an unresponsive patient. someone who is day dreaming (C) would respond to being called. Benign Rolandic epilepsy (D) affects young children and presents as early morning partial seizures. Narcolepsy (E) would be causing her to fall asleep spontaneously at inappropriate times.

Answer 127

A. Breath holding attacks Breath hold attacks (A) are not uncommon in toddlers and result during tantrus, THey will grow out of it and there is no treatment needed. Reassurance is needed for the parent that these brief seizures are not harmful. Reflex anoxic seizures (B) occur following an episode where a child gets hurt or frightend. The child will go pale and faint. Absence epilepsy (C) will apear as short (\<5 mins) episodes where the child appears vacant and is unresponsive. The child may appear confused following the seizure, as they realise they have missed something. WPW (D) is a spontaneous re-entrant tachycardia or a SVT that leads to dizzyness, shortness of breath and sometimes causes fainting. There would be a delta wave on the ECG. A vasovagal (E0 is a simple faint, and is linked with standing for long periods or warm enviroments.

Answer 128

E. Moderate HIE This child has experienced a hypoxic insult perinatally during his mother's haemorrhage and is showing the following signs of HIE; poor feeding, altered tone and seizure activity on EEG. A mild case of HIE (D) would have iritibility, startle responses, poor feeding and hyperventilation. Moderate HIE (E) also shows altered tone or reduced movement, and seizure activity. THese ischemic changes are difficult to detect in the early stages on ultrasound, but an intraventricular haemorrhage (A) would not have been missed. Group B strep (B) is a serious cause of neonatal seizures and is life threatening, so when suspected it needs expidient antibiotic treatment. This infant is at descreased risk as this infection is contracted during delivery from the birth canal, whereas this infant was born via caesarean. Also his CRP has returned normal on two ocassions. This child's blood glucose eliminates hypoglycaemia (C) as a cause of the patients condition

Answer 129

B. Multiple sclerosis multiple lesions of the white matter, separated in space and time, is essentially gold standard diagnosis of multiple sclerosis (B). The other options here can cause multiple lesions in the brain but none fit the pattern we see here. Brain mets (A) and TB (D) would cause space occupying lesions with surrounding oedema. In Tuberous Sclerosis (D) the MRI typically shows subependymal calcifications and hypointense white matter lesions or tubers. Neurofibromatosis (E) would cause gliomas or acoustic neuromas which would appear as space occupying lesions.

Answer 130

``` A. Admit for monitoring of liver function and Child and Adolescent Mental Health Services (CAMHS) assessment ``` This girl needs to be assessed properly for risk, the team to do that is CAMHS. As she presented after the window of intervention she needs to have her LFTs monitored also (A). Discharging her as all the other options imply is the wrong choice as these feelings may resurface later and lead to a repat of this self harm, she needs a proper assesment. There isn't really a reason here to involve the social services (C) It's really not an A&E call to start an antidepressant (D) Parvolex (E) reverses the toxicity of paracetemol overdose, but is ineffective after 15 hours.

Answer 131

A. Slow-relaxing Achilles tendon reflex Slow relaxing reflexes are a sign of illnesses such as hypothyroidism or aLMN lesion such as Guillain-Barre syndrome. The rest are all features of an UMN lesion.

Answer 132

D. Bulging anterior fontanelle Sly question really, a buldging fontanelle indicates an increased amount of fluid in the skull, but that increased volume has been compensated for by the buldging fontanelle, so there is no increase in ICP. Essentially the prescence of the fontanelles removes one of the assumptions of the Munroe-Kellie hypothesis.

Answer 133

D. Cerebral infarction The presentation of unilateral weakness and collapse in a sickle cell patient should raise the alarm for a stroke (D). She has not complained of any pain in the leg so this makes osteomylitis (E) and a painful crisis (A) unlikely. Sickle cell patients who contract B19 (B) are at a risk of developing an aplastic crisis (C) which would lead to infections, bleeding and severe anaemia, but none of that tallys with the clinical picture here.

Answer 134

B. Refer to a community paediatrician This child has diplegic cerebal palsy and is going to need a coordinated care package, it certainly wouldn't be appropriate to fob him off (A). He will likely need all the support outlined in (C), (D) and (E) as well as involvement of orthopaedics andpotentially social services for grants and support for adaptation of the home. Due to the complex nature of the case, a community paediatrician (B) is best placed to coordiante this package of support.

Answer 135

C. Somatization disorder The poor kid is having a terrible time and this is manifesting as non specific abdominal pain and headache. This is a somatization disorder (C) which encompasses; abdominal migraine, functional, IBS, non-organic pain, and reccurent abdominal pain. This is suported by teh distinct psychological triggers here. Crohn's (A) would normally present in an older child (but not always) and would have a presentation of diarrhoea +- blood, failure to thrive, and there are often oral and cutaneous manifestations. there is often a family history. A brain tumour (B) would have neurological signs and would have a more headache predominant history. Gastric cancer (D) is a extremely unlikely diagnosis in a 6 year old. But it would have features such as por appetite and weight loss also. Coeliac (E) presents classically with abdominal distention, diarrhoea and failure to thrive.

Answer 136

A. Sodium valproate – aplastic anaemia Side effects of valporate include; increased appetite, weight gain, hair loss, and liver failure.

Answer 137

B. Tuberculous meningitis Weight loss, night sweats, Somalia, father with a cough... TB should be very high on your list of differentials. Given the presentation of a headache over a month duration, the confusion and the above, TB meningitis (B) needs to be investigated as a priority. The lack of cough, sputum and haemoptosis or any respiratory symptoms makes pulmonary TB less likely. Regardless the pulmonary manifestations of TB (C) are much less immediately life threatening. A brain tumour (A) is unlikely given that she is neurologically intact, and it doesn;t explain the other symptoms here. A migraine (D) wouldn't cause night sweats and weight loss. HIV (E) is a common co-infection with TB, there are cerebral manifestations of HIV, but these tend to be late stage and dementia type. This patient needs an LP (assuming no signs of raised ICP) and a chest xray in case of pulmonary involvement.

Answer 138

D. Tuberous sclerosis Ash leaf macules are a skin manifestation of tuberous sclerosis (D) and these are typical MRI findings. Neurofibromatosis (A)(B) does cause seizures, but they are much rarer and do not have findings on MRI. The classic cutaneous finding in these conditions is of 'cafe au lait' spots. West's syndrome (C) is a syndrome of infantile spasms and developmental regression, it can be caused by tuberous sclerosis. It isn't the best answer as there are clear diagnostic signs of Tuberous sclerosis. Tay-Sachs (E) is an autosomal reccessive deficiency of hexosaminidase A, it presents with seizures, developmental regression, deafness, progressive loss of motor function and increased tone, it is most often found in Ashkenazi Jewish populations.

Answer 139

A. Sturge–Weber syndrome Sturge-Weber is a manifestation of a port wine stain (Flat haemangioma), any such marks in the hairline or trigeminal area need an MRI to check for cranial involvement as they are at risk of epilepsy. Tuberous Sclerosis (B) causes spasms in infancy that are brief tonic movements. Neurofibromatosis (C),(E) rarely causes causes seizures, it is also associated with distinctive 'cafe au lait' spots on the skin. Meningitis (D) that has progressed far enough to cause seizures would leave the child profoundly unwell, with signs of meningsm and systemic shock.

Paediatrics Flashcards

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