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Virtual Pediatric Hospital: Paediapaedia: Tuberous Sclerosis Paediapaedia: Neurological Diseases

Tuberous Sclerosis

Michael P. D'Alessandro, M.D.
Peer Review Status: Internally Peer Reviewed


Clinical Presentation:
Clinical triad is adenoma sebaceum, seizures, and mental retardation.

Etiology/Pathophysiology:
A hamartomatous proliferation of fibrous and connective tissue in the brain, skin, skeleton, kidneys, and heart.

Pathology:
The hamartomatous lesions in the brain consist of proliferating glial tissue and ganglion cells.

Imaging Findings:
The intracranial tubers are usually calcified and usually are in a periventricular / subependymal location but they can occasionally be found in the brain parenchyma. The tubers may undergo malignant degeneration into giant cell astrocytomas.

DDX:

References:
See References Chapter.

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