q2 - ebnalfady

[ArchivalUser]

A 10-year-old boy with history of epilepsy and mental retardation is brought to a specialty clinic for
evaluation. Physical examination is remarkable for several ovoid hypopigmented areas on the
trunk and large numbers of red and yellow papules on the face, particularly near the mouth.
Biopsy of the papules demonstrates angiofibromata. This patient is most likely to have which of
the following central nervous system pathologies?

A. Acoustic neuromas

B. Capillary hemangioblastomas

C. Herniation of cerebellar tonsils into foramen magnum

D. Large cortical hamartomas

E. Leptomeningeal angiomatosis

[ArchivalUser]

A. Acoustic neuromas

[ArchivalUser]

dd?

[ArchivalUser]

DDDD..tuberous sclerosis????????not sure

[ArchivalUser]

try before posting the answer

[ArchivalUser]

ddd.

[ArchivalUser]

Ans is DDDDDDDDDDDDDDDDDDDDDD
tuberous sclerosis!!!!!!!!!!!!!!!!!!!!

[ArchivalUser]

Explanation:

The correct answer is D. The disease is tuberous sclerosis. The facial angiofibromata are also
called adenoma sebaceum, and the hypopigmented patches on the trunk are called ash-leaf spots.
This disease is one of the neurocutaneous disorders called phacomatoses. Tuberous sclerosis is
inherited as an autosomal dominant trait, and epilepsy and mental retardation are commonly seen
in this disorder. Large, firm, white hamartomatous nodules (tubers) are seen in the cortex and
in subependymal sites. The tubers consist of aberrantly arranged neurons and/or glia. Patients
may also have pancreatic cysts, renal angiomyolipomas, and cardiac rhabdomyomas. Rarely, an
astrocytoma will arise in a tuber.

Acoustic neuromas (choice A) are a feature of neurofibromatosis Type II.

Capillary hemangioblastomas (choice B) are a feature of Von Hippel-Lindau syndrome.

Herniation of cerebellar tonsils (choice C) is a feature of Arnold-Chiari malformation.

Leptomeningeal angiomatosis (choice E) is a feature of Sturge-Weber disease