Clinical Features

Neurologic manifestations include seizures and focal neurologic deficits; normal intellect or variable degrees of mental retardation are common.

Cutaneous sign, facial vascular nevus (nevus flam-meus, port-wine stain) is present at birth, usually confined to the supraorbital region and scalp (Fig. 13.31).

Ocular signs include choroidal angioma, congenital glaucoma, and buphthalmos (abnormal enlargement of the eye).

Radiologic findings: Cortical calcifications, usually demonstrable after 2 years of age, appear on plain radiograph and CT scan as double-contoured (railroad track) curving lines corresponding to the gyral pattern (see Fig. 13.31). Leptomeningeal angiomatosis is readily visible with contrast-enhanced MRI.

Visceral manifestations are angiomas. Bony angio-matosis is an additional feature.

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