Pediatric Neurology Flashcards
Angiokeratomas on the skin of the face are seen in:
a. Fabry disease
b. Refsum’s disease
c. ataxia telangiectasia
d. Phenylketonuria
a. Fabry disease
Inheritance in adrenoleukodystrophy is:
a. autosomal dominant
b. autosomal recessive
c. linked to the X-chromosome
d. adrenoleukodystrophy is a mitochondrial disease
c. linked to the X-chromosome
Cataracts are characterised by:
a. Wilson’s disease
b. cerebrotendinous xanthomatosis
c. McArdle’s disease
d. adrenoleukodystrophy
a. Wilson’s disease
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
d. ataxijo
A boy with reflex judgment, a positive Babinski sign and dark skin:
a. adrenoleukodystrophy
a. adrenoleukodystrophy
In metachromatic leukodystrophy, the enzyme is defective:
a. aryl sulphatase A
b. beta galactosidase
c. Phosphofructokinase
d. sphingomyelinase
a. aryl sulphatase A
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
e. arise as a result of the spread of triplet CAG recurrences
Pregnant mother goes for tests, child has phenylketonuria. What is found
dangerously elevated in the blood?
a. phenylalanine
b. phenylketone
a. phenylalanine
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. Chiari malformation type I
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
b. hexosaminidase type A
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
c. Neimann-Pick type C and progressive supranuclear palsy
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
b. Sturge-Weber syndrome