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.