STURGE-WEBER SYNDROME - STUDY OF 40 PATIENTS

Forty patients with Sturge-Weber syndrome were studied over a 26-year period. The nevus flammeus was unilateral in 27 patients (twice as oft en on left side) and bilateral in 13 patients. Only 3 of these 13 pati ents had bilateral cerebral lesions. Seizures, most of which were foca l, were present in 32 patients (80%). The percentage of patients in wh om the seizures subsequently became generalized was very high. Seizure presentation coincided with febrile episodes in 10 of 32 patients (31 %). Total seizure control was obtained in 15 patients (47%). Abnormali ty of the cerebral parenchyma can be detected from birth in some patie nts and has a progressive character; al the same time, progressive atr ophy and parenchymatous hyperdensity of the affected hemisphere is evi dent, as well as a decrease in arterial size, especially during the fi rst decade of life. No relationship exists between the size of the fac ial nevus flammeus or its unilateral or bilateral location and clinica l neurologic impairment. Conversely, a direct relationship exists betw een greater anatomic manifestations (i.e., atrophy, calcification) in the involved hemisphere when the lesion is unilateral as well as the p resence of leptomeningeal angiomatosis in both cerebral hemispheres in patients with bilateral facial nevus flammeus and the severity of cli nical disorder. s. Mental retardation was present in 60% of patients a nd was severe in 32.5% of all patients. Even though computed tomograph y and T1- and T2-weighted magnetic resonance imaging have great diagno stic value, magnetic resonance imaging enhanced with gadolinium-DTPA d iscloses the cerebral, leptomeningeal, and ocular lesions before the f irst evidence of neurologic abnormality. It was performed in 11 patien ts of this series. The treatment of cutaneous nevus flammeus by laser decreases considerably its pigmentation and improves the appearance of the patients.