Pediatric Neurology Flashcards

1
Q

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

A

a. Fabry disease

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2
Q

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

A

c. linked to the X-chromosome

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3
Q

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

A

a. Wilson’s disease

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4
Q

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

A

d. ataxijo

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5
Q

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

A

a. adrenoleukodystrophy

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6
Q

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

A

a. aryl sulphatase A

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7
Q

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

A

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

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8
Q

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

A

a. phenylalanine

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9
Q

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

A

a. Chiari malformation type I

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10
Q

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

A

b. hexosaminidase type A

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11
Q

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

A

c. Neimann-Pick type C and progressive supranuclear palsy

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12
Q

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

A

b. Sturge-Weber syndrome

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