Metabolic Medicine

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Work smart Work hard Mock exams Revision advice

Work smart: MRCPCH Part 1 B

Question: 2 of 10 / Overall score: 70%

The findings of K+ = 2.5 mmol/l (3.5-4.9) and HCO3 = 10.0

mmol/l (20-28) are compatible with:

True / False

Hypokalaemia, a decrease in the measured level of

potassium in the serum, may be caused by:

1. Increased loss:

a) Renal: diuretic, Bartter Syndrome, hormonal (Cushing's, hyperaldosteronism, thyrotoxicosis), or renal tubular acidosis. The latter may be proximal (complete bicarbonate loss ± Fanconi's Syndrome), or distal (partial bicarbonate loss). Apart from renal tubular acidosis, all the others are associated with an alkalosis systematically.

b) Extra-renal loss: diarrhoea, laxative or enema abuse, vomiting, biliary drainage, or enterocutaneous fistulae. In addition, is the rare familial hypokalaemic periodic paralysis.

c) Fluid shift: diabetic ketoacidosis. Most of the latter groups are associated with acidosis.

2. Decreased Intake: a) Hypokalaemia can also result from

decreased intake.

Copyright © 2002 Dr Colin Melville

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nmlkj nmlkji Primary hyperaldosteronism Correct

nmlkji nmlkj Renal tubular acidosis Correct

nmlkji nmlkj Urinary diversion into the colon Correct

nmlkj nmlkji Pancreatic fistula Incorrect answer selected

nmlkj nmlkji Respiratory failure Correct

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Nitric oxide:

True / False

Nitric oxide is produced from l-arginine by nitric oxide

synthase and is produced by the vascular endothelium in

response to haemodynamic stress. It produces smooth

muscle relaxation and reduced vascular resistance.

Nitric oxide is a free radical and may be inactivated through

interaction with other oxygen free radicals, e.g. oxidised

LDL.

It causes the production of cGMP as a second messenger.

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nmlkji nmlkj Is inactivated by oxygen free radicals Correct

nmlkj nmlkji Is increased by cyclic AMP activation. Correct

nmlkji nmlkj Is generated from glutamine Incorrect answer selected

nmlkji nmlkj Is produced by both inducible and constitutive forms of nitric oxide synthase Correct

nmlkji nmlkj Raises systemic vascular resistance Incorrect answer selected

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A 7-year-old boy presents with tall stature. On

investigation, his bone age is accelerated by one year.

The following should be considered:

True / False

The majority of tall children have a familial determinant for

it. Other causes include:

Hormonal

excess adrenal androgens

excess sex steroids

excess pituitary growth hormone (very rare)

hyperthyroidism.

Syndromes

Marfan's

homocystinuria

Klinefelter's

Sotos

Beckwith-Wiedemann syndrome.

In this case it would be unusual for congenital adrenal

hyperplasia to present so late, but in boys who are not salt

losers, a late presentation is possible.

Beckwith-Wiedemann syndrome can cause tall stature, but

presents in the neonatal period, not at seven years.

The accelerated bone age suggests a hormonal rather than

syndromic cause.


nmlkji nmlkj Marfan's syndrome Incorrect answer selected

nmlkji nmlkj Hyperthyroidism Correct

nmlkj nmlkji Congenital adrenal hyperplasia Incorrect answer selected

nmlkji nmlkj Beckwith-Wiedemann syndrome Incorrect answer selected

nmlkji nmlkj Precocious puberty Correct

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Periarticular calcification is a recognised consequence of:

True / False

Metastatic calcification can occur for a variety of reasons,

particularly post-inflammation, metabolic, or tumour.

The pattern may be very helpful diagnostically.

Examples include:

Renal osteodystrophy causing cutaneous vascular and visceral calcification

Tumours such as neuroblastoma, teratoma or Wilm's

Thyroid medullary carcinoma

Retinoblastoma

Osteosarcoma

Enchondroma.

Post-inflammation causes include:

Dermatomyositis (tissue)

Constrictive pericarditis (pericardium)

Meconium peritonitis (peritoneum)

Chronic pancreatitis (pancreas).

Infections:

Tuberculosis

Varicella zoster (VZ) pneumonia

Parasitic infiltration of the liver

Intracranial calcification from Toxoplasma

Cytomegalovirus (CMV).

Metabolic causes:

nmlkji nmlkj Chronic tophaceous gout Correct

nmlkj nmlkji Haemochromatosis Correct

nmlkj nmlkji Rotator cuff lesions of the shoulder Incorrect answer selected

nmlkji nmlkj Renal osteodystrophy Correct

nmlkji nmlkj Mixed connective tissue disease Correct

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Basal ganglia calcification (hypoparathryoidism)

Mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes (MELAS)

Petrelli (Zellweger)

Metastatic (chronic nephritis)

Hyperparathyroidism

Idiopathic hypercalcaemia

Hypervitaminosis D

Adrenals (Addison's, post-haemorrhage, Wolman's)

Intracranial (osteopetrosis, Sturge-Weber).


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Which of the following syndromes are associated with glucose intolerance?

True / False

Glucose intolerance is relatively common in pregnancy, in

the premature, and in the obese. Secondary diabetes can

occur in chronic pancreatitis, acromegaly,

phaeochromocytoma or Cushing's Disease. It is also

associated with ataxia telangiectasia, Werner and Cockayne

Syndromes (associated with premature aging) and insulin-

resistance occurs in Prader-Willi Syndrome. It is also

associated with familial combined hyperlipidaemia, and

familial hypertriglyceridaemia.

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nmlkji nmlkj Ataxia telangiectasia Correct

nmlkj nmlkji Cockayne Syndrome Incorrect answer selected

nmlkji nmlkj Duchenne Muscular Dystrophy Incorrect answer selected

nmlkj nmlkji Huntington's Chorea Correct

nmlkji nmlkj Prader-Willi Syndrome Correct

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Microalbuminuria in diabetes mellitus:

True / False

A critical stage in the development of diabetic renal disease

is the onset of microalbuminuria, defined as an albumin

excretion rate of 30-300mg per day. Albumin/Creatinine

ratio in a spot urine is a reasonable screening test for it.

Microalbuminuria predicts progression to renal failure and

early cardiovascular mortality in both Type 1 and Type 2

diabetes patients. Microalbuminuria is associated with

constellation of other risk factors for small and large vessel

damage which includes raised blood pressure, poor

glycaemic control, plasma lipid and clotting factor

abnormalities, left ventricular hypertrophy, and insulin

resistance. Treatment with ace inhibitors corrects

albuminuria and prevents progression to persistent

proteinuria. Blood glucose control significantly reduces the

risk of progression from normal albuminuria to

microalbuminuria. The treatment of microalbuminuria

appears highly cost beneficial and substantially increases

life expectancy. All diabetic patients aged 12-70 years

should be screened and the development of

microalbuminuria should alert the physician to set in motion

a programme of assessment, monitoring and correction of

all risk factors for renal and cardiovascular disease.


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nmlkj nmlkji Improves with exercise. Correct

nmlkj nmlkji Can be completely reversed with improved diabetic control. Correct

nmlkji nmlkj Is a marker of renovascular disease. Correct

nmlkj nmlkji Means the loss in urine of protein with a lower molecular weight than albumin. Correct

nmlkji nmlkj Can be screened for using an early morning spot sample of urine. Correct

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Which of the following may be responsible for a hypokalaemic alkalosis?

True / False

Metabolic alkalosis with hypokalemia is seen in pyloric stenosis

because of the loss of stomach acid with K and HCl, and cystic

fibrosis as in pseudo Bartter syndrome. Renal failure and urinary

diversion cause metabolic acidosis. Bartter syndrome is a form

of renal K wasting with elevated renin and aldosterone, the K is

usually <2.5.

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nmlkj nmlkji feeds that are too concentrated Correct

nmlkji nmlkj congenital pyloric stenosis Correct

nmlkj nmlkji cystic fibrosis Incorrect answer selected

nmlkji nmlkj previous urinary diversion Incorrect answer selected

nmlkji nmlkj renal failure Incorrect answer selected

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A 2 month old baby is admitted with seizures and failure to

thrive. Follwoing a seizure he is found to have a blood

glucose concentration of 1.2 mmol/L (3.0-6.0). Other

biochemistry reveals a lactic acidosis and hyperlipidaemia.

Examination reveals hepatomegaly with palpable kidneys.

What is the most likely diagnosis?

(Please select 1 option)

This baby has hypoglycaemia accounting for fits, associated

with lactic acidosis and hepatomegaly which would point to

a diagnosis of von Gierke's disease. This is a glycogen

storage disease due to deficiency of glucose-6-

phosphatase. Glycogen is stored in both liver and kidney

causing enlargement. Both Gaucher and Niemann-Pick

disease are lipid storage disorders. McArdle's disease is a

glycogen storage disease affecting muscle rather than liver

as is Pompe's disease. Neither would be expected to

produce profound hypoglycaemia.

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nmlkj Gaucher's disease

nmlkj McArdle's disease

nmlkj Niemann-Pick disease

nmlkj Pompe Disease

nmlkji Von Gierke disease Correct

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Which one of the following is true regarding protein metabolism?


There are 9 essential amino acids; all are required to maintain

nitrogen balance. Carbohydrates constitute 30-45% of total

caloric intake in children. Essential amino acids cannot be

synthesised and must be obtained from the diet. Human milk

contains the proteins casein, lactoglobulin and lactalbumin,

which provide a sufficient source of protein.

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nmlkj There are 5 essential amino acids.

nmlkj The absence of any of the essential amino acids results in a negative nitrogen balance This is the correct answer

nmlkji Protein constitutes about 30-45% of total daily calorie intake in infants and children Incorrect answer selected

nmlkj Essential amino acids can be synthesized in the liver and kidneys

nmlkj Human milk as the only food provides an insufficient source of protein for a 1-year-old healthy infant

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Glucose-6-phosphate dehydrogenase deficiency:

True / False

Drugs which cause haemolysis include

aspirin

antimalarials

antibacterials

sulphonamides.

Splenectomy is not helpful in the management of this

condition.

Young red blood cells have near normal enzymatic capacity.

G6PDH deficiency is X-linked recessive. It can manifest in

females if there are two copies of the abnormal gene, or if

Lyonisation results in one gene being expressed, or if the

mutation leads to an inhibitor of G6PD rather than a

deficiency.

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nmlkji nmlkj Causes drug-induced haemolysis Correct

nmlkj nmlkji Is an indication for splenectomy Correct

nmlkji nmlkj Is inherited as a sex-linked condition Correct

nmlkj nmlkji Is more pronounced in mature red blood cells Incorrect answer selected

nmlkj nmlkji Is not clinically manifest in girls Correct

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Respiratory and metabolic acidosis both exist in a

True / False

Severe respiratory disease associated with hypoxia can lead

to metabolic acidosis, as in HMD and MAS.

An infant with diarrhoea may get metabolic acidosis, but

not respiratory, as can an infant with CCHD.

In acute salicylate overdose there is respiratory alkalosis,

with later metabolic acidosis (this also occurs in chronic

poisoning).

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nmlkji nmlkj Preterm infant with hyaline membrane disease Correct

nmlkji nmlkj Term infant with meconium aspiration syndrome Correct

nmlkji nmlkj One-week-old infant early in presentation of cyanotic congenital heart disease Incorrect answer selected

nmlkj nmlkji One-month-old infant with diarrhoea Correct

nmlkji nmlkj Two-year-old child with acute salicylate overdose Incorrect answer selected

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At 2 months of age a boy is referred with abdominal mass.

This has been found at the routine 6 week surveillance

review. He was born at term weighing 3.7 kg, and the

parents were first cousins.

On examination he has low-set ears, frontal bossing, a

depressed nasal bridge and long philtrum. He has 4 cm

hepatomegaly and 3 cm splenomegaly. He has poor head

control. Although he smiled at 6 weeks he has not made

further developmental progress.



The consanguinity, dysmorphic features,

hepatosplenomegaly and developmental arrest suggest a

storage disease. These include lipidoses,

mucopolysaccharidoses and glycogenoses.

In this case the features are most characteristic of infantile

GM1 Gangliosidosis, 50% of whom have a macular cherry

red spot.

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nmlkji Hunter syndrome Incorrect answer selected

nmlkj Hurler syndrome

nmlkj Gangliosidosis This is the correct answer

nmlkj San Filippo syndrome

nmlkj Zellweger syndrome

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A 15 month old girl presents with a generalised convulsion

lasting 8 minutes. She has previously been well and

apyrexial, though she drinks about 3 litres/day of dilute

juice. She was born at 37+4/40 weighing 3.9kg and there

were no neonatal problems.

On examination she is apyrexial but remains drowsy. She is

on the 75% for height and weight. Respiratory rate is

20/min and pulse is 100/min. There are no specific

abnormalities to find. BM stix is 4.5 mmol/l.



She has had an afebrile generalised seizure. The history of

polydipsia makes hyponatraemia the likely diagnosis. A large

number of electrolyte disturbances can cause fits including

hypoglycaemia, hyponatraemia, hypocalcaemia and

hypomagnesaemia.

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nmlkj Drug ingestion

nmlkj Hypocalcaemia

nmlkj Hypoglycaemia

nmlkji Hyponatraemia Correct

nmlkj Idiopathic epilepsy

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Theme: Storage disorders.

For each scenario choose the most likely diagnosis:

A 2-year-old girl presents with coarse facies, stiff joints, mental retardation and cloudy corneas.

Incorrect - The correct answer is Hurler syndrome

In the 2-year-old girl there is MR, coarse facies and cloudy

corneas, and this suggests Hurler's.

A 4-year-old boy presents with coarse facies, stiff joints, short stature and clear corneas.

Incorrect - The correct answer is Hunter syndrome

In the 4-year-old boy there is coarse facies, no MR and clear

corneas, characteristic of Hunter's.

A 3-year-old girl presents with mild coarse facies, severe kyphosis, knock knees and cloudy corneas.

Incorrect - The correct answer is Morquio syndrome

In the 3-year-old girl there is no MR, but coarse facies and

severe joint involvement, suggesting Morquio syndrome.

The mucopolysaccharidoses are a group of disorders

associated with deposition of abnormal metabolites in the

tissues, principally the liver, brain and joints. The specific

manifestations depend on the precise defect.

A GM1 Gangliosidosis

B Hunter syndrome

C Hurler syndrome

D I-cell syndrome

E Marfan syndrome

F Moroteaux-Lamy syndrome

G Morquio syndrome

H Sanfilippo syndrome

I Scheie syndrome

66Hunter syndrome

66Morquio syndrome

66Scheie syndrome

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Theme: Abdominal pain.

For each scenario choose the most likely diagnosis:

A 9 month old boy presents with abdominal pain and black offensive stools. On examination he appears pale.

Correct

In the 9 month old boy the major symptom is melaena. The

pallor suggests significant bleeding. At this age the most likely

diagnosis is Meckel's diverticulum.

A 12-year-old girl presents with a 1 year history of central abdominal pain lasting 1-3 hours at a time.

Incorrect - The correct answer is Recurrent abdominal pain of childhood

The 12-year-old girl suggests recurrent abdominal pain of

childhood . In abdominal migraine there may be specific

precipitants, and associated headache and a family history.

A 3-year-old boy presents with a 3 day history of fever, abdominal pain and pain and swelling of knees and ankles. He has had two similar episodes in the past. On examination he has a 3cm liver.

Correct

The 3-year-old boy has recurrent episodes of abdominal pain,

fever and arthritis. There is hepatomegaly. All these point to

A Abdominal migraine

B Familial Mediterranean fever

C Gastro-oesophageal reflux

D Giardiasis

E Inflammatory bowel disease

F Meckel's diverticulum

G Pancreatitis

H Peptic ulcer disease

I Recurrent abdominal pain of childhood

66Meckel's diverticulum

66Abdominal migraine

66Familial Mediterranean fever

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Familial Mediterranean Fever.

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A 17-year-old male who appears tall and thin for his age,

presents with a high arch palate, chest wall deformities and

livedo reticularis. Which of the following is also associated

with this syndrome?


This syndrome is most likely to be homocystinuria. Marfan's

syndrome is associated with upward dislocation of the lens,

but not with livedo reticularis, which is seen in

Homocystinuria due to the venous thrombosis in the small

vessels of the skin. Homocystinuria is associated with

downward dislocation of the lens, and is an Autosomal

Recessive disorder. Osteoporosis, and not osteopetrosis is

seen in homocystinuria. A positive Guthrie testis associated

with Phenylketonuria. Reduced activity of cystathionine -

synthase results in accumulation of homocysteine and

methionine, interfering with collagen cross-linking, which is

the cardinal feature of Homocystinuria.

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nmlkji Autosomal Dominance Incorrect answer selected

nmlkj Methionine accumulation This is the correct answer

nmlkj Osteopetrosis

nmlkj Positive Guthrie test

nmlkj Upward dislocation of the lens

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Questions

Work Smart Session

- MRCPCH Part 1 B

Question: 7 of 7

The following findings suggest a diagnosis of Pompe's Disease

rather than Von Gierke's Disease:

True / False

Von Gierke's Disease (glucose-6 phosphatase deficiency) has infant

onset, with liver enlargement, growth failure, and hypoglycaemia. It

is treated with long-acting carbohydrates, and the prognosis is

good. Pompe's Disease (lysosomal a-glucosidase deficiency), again

has infant onset, with a lesser degree of liver enlargement than Von

Gierke's Disease, but a predominant effect on muscle. This results

in hypotonia, a hypertrophic cardiomyopathy, and death from heart

failure.


Time taken: 3 mins 25 secs

nmlkj nmlkji 3cm liver Correct

nmlkj nmlkji Infantile onset Correct

nmlkji nmlkj Hypotonia Correct

nmlkji nmlkj Hypertrophic cardiomyopathy Correct

nmlkji nmlkj Absence of hypoglycaemia Correct

Finish

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- MRCPCH Part 1 B

Question: 6 of 7

Recognised features of distal RTA are:

True / False

Distal RTA results from a deficiency of hydrogen iron secretion by

the distal tubular and collecting duct. There is decreased formation

of carbonic acid then carbon dioxide, resulting in a loss of

bicarbonate of up to 10% of the filtered load. The pH of the urine

cannot be reduced below 5.8, and there is secondary

hyperchloraemia and hypokalaemia. Because less bicarbonate is

wasted in distal and proximal RTA, the hypokalaemia is less severe.

Nephrocalcinosis and nephrolithiasis may occur.

Aetiology:

1. Primary: Sporadic or AD or AR.

2. Secondary:

a) Intestinal nephritis (obstructive, pyelonephritis, transplant rejection, sickle cell disease, medullary sponge kidney).

b) Toxins (amphotericin, lithium, toluene)



nmlkji nmlkj Hypokalaemia Correct

nmlkji nmlkj Nephrocalcinosis Correct

nmlkj nmlkji Inability to reduce urine below 7 Correct

nmlkj nmlkji Inability to form ammonia in distal tubular cells Correct

nmlkji nmlkj More severe manifestations than proximal RTA Incorrect answer selected

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Work Smart Session

- MRCPCH Part 1 B

Question: 5 of 7

In relation to Maple Syrup Urine Disease:

True / False

Maple Syrup Urine Disease usually presents with severe metabolic

acidosis, hypoglycaemia, and seizures. There is increased excretion

of the branch chain amino acids, leucine, isoleucine and valine,

resulting in a characteristic maple syrup smell in the urine. Delayed

diagnosis can result in learning difficulties and neurological

dysfunction, and acute illnesses may precipitate a rapid decline.



nmlkj nmlkji It may present with prolonged jaundice. Correct

nmlkji nmlkj It usually presents with severe metabolic acidosis, hypoglycaemia and seizures. Correct

nmlkj nmlkji The urine has a characteristic fishy smell. Correct

nmlkji nmlkj There is increased excretion of branch chain amino acids in the urine. Correct

nmlkji nmlkj There is a high risk of early death during acute illnesses. Correct

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Work Smart Session

- MRCPCH Part 1 B

Question: 3 of 7

Which of the following enzyme defects is associated with a

characteristic body odour?


The following inborn errors of amino acid metabolism are associated

with abnormal odours: Glutaric acidaemia type II (sweaty feet),

hawkinsinuria (swimming pool), isovaleric acidaemia (sweaty feet),

maple syrup urine disease (maple syrup), methionine malabsorption

(cabbage), multiple carboxylase deficiency (tomcat urine),

oasthouse urine disease (hops-like), phenylketonuria (mousy or

musty), trimethylaminuria (rotting fish), tyrosinaemia (rancid, fishy

or cabbage-like). In addition, ketones may be smelt in diabetic

ketoacidosis, and some intermediary disorders of fatty acid

metabolism can result in fishy smells. The general rule is that if a

child smells peculiar he requires a metabolic work-up.



nmlkj Phenylalanine aminotransferase

nmlkj Galactose0-phosphate-uridyltransferase

nmlkj Ornithine transcarbamylase deficiency

nmlkj Fumaryl acetoacetase

nmlkji Branched chain ketoacid decarboxylase Correct

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Work Smart Session

- MRCPCH Part 1 B

Question: 1 of 7

Theme: Abnormal eye movements.

For each scenario choose the most likely diagnosis.

A 9-month-old boy presents with abnormal eye appearance. His right eye has a 'keyhole'-like appearance, and he has limited fixation with that eye.

Correct

The 9-month-old has a coloboma. This is usually isolated, but can be

part of CHARGE syndrome.

From birth, a 6-month-old girl has been noted to have rhythmic oscillation of both eyes. She tends to tilt her head.

Incorrect - The correct answer is Congenital nystagmus

The 6-month-old has nystagmus. This may be congenital, associated

with head tilting, or sensory, related to impaired vision.

A 15-month-old child presents with fever and decreased conscious level. On examination he has chaotic conjugate eye movements.

Incorrect - The correct answer is Opsoclonus

The 15-month-old has opsoclonus, which can complicate encephalitis

(as here), hydrocephalus or be a presenting feature of neuroblastoma.

In considering abnormal eye movements the key questions are

age of onset

whether neurological or visual impairment are present

whether eye movements are rhythmic.


A Albinism

B Cataract

C Coloboma

D Congenital nystagmus

E Hyperbilirubinaemia

F Lactic acidosis

G Ocular dysmetria

H Opsoclonus

I Spasmus nutans

66Coloboma

66Albinism

66Ocular dysmetria

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Metabolic Medicine

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