Pediatric neurology

Question 1

Angiokeratomas (vasos subepidérmicos dilatados) on the skin of the face are found in

Answer 1

Fabry disease

Question 2

Inheritance in adrenoleukodystrophy es

Answer 2

Linked to the X-chromosome

Question 3

Are there cataracts in cerebrotendinous xanthomatosis

Answer 3

Yes

Question 4

Boy with reflex judgment, positive Babinski sign and dark skin

Answer 4

Adrenoleucodystrophy

Question 5

Enzyme defective in metachromatic leukodystrophy

Answer 5

aryl sulphatase A

Question 6

Phacomatosis characteristic

Answer 6

Includes neurofibromatosis 1 and 2
Autosomal dominant diseases
Von Hippel-Lindau disease
Skin and nerves are usually affected

Question 7

MRI shows tonsils of the cerebellum looking trough the foramen magnun

Answer 7

Chiari malformation type I

Question 8

Tay-Sachs disease is caused by a lack of function of

Answer 8

Hexosaminidase type A

Question 9

Diseases characterised by vertical supranuclear palsy

Answer 9

Neimann-Pick type C and progressive supranuclear palsy

Question 10

Syndrome characterized by congenital vascular disorder, skin changes, seizures and developmental delay

Answer 10

Sturge-Weber syndrome