Clinical Features

Neurologic manifestations commonly include seizures and mental retardation. The seizures may begin in infancy, and mental retardation may be severe and progressive. Symptoms and signs vary according to the location and size of the lesions. CT scan and MRI demonstrate calcifications, cortical tubers, and heterotopia.

Cutaneous signs are diagnostic and include sebaceous adenomas (angiofibromas) along the nasolabial folds, subungual fibromas, hypomelanotic macules, and Shagreen patches (fibrosis) on the face and trunk. Ocular sign: Retinal glioma is also characteristic. Visceral manifestations, important, but often not obvious clinically, include rhabdomyoma of the heart, hamartomas of the kidneys, pheochromocytoma, and cysts and adenomas of various organs (Fig. 13.27).

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