Encephalotrigeminal angiomatosis (Sturge-Weber disease); clinical study of thirty-five cases.

Abstract

The characteristic feature of encephalotrigeminal angiomatosis is the combination of venous angioma of the leptomeninges over the cerebral cortex with ipsilateral angiomatous lesions on the face. This is a study of 35 cases in which data were sufficient to establish the diagnosis. The most common clinical feature was a convulsive disorder, present in 31 (89%) of the patients. Dermal venous angiomas were present in 30, abnormal roentgenographic findings in 22, mental retardation in 19, ocular involvement in 13, and hemiplegia in 11. Four cases are described in detail to illustrate the symptoms and usual course of the disease. The findings are extremely variable. In some patients anticonvulsant therapy was effective. In others the neurological complications progressed unless halted by surgery. Craniotomy with surgical ablation of the affected parts of the cerebrum controlled the seizures and behavior problems of some patients, but in one of the cases described the lesion could not be extirpated because the huge angioma covered the entire left cerebrum and the cystic subarachnoid space contained aberrant vessels. Early diagnosis is important in any case because neurosurgical techniques have evolved to the point where cortical excision and hemispherectomy are feasible when called for.