Pediatric Neurology

Question 1

Angiokeratomas on the skin of the face are seen in:
a. Fabry disease
b. Refsum’s disease
c. ataxia telangiectasia
d. Phenylketonuria

Answer 1

a. Fabry disease

Question 2

Inheritance in adrenoleukodystrophy is:
a. autosomal dominant
b. autosomal recessive
c. linked to the X-chromosome
d. adrenoleukodystrophy is a mitochondrial disease

Answer 2

c. linked to the X-chromosome

Question 3

Cataracts are characterised by:
a. Wilson’s disease
b. cerebrotendinous xanthomatosis
c. McArdle’s disease
d. adrenoleukodystrophy

Answer 3

a. Wilson’s disease

Question 4

A general practitioner sends a technician who has been suffering from headaches for
a long time to a neurologist. An MRI of the head was performed, which showed
Chiari malformation I and no other changes. What is the neurologist most likely to
find?
a. dementia
b. psychosis
c. obstructive hydrocephalus
d. ataxijo

Answer 4

d. ataxijo

Question 5

A boy with reflex judgment, a positive Babinski sign and dark skin:
a. adrenoleukodystrophy

Answer 5

a. adrenoleukodystrophy

Question 6

In metachromatic leukodystrophy, the enzyme is defective:
a. aryl sulphatase A
b. beta galactosidase
c. Phosphofructokinase
d. sphingomyelinase

Answer 6

a. aryl sulphatase A

Question 7

What is not characteristic of phacomatosis?
a. this includes neurofibromatosis 1 and 2
b. they are autosomal dominant diseases
c. Von Hippel-Lindau disease
d. skin and nerves are usually affected
e. arise as a result of the spread of triplet CAG recurrences

Answer 7

e. arise as a result of the spread of triplet CAG recurrences

Question 8

Pregnant mother goes for tests, child has phenylketonuria. What is found
dangerously elevated in the blood?
a. phenylalanine
b. phenylketone

Answer 8

a. phenylalanine

Question 9

The tonsils of the cerebellum on MRI looking through the foramen magnum. What is
it?
a. Chiari malformation type I
b. Chiari malformation type II
c. Chiari malformation type III

Answer 9

a. Chiari malformation type I

Question 10

Tay-Sachs disease is caused by a lack of function (Scaddig 457):
a. acetylcholinesterase
b. hexosaminidase type A
c. glycine decarboxylases
d. phenylalanine hydroxylases
e. dopa decarboxylases

Answer 10

b. hexosaminidase type A

Question 11

Which diseases are highly characterised by vertical supranuclear palsy?
a. multiple system atrophy and progressive supranuclear palsy
b. Progressive supranuclear palsy and Alzheimer’s disease
c. Neimann-Pick type C and progressive supranuclear palsy
d. corticobasal degeneration and myotonic dystrophy
e. bulbar ALS and corticobasal degeneration

Answer 11

c. Neimann-Pick type C and progressive supranuclear palsy

Question 12

Which of the following syndromes is a rare congenital vascular disorder
characterised by skin changes, seizures and developmental delay?
a. Schuman-Wagner syndrome
b. Sturge-Weber syndrome
c. Schubert-Webber syndrome
d. Stooge-Wedekin syndrome
e. Strooge-Williams syndrome

Answer 12

b. Sturge-Weber syndrome