Q bank pediatric .pdf

must know If you Imp could be fo  Contents Preface vii Acknowledgements vii 1. The chil...

must know If you Imp could be fo  Contents Preface vii Acknowledgements vii 1. The child in society 1 2. History and examination 3 3. Normal child development, hearing and vision 9 4. Developmental problems and the child with special needs 13 5. Care of the sick child and young person 21 6. Paediatric emergencies 26 7. Accidents and poisoning 33 8. Child protection 40 9. Genetics 45 10. Perinatal medicine 56 11. Neonatal medicine 63 12. Growth and puberty 70 13. Nutrition 74 14. Gastroenterology 78 15. Infection and immunity 85 16. Allergy 93 17. Respiratory disorders 95 18. Cardiac disorders 104 19. Kidney and urinary tract disorders 110 20. Genital disorders 117 21. Liver disorders 120 22. Malignant disease 124 23. Haematological disorders 131 24. Child and adolescent mental health 138 25. Dermatological disorders 142 26. Diabetes and endocrinology 150 27. Inborn errors of metabolism 157 28. Musculoskeletal disorders 159 29. Neurological disorders 168 30. Adolescent medicine 177 31. Global child health 180 Index 182  4 Developmental problems and the child with special needs Select one answer only. Questions: Single Best Answer A. 0–12 months 4.1 B. 12–24 months Jonathan is 4 years old and lives in a small village C. 2–4 years in southern England. He attends a paediatric D. 4–8 years outpatient clinic with his grandmother who is his E. Above 8 years legal guardian. She is concerned that he only seems to like to play with his toy train and insists 4.4 on watching the same DVD every night before Fortuna is an 8-month-old black African girl who he goes to bed. He attends nursery where he was born at term. She is seen in the paediatric plays with the toys but not with other children. outpatient department. She can roll over. She His behaviour can be very difficult to manage at does not crawl. She can say ‘dada’, but says it to times. He does not say any words, whereas the everyone not just her father. She reaches out and grandmother’s children were speaking in grasps objects with her left hand but not with sentences at his age. On examination you notice her right, and puts objects in her mouth. She he does not make eye contact with you and smiles, but is not able to wave bye-bye. pushes his toy train back and forth on the floor. Which aspect of her development is of most The rest of his examination is normal. concern? What is the most likely diagnosis? Select one answer only. Select one answer only. A. Does not wave bye-bye A. Asperger syndrome B. Inability to crawl B. Attention deficit hyperactivity disorder C. Inability to use sounds discriminately to C. Autism spectrum disorder parents D. Developmental coordination disorder (also D. Left-hand preference known as dyspraxia) E. None of the above E. Expressive language disorder 4.5 4.2 Gloria is a 19-month-old girl who presents to you At what age does autism spectrum disorder in primary care. Her health visitor is concerned usually become evident? because she is still only babbling and says no distinct words. She is able to walk, scribbles with Select one answer only. crayons and feeds herself with a spoon. A. 0–12 months What is the most appropriate first action? B. 12–24 months C. 2–4 years Select one answer only. D. 4–8 years A. Hearing test E. Above 8 years B. Assessment by a team specializing in autism spectrum disorders 4.3 C. Reassure the health visitor At what age would you expect the clinical D. Refer to an ear, nose and throat surgeon features of spastic bilateral cerebral palsy to E. Refer to a paediatrician for a full become evident? developmental assessment  D. 4–8 years Answers: Single Best Answer Only very subtle problems will emerge in early school years. 4.1 4 A. Asperger syndrome Children with Asperger syndrome have similar E. Above 8 years Unusual. Cerebral palsy is the result of a fixed insult usually in early life. but less severe social impairments and near- normal language development. 4.4 Developmental problems and the child with special needs B. Attention deficit hyperactivity disorder A. Does not wave bye-bye Attention deficit hyperactivity disorder also Usually this skill develops at about 1 year. presents with difficult behaviour but there is a B. Inability to crawl triad of attention deficit, hyperactivity and Children begin to crawl at around 8 months but impulsivity. this would not be a worrying sign at this stage. C. Autism spectrum disorder C. Inability to use sounds discriminately to Correct. Autism is a triad of impaired social parents interaction, speech and language disorder, and Functional expressive language begins at about ritualistic and repetitive behaviour. 1 year. D. Developmental co-ordination disorder (also D. Left-hand preference known as dyspraxia) Correct. Fortuna has developed a preference for There are no signs of developmental using her left hand at 8 months. Development of co-ordination disorder reported. hand preference before 1 year of age is E. Expressive language disorder abnormal. Here language alone is affected. E. None of the above Although examination technique suggests that 4.2 this is frequently the correct option, it is not in A. 0–12 months this case. Functional language has not developed yet. 4.5 B. 12–24 months A. Hearing test Concerns may emerge at this stage but Correct. Speech delay can be due to hearing problems are less obvious and overdiagnosis is a impairment and this should be assessed first problem. prior to referring her to a specialist. C. 2–4 years B. Assessment by a team specializing in autism Correct. Autism spectrum disorder spectrum disorders usually presents at this age because this Whilst autism is typified by expressive language is when language and social skills rapidly difficulties this is only part of the problem. develop. C. Reassure the health visitor D. 4–8 years The problem may resolve spontaneously but It is unusual to get to school before problems further action is required if no clear words have are noticed but this does occasionally emerged by 18 months. happen. D. Refer to an ear, nose and throat surgeon E. Above 8 years Grommets for conductive hearing loss might be Minor symptoms and conditions such as the solution but it would be important to check Asperger syndrome may present later. hearing first. 4.3 E. Refer to a paediatrician for a full A. 0–12 months developmental assessment Correct. Cerebral palsy most often presents The service would be impossibly busy if all during this time when acquisition of motor skills children with speech delay at this age were occurs most rapidly. immediately referred. B. 12–24 months 4.6 As the child gets older, the increased tone A. Mild conductive hearing loss in the right becomes more evident. ear Correct. The audiogram shows mild conductive C. 2–4 years hearing loss in the right ear. It is mild at 25– Most children with cerebral palsy have presented 39 dB hearing loss and conductive as high- 18 prior to this but very mild hemiplegia can be frequency hearing is relatively preserved and missed. bone conduction (same for both ears) is normal.  6 Paediatric emergencies Where is the most appropriate position Questions: Single Best Answer on the chest (Fig. 6.1) to do cardiac compressions? 6.1 The paediatric team is resuscitating a 3-month- Select one answer only. old boy who is in pulseless electrical activity. He was discovered to be blue and lifeless when his A. A parents went to wake him in the morning. The B. B airway has been secured and despite bag valve C. C mask ventilation the child remains blue. Cardiac D. None of the above compressions are given. E. All of the above A B C Figure 6.1 6.2 You are in the Acute Assessment Unit and see David, a 15-month-old boy, who has a fever of 38.5° C. He has had a runny nose, cough and a fever for 3 days. Since this morning he has slept and has been difficult to wake. His heart rate is raised. He has a rash (Fig. 6.2) scattered over his legs which does not disappear with pressure. Which of the following is the most likely diagnosis? Select one answer only. Figure 6.2 A. Acute lymphoblastic leukaemia B. Henoch–Schönlein purpura C. D. E. Immune thrombocytopenia Non-accidental injury Septicaemia At 6.3 D. Remove wet clothing/towels and dry the A 3-year-old boy who is unconscious arrives in baby vigorously the Emergency Department. You manage his E. Stimulate the baby and shout for help airway, breathing and circulation. His blood glucose is normal. On examination you note his pupils are as in Fig. 6.3. His temperature and 6.6 other vital signs are otherwise normal. Mohammed, aged 8 months, has been vomiting and off his feeds for 2 days. Initially, Paediatric emergencies he had episodes of crying uncontrollably, drawing his legs up into his abdomen as if in pain, and appeared fractious. His mother gave him some oral rehydration solution, but his vomiting continued and he has become lethargic. On admission to hospital he is in shock. Figure 6.3 What is the most likely diagnosis? Select one answer only. A. Gastroenteritis What is the most likely cause? B. Intussusception Select one answer only. C. Malrotation and volvulus D. Meckel diverticulum A. Third nerve lesion E. Strangulated hernia B. Severe hypoxia C. Hypothermia D. Tentorial herniation 6.7 E. Opiate poisoning Mohammed, aged 8 months, presented with the clinical scenario described in question 6.7. He 6.4 weighs 8 kg. He needs a bolus of normal saline You are called to see a 3-year-old boy with a 0.9% to treat his shock. high fever. The nurse is worried that he is very sleepy. As you walk into the resuscitation room What volume of fluid would you give initially? he makes no spontaneous response. You try Select one answer only. calling his name but he makes no response. On stimulation, his eyes open, he cries and he raises A. 40 ml his hand and pushes your hand away. B. 160 ml C. 320 ml What is this child’s Glasgow Coma Score (GCS)? D. 680 ml Select one answer only. E. 800 ml A. 8 B. 9 6.8 C. 10 Mohammed, aged 8 months, has presented with D. 11 the clinical scenario described in Questions 6.6 E. 12 and 6.7. He has received the fluid bolus of normal saline 0.9%, which has improved his 6.5 condition. From his presentation you suspect he Ryan, aged 10 months, is rushed to the children’s is 10% dehydrated. You receive his laboratory emergency department after being found results, which reveal a plasma sodium of submerged in the bath. His mother runs 138 mmol/L (within the normal range). His screaming into the department saying ‘Help my continuing fluid loss from vomiting is small and baby, please’. can be ignored. Which is the next most appropriate step? What is Mohammed’s total fluid requirement for the initial 24 hours? He weighs 8 kg. Select one answer only. Select one answer only. A. Commence chest compressions in a ratio of 15 : 2 A. 160 ml B. If the child is not breathing, commence bag B. 320 ml and mask ventilation C. 800 ml C. Place the child onto the examination couch D. 880 ml 27 and put his head into the neutral position E. 1600 ml  6.9 A. Feet to foot of cot You are called to the resuscitation room where B. Keeping baby in parent’s room until 6 there is a 6-year-old child who has arrived by months of age ambulance. The child has been having a C. Keeping room cool to prevent 6 generalized seizure for 15 minutes. The ambulance crew gave a dose of buccal overheating D. Parents not smoking in the same room as midazolam 5 minutes ago. The emergency infant doctor has maintained the airway and has E. Supine sleeping Paediatric emergencies applied oxygen. His capillary refill time is less than 2 seconds and his heart rate 120 beats/min. What is the next most appropriate management Questions: Extended Matching step? 6.13 Select one answer only. For each of the following patients seen in the A. Administer further anticonvulsant emergency department select the most B. Check blood glucose level appropriate next step in the management C. D. Gain intravenous access Request senior review t plan from the following list (A–L). Each option may be used once, more than once, or not at all. E. Start bag and valve mask ventilation A. Airway opening manoeuvres 6.10 B. Bag and mask ventilation Seb, a 2-year-old boy, was at his cousin’s C. Check blood glucose birthday party. His mother noticed that he has D. Check conscious level [alert, voice, pain, suddenly developed a widespread urticarial rash unresponsive (AVPU)] and has also become flushed in the face. His vital E. Check pupils signs are normal and he has no respiratory F. Commence cardiac compressions using compromise. both hands, one hand on top of the other Which medication would you give? G. Commence cardiac compressions using the Select one answer only. encircling method H. Commence cardiac compressions using one A. Intramuscular adrenaline hand on the sternum B. Intramuscular antihistamine I. High-flow oxygen therapy C. Intravenous hydrocortisone J. Intravenous access D. Oral antihistamine K. Intravenous fluid E. Oral corticosteroid L. Secondary survey 6.11 6.13.1 Jenny, a 3-year-old girl, was at a village fete. She Nathaniel, a 4-year-old boy, is brought to suddenly developed swollen cheeks and lips and hospital with shortness of breath. He is able to a widespread urticarial rash. She is rushed to the talk but has oxygen saturation of 90%. His nearby general practice surgery, where it is capillary refill time is less than 2 seconds. noted that her breathing is very noisy. She is 6.13.2 distressed and frightened. On auscultation she Kelsey, a 2-year-old girl, is found unconscious has widespread wheeze. in the garden. When she is bought into the Which medication would you give first? resuscitation room she is gasping and moaning. A. Intramuscular adrenaline E. Intramuscular antihistamine 6.13.3 C. Intravenous hydrocortisone Ahmed, aged 2 months, is found by his D. Oral antihistamine mother to be pale and floppy in his cot. The B. Oral corticosteroid paramedics are giving bag and valve mask ventilation when he arrives in the resuscitation 6.12 room and his chest is moving well. His heart rate There has been a dramatic decline in the is 40 beats/min. incidence of sudden infant death syndrome in 6.13.4 the UK. Daniel, age 10 years, has diabetes mellitus Which of the following is the single and has been playing football at his friend’s 28 most important factor responsible for this house. He has been brought to the decline? emergency department as he has become confused and is sweaty. He walks into the receiving high-flow oxygen, her breathing is department. regular, and the cardiac monitor shows a heart rate of 100 beats/min. She is unresponsive to 6.13.5 painful stimuli, as she does not flinch when her Aisha, a 3-year-old girl, is bought to hospital by blood glucose is checked. the paramedics as she has had a seizure. She is Paediatric emergencies 29  pushing a hand away suggests localization. Answers: Single Best Answer Remember, the lowest possible score in each domain is 1 (rather than 0). 6.1 B. 9 6 B. B Correct. In infants the heart is lower in relation Correct. The Glasgow Coma Scale is made up of three parts. Best motor response (a score of 1–6 is to the external landmarks than in older children or adults. The area of compression possible); Best verbal response (a score of 1–5 is Paediatric emergencies over the sternum should be one finger possible) and Best eye opening (1–4 is possible). breadth below an imaginary line between Here the child scores 5 for best motor response the nipples. (localizes pain) and 2 each for best verbal and best eye response. 6.2 A. Acute lymphoblastic leukaemia C. 10 This is a short history of the child being unwell. The verbal score here would have been higher if In acute lymphoblastic leukaemia you would the child had responded with vocal sounds or expect a longer history and other characteristic words and for eye opening if he had responded clinical features. to sounds rather than pain. B. Henoch–Schönlein purpura D. 11 The purpuric rash is localized to the legs and Remember that there is a separate scoring buttocks, Henoch–Schönlein purpura is system for children under 4 years of age. associated with abdominal pain and joint pain E. 12 but not with fever and being severely ill. This child is only responsive to pain. Using the C. Immune thrombocytopenia AVPU (alert, voice, pain, unresponsive) scoring With immune thrombocytopenia the children are system, a score of P usually corresponds to a GCS usually well. of 8 or 9. D. Non-accidental injury 6.5 Non-accidental injury is not suggested by this A. Commence chest compressions in a ratio of acute febrile illness. 15 : 2 Chest compressions may be required but this is E. Septicaemia further down the resuscitation algorithm. Correct. He has a purpuric rash, with lesions of variable size. In a febrile child, meningococcal B. If the child is not breathing, commence bag septicaemia is most likely. This is not invariably and mask ventilation accompanied by meningitis. This is done after stimulating the child, shouting for help and opening the airway. 6.3 A. Third nerve lesion C. Place the child onto the examination couch Third nerve lesions and tentorial herniation and put his head into the neutral position would cause a unilaterally dilated pupil. This will need to be done, but is not the first step. B. Severe hypoxia Severe hypoxia would cause dilated pupils. D. Remove wet clothing/towels and dry the baby vigorously C. Hypothermia Drying is an essential first step in a newborn With hypothermia the child’s temperature would infant but not the first thing to do here. be low and it causes dilated pupils. E. Stimulate the baby and shout for help D. Tentorial herniation Correct. All resuscitation algorithms ensure that Third nerve lesions and tentorial herniation the patient is assessed in a sequential manner, would cause a unilaterally dilated pupil. adopting an Airway, Breathing and Circulation E. Opiate poisoning approach. The paediatric life support algorithm Correct. Bilateral, pinpoint pupils (as in Fig. 6.3) states that you: 1. Check safety (not strictly with coma can be caused by a pontine lesion or necessary within hospital), stimulate and shout opiate poisoning. Opiate poisoning may occur in for help. Calling for help early on in these homes with substance abusers or adults on situations is paramount as you need many methadone. people for resuscitation. 6.4 6.6 A. 8 A. Gastroenteritis 30 The Glasgow Coma Scale is shown in Table 6.1 Less likely, because episodes of crying below. This child is scoring more than 8 as uncontrollably with drawing of legs up into his Table 6.1 Glasgow Coma Scale, incorporating Children’s Coma Scale Glasgow Coma Scale Children’s Coma Scale (4–15 years) (95%) children in the UK Eating disorders can co-exist with diabetes have type 1 diabetes mellitus which occurs as a mellitus but he does not have the clinical result of autoimmune destruction of pancreatic features of anorexia nervosa. β-cells by T cells. B. Depression 26.2 Depression is also important to consider, but in A. Call an ambulance this case, it is not the most likely cause as he is This will be required if he does not respond to continuing to maintain good control of his initial treatment. The holiday camp should be diabetes and is not expressing negative feelings. prepared for treatment of hypoglycaemia in a C. Growth hormone deficiency known diabetic. Not an autoimmune problem. Would not explain B. Check blood glucose his lethargy. He has the clinical features of hypoglycaemia D. Hypothyroidism and immediate treatment is indicated. Correct. Children with type 1 diabetes mellitus are at increased risk of thyroid disease and C. Give a glucose drink should be screened annually. His static height This is appropriate if he can take fluids, but he is and his lethargy would support this diagnosis. unresponsive. He is also at increased risk of coeliac disease D. Give buccal glucose gel and this should also be considered but is less Correct. He is hypoglycaemic, brought on by likely as his appetite is good and his weight is exercise. Glucose is absorbed quickly from satsfactory. buccal glucose gel, and he should rapidly E. Inflammatory bowel disease wake up. He will need to have a carbohydrate- Blood and mucus in the stool would be expected containing drink and snack to maintain his with ulcerative colitis and anorexia and malaise blood glucose. and abnormal full blood count and C-reactive E. Give insulin protein would be expected with Crohn’s disease. His blood glucose needs to be raised rather than lowered. 26.5 A. High TSH and high T4 levels Central cause for hyperthyroidism would be very 26.3 rare. A. During the summer holidays she took less exercise B. High TSH and low T4 levels 154 She would be expected to have had more Suggests that thyroid gland is not working. exercise over the summer holidays. Would result in hypothyroidism. C. Low TSH and high T4 levels E. Long-term use of inhaled corticosteroids Correct. Hyperthyroidism usually results from She has Cushing syndrome. Inhaled steroids autoimmune thyroiditis (Graves disease) secondary are unlikely to cause this because the doses to the production of thyroid-stimulating absorbed systemically are low. immunoglobulins (TSIs). The levels of thyroxine (T4) 26.8 and/or tri-iodothyronine (T3) are elevated and TSH A. Hypernatraemia and hyperkalaemia with low levels are suppressed to very low levels. cortisol Diabetes and endocrinology D. Low TSH and Low T4 levels The laboratory findings in Addison disease are Central hypothyroidism. low sodium. E. Normal TSH and high T4 levels B. Hypernatraemia and hypokalaemia with high Very early change. Would soon be followed by a cortisol fall in TSH. Wrong way around. 26.6 C. Hyponatraemia and hyperkalaemia with high A. Intravenous glucose alone for 24 hours cortisol No. The child is having a salt-losing crisis. The cortisol level would be low. D. Hyponatraemia and hypokalaemia with low B. Intravenous saline, glucose and cortisol hydrocortisone The potassium is typically high. Correct. Lara is having an adrenal crisis. This requires urgent treatment with intravenous E. Hyponatraemia and hyperkalaemia with saline, glucose and hydrocortisone. Long-term low cortisol treatment is with glucocorticoid and Correct. In Addison disease, there is mineralocorticoid replacement and oral sodium hyponatraemia, hyperkalaemia and chloride may be needed during infancy. The hypoglycaemia. The plasma cortisol is low and dose of glucocorticoid needs to be increased at the plasma ACTH (adrenocorticotropic hormone) times of illness. concentration is high. See Box 26.10 in Illustrated Textbook of Paediatrcs for more details. C. Oral rehydration Always helpful but in this case not sufficient 26.9 treatment. A. Acute kidney injury Hyponatraemia may be a feature of acute kidney D. Oral rehydration and oral glucocorticoid injury, but this child has a normal plasma urea This child is seriously ill. There isn’t time to lose. and creatinine. E. Oral rehydration, sodium supplements and B. Congenital adrenal hyperplasia oral glucocorticoid Correct. The combination of marked All the correct things are being replaced here hyponatraemia, hyperkalaemia and hypoglycaemia but this is an emergency and it requires more are suggestive of glucocorticoid deficiency, as seen rapid correction. in congenital adrenal hyperplasia. 26.7 C. Congenital adrenal hypoplasia A. Corticosteroid cream for severe eczema Much rarer than congenital adrenal hyperplasia Topical steroids do not cause this because the but also can result in hyponatremia, doses absorbed systemically are low. hyperkalaemia and hypoglycaemia. There are X-linked (early onset) and autosomal recessive B. Daily oral prednisolone therapy for the (variable onset) forms. last 6 months Correct. Children requiring high dose oral D. Cushing syndrome corticosteroid therapy, e.g. for Crohn’s disease or An excess of glucocorticoids, as seen in Cushing nephrotic syndrome, may develop the features syndrome, causes an intolerance to of Cushing syndrome. Minimized by decreasing carbohydrates (hyperglycaemia), rather than the the dose as soon as possible. hypoglycaemia seen in this child. C. Ectopic ACTH (adrenocorticotropic hormone)- E. Gastroenteritis producing tumour Gastroenteritis can lead to hyponatraemic Extremely rare in children. However, must be dehydration, but the urea would be raised and considered if there is no history of steroid use. the potassium normal. D. High-dose corticosteroid therapy for lung 26.10 disease when she was a premature baby A. You are unable to tell if the baby is male or A short course of steroids in the premature female, and tell the parents it is likely to be a period, even if high-dose, would not cause mixture of both sexes, i.e. ovotesticular disorder 155 features of Cushing syndrome at this age. of sex development (DSD – or hermaphroditism)  This is extremely rare. It is usually possible to D. A markedly raised plasma assign the infant a sex after assessment of 17α-hydroxyprogesterone phenotype, sex hormones and ultrasound scans Most children with congenital adrenal of internal structures and gonads are performed. hyperplasia have 21-hydroxylase deficiency (see 26 B. You are unable to tell right now and a detailed assessment of the baby including Fig. 26.11 in Illustrated Textbook of Paediatrics). The diagnosis is made by finding markedly raised levels of the metabolic precursor 17 scans and blood tests will be needed before a α-hydroxy-progesterone. Diabetes and endocrinology specialist can tell them Correct. A detailed assessment by medical, E. A raised blood glucose surgical and psychological specialists needs to It would typically be low. be performed followed by a full discussion with the parents before the infant is assigned a sex. Answers: Extended Matching C. You are unable to tell right now but will be able to assign a sex as soon as you get the Answer 26.12.1 baby’s chromosomes back C. Fluid resuscitation with normal saline Sexuality is complex, and depends on more than (0.9% sodium chloride) the baby’s phenotype, chromosomes and Julie requires immediate fluid resuscitation hormone levels. as she has diabetic ketoacidosis and is in D. You think it is likely to be a girl so tell them shock. See Fig. 26.7a, Illustrated Textbook of the baby should be named as a female on the Paediatrics. birth certificate pending the results Answer 26.12.2 If there is abnormal sexual differentiation at K. Subcutaneous insulin birth, do not guess the infant’s gender. A Start insulin subcutaneously. Although this is detailed assessment needs to be performed. a new diagnosis of diabetes of mellitus, Jon is E. You think it is likely to be a boy so tell them well so it is safe to start subcutaneous insulin. the child must be named as a male on the birth He also requires education about diabetes, certificate pending the results changes to diet and lifestyle, training on how If there is abnormal sexual differentiation at to administer the insulin, and what to do in an birth, do not guess the infant’s gender. A emergency. detailed assessment needs to be performed. Answer 26.12.3 26.11 J. Oral glucose drink A. A low testosterone Harriet is hypoglycaemic and requires some In congenital adrenal hyperplasia the sugar to increase her blood glucose. The testosterone would be raised. easiest way to achieve this is with a non-diet sugary drink. She will require complex B. A markedly lowered plasma 17 carbohydrate snacks to maintain her blood α–hydroxyprogesterone glucose. In most cases, the 17 α–hydroxyprogesterone is markedly raised. You might see this in the much Answer 26.12.4 less common congenital adrenal hypoplasia H. Intravenous infusion of normal saline though. (0.9% sodium chloride) Intravenous 0.9% sodium chloride solution is C. A markedly raised cortisol level required, as she continues to vomit and has In congenital adrenal hyperplasia the cortisol clinical dehydration. She does not require fluid level would be low. resuscitation as she is not shocked. 156  27 Inborn errors of metabolism What is the most likely diagnosis? Questions: Single Best Answer Select one answer only. 27.1 A. Congenital adrenal hyperplasia A newborn baby is diagnosed with a B. Familial hypercholesterolaemia metabolic condition at 10 days of age, after C. Glycogen storage disorder she presented with vomiting, jaundice, D. Phenylketonuria hepatomegaly and liver failure. She was E. Urea cycle defect subsequently put on a lactose-free and galactose-free diet. 27.3 Which enzyme is most likely to be deficient? Terry was born at term and was well at birth. On day 2 of life, he became severely unwell Select one answer only. with poor feeding, vomiting, acidosis and A. Galactokinase encephalopathy. Sepsis and hypoglycaemia were B. Galactose-1-phosphate uridyl excluded, and an inborn error of metabolism is transferase thought to be the cause as the blood ammonia C. Glucose-6-phosphatase level is extremely high. Which of the following is D. Glucose-6- phosphate dehydrogenase the most likely cause? E. Phosphoglucomutase Select one answer only. A. Fatty acid oxidation defect 27.2 B. Glycogen storage disease Samina is 12-years-old and has hepatomegaly. C. MCAD (Medium-chain acyl-CoA She is short for her age, suffers from dehydrogenase deficiency) hypoglycaemia and needs an overnight feed via D. Mucopolysaccharidosis a nasogastric tube. E. Urea cycle defect  hypoglycaemia as a prominent feature and the Answers: Single Best Answer blood ammonia level may be raised but not to extremely high levels. May also present as 27.1 an acute life-threatening episode (ALTE) or 27 B. Galactose-1-phosphate uridyl transferase near-miss sudden infant death syndrome (SIDS). B. Glycogen storage disease Correct. The baby has been put on a diet that excludes galactose. The enzyme defect is Enzyme defects prevent glycogen synthesis or Inborn errors of metabolism therefore likely to be one involving galactose. breakdown in liver and/or muscle. Liver forms This infant has galactosaemia, which is a rare present with severe hypoglycaemia and disorder resulting from deficiency of the enzyme hepatomegaly; muscle forms with exercise galactose-1-phosphate uridyl transferase, which intolerance. is essential for galactose metabolism. When C. MCAD (Medium-chain acyl-CoA lactose-containing milk feeds such as breast dehydrogenase deficiency) milk or infant formula are introduced, affected Detected on neonatal biochemical screening, or infants feed poorly, vomit, develop jaundice, presents with acute encephalopathy and hepatomegaly and hepatic failure. Management hypoglycaemia on fasting, or as an acute is with a lactose-free and galactose-free diet life-threatening episode (ALTE) or near-miss for life. sudden infant death syndrome (SIDS). Acute 27.2 illness may sometimes develop before screening C. Glycogen storage disorder results are known. Correct. She has clinical features of the hepatic D. Mucopolysaccharidosis form of glycogen storage disorder, where After a period of normal development enzyme defects prevent the mobilization of development regresses, facies become coarse glucose from glycogen and gluconeogenesis, and organomegaly develops. Skeletal resulting in abnormal storage of glycogen abnormalities are relatively common, particularly in liver. of the ribs and vertebrae. 27.3 E. Urea cycle defect A. Fatty acid oxidation defect Correct. Urea cycle or organic acid disorders These disorders, e.g. carnitine transporter may present with these clinical features. The deficiency, may present in an infant or older marked hyperammonaemia is characteristic of child with an illness similar to this but with urea cycle defects. 158  29 Neurological disorders 4-day history of fever, lethargy, vomiting and Questions: Single Best Answer abdominal pain. She normally opens her bowels twice a week and does intermittent urinary 29.1 catheterization three times a day with the help of Annette is a 15-year-old girl who complains of her mother but despite this she is dribbling urine. worsening daily occipital headaches. They occur mainly in the mornings and sometimes wake her What is the most likely cause of her new from sleep. Her mother says she is doing less symptoms. well at school than previously and has become a Select one answer only. difficult and grumpy teenager. She sometimes vomits in the mornings. She has no other A. Constipation medical problems though she is on the oral B. Hydrocephalus contraceptive pill. C. Hypertension and renal failure D. Tethering of the spinal cord What is the most likely diagnosis? E. Urinary tract infection Select one answer only. 29.4 A. Idiopathic intracranial hypertension Angelo, a 15-month-old boy, had been unwell B. Migraine with a runny nose and cough for a day when his C. Medication side-effect father brings him to the Emergency Department. D. Tension headache At lunch he suddenly became stiff, his eyes E. Raised intracranial pressure due to a rolled upwards and both his arms and legs space-occupying lesion started jerking for 2 minutes. He felt very hot at the time. When examined 2 hours later, he has 29.2 recovered fully. This is the first time this has Gerald is a 10-year-old boy. He is seen in the happened. He has a normal neurological special school clinic with his mother, who is just examination and is acquiring his developmental recovering from cataract surgery. He has milestones normally. He has no other medical moderate learning difficulties and is teased problems. The triage nurse performed a blood because of his marked facial weakness. He is glucose test, which indicated a glucose level of unable to walk long distances. His mother says 4.2 mmol/L (within normal range). that he struggles to release things once he grabs them. He has no other medical problems. He has What would be the most appropriate not had any investigations performed. Select the most useful diagnostic test from the list. investigation? A. CT scan of the brain me B. ECG Select one answer only. C. EEG (electroencephalography) A. DNA testing for trinucleotide repeat D. No investigation required expansion E. Oral glucose tolerance test B. Electromyography (EMG) C. Muscle biopsy 29.5 D. Nerve conduction studies Pamela is an 8-year-old girl with recurrent E. Serum creatine kinase seizures. She has three or four seizures a month, where she lets out a cry, her arms and legs 29.3 become stiff, her eyes roll upwards and then she Olive is a 5-year-old girl who had a jerks her arms and legs. This lasts about 3 myelomeningocele repaired shortly after birth. minutes. Afterwards she sleeps for 2 hours and is She uses a wheelchair for mobility. She has a then back to normal. She is doing well at school but is sometimes missing school because of her move her arm, although she has some residual seizures. She is currently not on any medication weakness of her mouth. She has no significant and has no other medical problems. medical history except some episodes of abdominal pain as a younger child. Her mother What would be the best intervention for this child? tells you that she also suffers from headaches. Select one answer only. What is the most likely diagnosis? A. Anti-epileptic drug therapy Select one answer only. Neurological disorders B. Home schooling C. Ketogenic diet A. Idiopathic intracranial hypertension D. No intervention required B. Migraine E. Vagal nerve stimulation C. Raised intracranial pressure due to a space-occupying lesion 29.6 D. Subarachnoid haemorrhage Alan is a 7-month-old male infant who was E. Tension headache preterm, born at 28 weeks’ gestation, birthweight 970 g, and whose family recently 29.8 arrived in this country. He is seen in a paediatric Aparna is a 2-year-old girl of Indian ethnicity clinic because of vomiting. He had been seen who lives in the UK. She presents to her general regularly by a doctor who was treating him for practitioner as she has been unsteady on her gastro-oesophageal reflux. He has always feet for a day, having had diarrhoea during the vomited but this has been getting worse and his previous week. On examination she is afebrile, mother has noticed his eye movements are not has reduced muscle power and tone and no normal. His examination findings can be seen in tendon reflexes can be elicited in her lower Fig. 29.1. limbs. She is referred urgently to the paediatric hospital and 6 hours later she is unable to stand and the tendon reflexes in her upper limbs are now absent. She has no other medical problems and has been fully immunized. What is the most likely diagnosis? Select one answer only. A. Guillain–Barré syndrome B. Myasthenia gravis C. Myotonic dystrophy D. Poliomyelitis E. Spinal muscular atrophy Figure 29.1 (Courtesy of Dr Tony Hulse). 29.9 What is the most likely underlying cause for Jordain is a 7-year-old child born in Yemen who these findings? presents to the children’s outpatient department. Select one answer only. His mother is concerned regarding a number of skin marks, which she has noticed over the last A. Aqueduct stenosis year. She was not initially concerned about them, B. Intraventricular haemorrhage but they are becoming more numerous and C. Meningitis larger in size. She reports that Jordain’s father D. Posterior fossa neoplasm also had similar skin marks before he passed E. Subarachnoid haemorrhage away from ‘cancer’. On examining Jordain you see the skin lesions shown in Fig. 29.2. He also 29.7 has a large number of freckles in his axilla region. Sharon is an 11-year-old girl who has had He has no other medical problems and is not on occasional headaches for the last 3 months. any medications. Today was her first day at secondary school. During maths class she developed her usual What is the most likely diagnosis? throbbing left-sided headache, associated with Select one answer only. nausea. Over the next hour, she lost her temporal vision in her right eye and found she only had A. Ataxia telangiectasia minimal movement in her right arm. The left side B. Friedreich ataxia of her mouth was drooping. Her parents were C. Neurofibromatosis called, who rushed her to hospital. She is now D. Sturge–Weber syndrome 169 feeling much better, has normal vision and can E. Tuberous sclerosis  29.11 Antonia, a 5-year-old girl, is seen by her general practitioner. Her mother and school teacher have noticed she has episodes where 29 she stops her activity for a few seconds, stares blankly ahead and then resumes the activity as if she had never stopped. These episodes happen many times a day. She has no other Neurological disorders medical problems and there is no family history of note. The EEG during an episode is shown in Fig. 29.4. 1 2 3 4 5 6 7 8 9 10 Figure 29.2 (Courtesy of Dr Graham Clayden). 11 12 13 29.10 200 µV 14 Gregor is born at term. It was a normal 1s 15 pregnancy though the mother did not have any 16 antenatal ultrasound examinations as she was against medical procedures. He was born by vaginal delivery. Immediately, the midwife Figure 29.4 (Courtesy of Dr Richard Newton). noticed the lesion shown in Fig. 29.3. Choose the most likely diagnosis. Select one answer only. A. Childhood Rolandic epilepsy (benign epilepsy with centro-temporal spikes) B. Childhood absence epilepsy C. Juvenile myoclonic epilepsy D. Lennox-Gastaut syndrome E. Infantile spasms (West syndrome) 29.12 Figure 29.3 Vijay is a 5-month-old infant who has been seen repeatedlyo by his general practitioner because of Which of the supplements listed would have colic. His mother brings him to the Accident and reduced the risk of this problem if taken by the Emergency department as he is having episodes mother periconceptually? of suddenly throwing his head and arms forward. Select one answer only. These episodes occur in repetitive bursts. His mother thinks they may be something more than A. Folic acid just colic, as he is now not smiling or supporting B. Iron his head as well as he did previously. He was born C. Vitamin A at term by normal vaginal delivery and has no 170 D. Vitamin B12 other medical problems. His EEG is shown in E. Vitamin D Fig. 29.5.  Afterwards she was groggy for a few minutes, 1 but is now back to her usual self. This has not 2 happened before. Her mother is very distressed 3 and now reports feeling faint herself. The triage 4 nurse has performed a blood glucose which 5 indicates a glucose level of 4.1 mmol/L (within 6 normal range). 7 Neurological disorders 8 29.13.2 9 Jennifer, an 11-year-old girl, is brought to the 10 Emergency Department after collapsing at 11 school. Her teacher described her standing in 12 assembly, becoming pale and collapsing to the 13 floor. She had a couple of jerking movements of 100 µV 14 her limbs lasting a few seconds. She returned to 1s 15 normal promptly. Jennifer says that she had not 16 eaten breakfast that morning, and experienced a sensation of feeling hot, a black curtain coming in front of her eyes, sounds becoming distant Figure 29.5 (Courtesy of Dr Richard Newton). and feeling dizzy. The school nurse did a blood glucose, which indicated a glucose level of 3.5 mmol/L (within the normal range). She has Choose the most likely diagnosis. had two episodes similar to this in the past but Select one answer only. has not presented to hospital before. She has no other medical problems. A. Juvenile myoclonic epilepsy B. Lennox-Gastaut syndrome 29.13.3 C. Childhood Rolandic epilepsy (benign Bosco is an active 7-year-old black Caribbean epilepsy with centro-temporal spikes) boy, who was referred to the outpatient D. Childhood absence epilepsy department with a history of collapse. He E. Infantile spasms (West syndrome) collapses during football practice or when he is playing outside with his siblings. This has Questions: Extended Matching happened at least six times in the last 3 months. His mother says that he suddenly becomes pale, 29.13 loses consciousness and then slowly comes For each of the scenarios (A–N) of children who around. He has no medical history of note and have had a funny turn, pick the most likely has never had any investigations. His father died diagnosis from the list. Each answer can be used suddenly at the age of 34 years. once, more than once, or not at all. 29.13.4 A. Benign paroxysmal vertigo Rene is a lively 2-year-old boy who is seen in the B. Blue breath-holding spells (expiratory acute paediatric assessment unit, having had an apnoea syncope) episode of turning blue and collapsing. This is C. Cardiac arrhythmia not the first time that this has happened. He D. Childhood absence epilepsy recovers quickly after these events. During the E. Hypoglycaemia consultation his mother repeatedly gives him F. Intracranial haemorrhage sweets to keep him calm. These episodes only G. Migraine occur when he is crying and this has led to his H. Narcolepsy mother trying to avoid anything that will upset I. Night terrors him. He has no other medical problems. His J. Non-epileptic attack disorder (pseudoseizure) blood glucose today is 4.9 mmol/L. K. Reflex asystolic syncope (reflex anoxic seizure) L. Syncope 29.13.5 M. Tic disorder Dora is an 8-year-old girl who attends the N. Tonic–clonic seizure outpatient department. Her mother is worried 29.13.1 Emily, a normally fit and healthy 3-year-old girl, is because she used to be top of the class, but is not doing as well at school this year. Whilst in clinic, you notice that Dora has an episode where i rushed to the Emergency Department. She had she suddenly stops what she is doing, stares been playing at nursery and had banged her ahead whilst flickering her eyelids for a couple of head against a door. Almost immediately she seconds and then resumes her previous activity went very pale and stiff and had jerking as if nothing had happened. You ask her to blow 171 movements of her arms and legs for 20 seconds. out an imaginary candle, and the same thing  happens again. She is growing normally and is G. Gower’s sign otherwise fit and well. H. Kernig’s sign I. Romberg’s sign 29.14 29.15.1 29 For each scenario below (A–H), choose the most likely diagnosis. Each diagnosis can be used Ahmed is a 5-year-old boy who presents to the outpatient clinic with weakness. His parents once, more than once, or not at all. report that he finds it difficult to climb the stairs at home. This has been becoming Neurological disorders A. Childhood Rolandic epilepsy (benign epilepsy with centro-temporal spikes) progressively worse over the preceding 6–12 B. Childhood absence epilepsy months. He is playing on the carpet with his C. Juvenile myoclonic epilepsy brother when his mother calls him over. He has D. Lennox–Gastaut syndrome to roll from his back onto his front in order to E. Infantile spasms (West syndrome) stand up. 29.14.1 29.15.2 Damasco is a 6-year-old black boy who presents Christopher attends outpatient clinic for his in the paediatric clinic. He has been referred routine follow-up. He is a 3-year-old boy who did because his brother, with whom he shares a not breathe at birth. Following resuscitation, he room, has woken his parents early in the required intensive care for the first 5 days of life. morning on several occasions complaining that He now has increased tone and reflexes in his Damasco is making unusual sounds and drooling right upper and lower limbs. On rubbing a blunt from his mouth. By the time his parents come to instrument up the lateral side of his right foot the room Damasco is jerking his upper and lower there is extension of the greater toe and fanning limbs rhythmically. This lasts for 1–2 minutes. of his toes. Afterwards Damasco complains of a funny 29.15.3 sensation on the left side of his mouth, and then Sayeed is an 8-year-old Pakistani boy who has goes back to sleep. He is doing well at school developed muscle weakness. His mother reports and clinical examination is normal. He has no that he has poor coordination at home and at other medical problems. school. His speech has also recently become 29.14.2 slurred. His problems have come on slowly over Jude is a 14-year-old boy who is on treatment for the last 12–18 months. He has no other medical generalised tonic–clonic and absence seizures. history and is not taking any medications. On He attends a routine clinic appointment examination you notice that he has wasting of complaining of regularly spilling his tea in the or his calves. visit morning because his arm jerks involuntarily. When standing upright with his legs together These jerks are worse if he has stayed up late the and closing his eyes he becomes unsteady and night before. He is doing relatively well at school. starts to sway. 29.14.3 29.15.4 D Andrew is a 5-year-old boy with severe learning Jane is an 11-year-old girl who presents to the difficulties who attends a special school. He is outpatient department. She complains that she seen in his review clinic. His epilepsy is difficult to finds it difficult to play sports such as basketball. control and he is on two different antiepileptic In particular, she finds it difficult to run and drugs. He has several different types of seizures: coordinate her arm movements. She was born at sudden stiffening of his limbs causing him to fall, 32 weeks’ gestation and discharged from the episodes of staring blankly ahead for up to 30 neonatal service at 2 years of age as her seconds before resuming previous activities, and development was normal. Her neurological episodes of his head dropping with a brief loss of examination appears to be normal except when consciousness. He is fed via a gastrostomy and you are examining her gait. On heel walking her has chronic drooling. left arm moves into a flexed position. 29.15 29.15.5 In the following clinical histories (A–I) choose the Paolo is a 7-year-old boy who presents to the sign that is being described. Each finding can be Accident and Emergency department with fever. used once, more than once, or not at all. His mother reports that this has been present for the last 8 hours and that he is sleepy and wants A. Babinski’s sign to sleep in a dark room. He has no other medical B. Brudzinski’s sign history. On examination you note that he is C. Chorea photophobic. Whilst he is lying on the couch you D. Clonus flex his right knee and hip to 90°. On fully 172 E. Dyskinesia extending the knee, he complains of pain and F. Fogs’ sign arches on his back.  D. Nerve conduction studies Answers: Single Best Answer Difficult, costly and painful. 29.1 E. Serum creatine kinase A. Idiopathic intracranial hypertension Serum creatine kinase is helpful in diagnosing Idiopathic intracranial hypertension also presents muscular dystrophies, such as Duchenne. with features of raised intracranial pressure but is less likely to affect her behaviour and school 29.3 Neurological disorders performance, though they can be difficult to A. Constipation differentiate on clinical history alone. The constipation is not a new symptom but does predispose Olive to urinary tract B. Migraine infection. Migraine leads to asymmetrical features and typically the headaches are relieved by sleep. B. Hydrocephalus Hydrocephalus would cause lethargy and C. Medication side-effect vomiting, but not the other symptoms. Analgesia overuse can cause daily headache and is a common cause of chronic daily headache C. Hypertension and renal failure but this is not reported. This must always be This is insidious and often presents as an included in the history. Sometimes parents are incidental finding or with faltering growth. unaware that paracetamol is being taken frequently. D. Tethering of the spinal cord Would not cause fever. D. Tension headache Although these headaches are very common, E. Urinary tract infection they are often at the end of the day. Rarely do Correct. Olive had a myelomeningocele that they wake one from sleep. has caused a neurogenic bladder (she has to use catheterization to maintain continence) E. Raised intracranial pressure due to a and neurogenic bowel dysfunction (she is space-occupying lesion usually constipated). A neurogenic bladder Correct. This girl has raised intracranial pressure predisposes to developing a urinary tract due to a space-occupying lesion. The headaches infection, due to the stagnant urine lying in are worsening, and occur when lying down and the bladder. Her symptoms of fever, abdominal wake her from sleep. Raised intracranial pressure pain, vomiting, and urinary incontinence are is associated with morning vomiting. There is most likely to be due to a urinary tract also behaviour change and worsening infection. educational performance. The VI (abducens) cranial nerve has a long intracranial course and is 29.4 often affected when there is raised pressure, A. CT scan of the brain resulting in a squint with diplopia and inability Persistent signs, particularly asymmetric ones, to abduct the eye beyond the midline. It is a should prompt imaging. false localising sign. Other nerves are affected depending on the site of lesion. B. ECG Why the fever? Cardiac causes usually occur ‘out 29.2 of the blue’ or following a specific trigger: A. DNA testing for trinucleotide repeat exercise (hypertrophic obstructive expansion cardiomyopathy) or shock (ventricular Correct. The most useful diagnostic test here tachycardia). would be DNA testing for trinucleotide repeat expansion of myotonic dystrophy. The clinical C. EEG (electroencephalography) history suggests myotonic dystrophy because Will be ‘abnormal’ in a significant proportion of of his learning difficulties, myotonia, facial normal children. This will lead to significant weakness and limb weakness. It was dominantly ‘overdiagnosis’ of epilepsy. Not indicated here. inherited from his mother, who has cataracts as a result. D. No investigation required Correct. Angelo had a simple febrile seizure, B. Electromyography (EMG) secondary to a respiratory tract infection. A You can test for the myotonia clinically rather febrile seizure is a clinical diagnosis and does not than using electromyography, so DNA testing is require investigation. Indeed, there is no the test most likely to give you the diagnosis. confirmatory test. C. Muscle biopsy E. Oral glucose tolerance test Muscle biopsies are performed when one needs This is not required as the blood glucose is to differentiate between muscle and neuronal normal. It is rarely required in children to 173 pathology. diagnose diabetes.  29.5 this necessitates neuroimaging to exclude a A. Anti-epileptic drug therapy vascular abnormality or structural problem. Correct. This child should be started on an anti-epileptic drug. Pamela has recurrent C. Raised intracranial pressure due to a 29 generalised tonic–clonic seizures which are affecting her quality of life as she is missing space-occupying lesion No red flags. school. D. Subarachnoid haemorrhage A subarachnoid haemorrhage is rare in a child of Neurological disorders B. Home schooling The solution to her missing school is control of this age. Besides, the pain is often occipital and her seizures. the neurological symptoms would not improve over this period. C. Ketogenic diet Ketogenic diets are sometimes used in children E. Tension headache with intractable seizures. A tension headache would be symmetrical, and the pain is not typically throbbing. In tension D. No intervention required headaches there would not be weakness or The seizures are impacting upon schooling and visual disturbance. quality of life. 29.8 E. Vagal nerve stimulation A. Guillain–Barré syndrome Vagal nerve stimulation is used in certain Correct. Guillain–Barré syndrome (post- children with intractable seizures. infectious polyneuropathy). The classical presentation is with ascending weakness. It may 29.6 follow campylobacter gastroenteritis. She must A. Aqueduct stenosis be closely monitored, as a serious complication Possible but in view of prematurity another is respiratory failure. To monitor her respiratory diagnosis is more likely. function, you can ask her to cough (or sing) to B. Intraventricular haemorrhage assess diaphragmatic function and involvement Correct. This child has hydrocephalus, and the of the nerves supplying the chest muscles. most likely underlying cause is intraventricular B. Myasthenia gravis haemorrhage from his prematurity. This results in Myasthenia gravis presents as abnormal muscle impairment of drainage and reabsorption of CSF fatigability, which improves with rest or leading to post-haemorrhagic hydrocephalus. anticholinesterase drugs. It is incredibly rare! The figure shows his large head and sun-setting eyes, which, together with the vomiting, are all C. Myotonic dystrophy clinical features of hydrocephalus. He will also Aparna’s illness is an acute neuropathy. have an increasing head circumference, which will cross centile lines. D. Poliomyelitis Poliomyelitis is a very important differential C. Meningitis diagnosis here, but as the child is immunized There is no fever or clinical features of sepsis or and as polio has been eradicated in the UK it meningitis, which makes an infection unlikely. becomes far less likely. It is on the verge of eradication globally. D. Posterior fossa neoplasm The eyes show features of sun-setting, not a E. Spinal muscular atrophy cranial nerve palsy or squint characteristic of Spinal muscular atrophy is an autosomal posterior fossa neoplasms. The history is recessive group of disorders causing suggestive of post-haemorrhagic hydrocephalus. degeneration of the anterior horn cells, leading to progressive weakness and wasting of skeletal E. Subarachnoid haemorrhage muscles. They are chronic disorders and would Not typical in preterm infants. not present acutely as in this child. 29.7 29.9 A. Idiopathic intracra