Sturge-Weber Syndrome. Study of 55 Patients

Abstract

Purpose: To review the clinical and neuroimaging features of a large series of patients with Sturge-Weber syndrome (SWS) seen over a 40-year period. Methods: Fifty-five patients with SWS (30 males and 25 females), were studied between 1965 and 2004. Results of neurological and ophthalmological examinations, electroencephalographic, and neuroimaging studies were reviewed. All patients were seen by one of the authors (I. P-C). Results: Epilepsy, hemiparesis, mental retardation and ocular problems were the most frequent and severe features of patients with Sturge-Weber syndrome in this series. The facial nevus flammeus was unilateral in 35 (63.5%) patients, bilateral in 17 (31%) and absent in 3 (5.5%) of the patients with leptomeningeal angiomas. Seven (41%) of the 17 patients with bilateral nevus flammeus had unilateral leptomeningeal angiomas. Seizures occurred in 47 patients (85.5%). Complete seizure control was obtained in 20 patients (42.5%), but in 2 of these 20 patients seizures were controlled only after lobectomy. All patients with unilateral or bilateral upper eyelid nevus flammeus had ipsilateral, unilateral or bilateral choroid-retinal angiomas. Only 20 (36%) of the 55 patients had low-normal or borderline intelligence (IQs<70). No relationship was observed between the size of the facial nevus flammeus and the severity of the brain lesion. Conclusions: Epilepsy, hemiparesis, mental retardation and ocular problems were the most frequent and severe features of patients with Sturge-Weber syndrome in this series. Cerebral lesions followed a progressive course during early childhood, but not later. Early surgical treatment controlled the seizures but other neurological problems such as hemiparesis and intellectual deficits showed a less satisfactory response. Early onset of seizures and poor response to medical treatment, bilateral cerebral involvement and unilateral severe lesions were indicative of a poor prognosis. Limited intelligence and social skills, poor aesthetic appearance and seizures complicated the integration of SWS patients. These features must be addressed in order for the patients improve social interactions, obtain gainful employment and achieve a better quality of life. Tous les patients ont été examinés par un des auteurs (I.P -C). Résultats : Les manifestations les plus fréquentes et les plus sévères chez les patients atteints du SSW dans cette série de cas étaient l'épilepsie, l'hémiparésie, le retard mental et les problèmes oculaires. Le naevus flammeus facial était unilatéral chez 35 patients (63,5%) atteints d'angiomes des leptoméninges, bilatéral chez 17 patients (31%) et absent chez 3 patients (5,5%). Sept patients (41%) parmi les 17 patients atteints de naevus flammeus bilatéral avaient des angiomes leptoméningés unilatéraux. Quarante-sept patients (85,5%) présentaient des crises convulsives. Un contrôle absolu des crises a été obtenu chez 20 patients (42,5%). Cependant, chez 2 de ces patients les crises ont été contrôlées seulement après une lobectomie. Tous les patient...

Seizure Recurrence 29 Years After Hemispherectomy for Sturge Weber Syndrome

“…Sequential computed tomography and MRIs demonstrated an increase in density or signal of the cerebral lesion located in the zone subjacent to the leptomeningeal angioma. They also revealed the appearance of cortico-subcortical atrophy in those regions 14 . However, it should be noted that these progressive changes were seen in patients that did not have their leptomeningeal angiomas removed, either through lobectomy or hemispherectomy.…”

Síndrome de Sturge-Weber e suas repercussões oculares: revisão da literatura

“…Estão quase sempre presentes na SSW e, habitualmente, são craniais (98%, cranial; 52%, extracranial) (17) . Em uma série de 55 casos examinados (18) , 35 (63,5%) apresentavam angioma facial unilateral; 17 (31%), bilateral e ausente em 3 (5,5%).…”

“…Na maior série de casos já realizada em pacientes com SSW (22) , um total de 171 indivíduos foram observados convulsões em 80% (87% com angioma facial bilateral e 71%, unilateral). As convulsões parecem ser um fator de risco para retardo mental e alterações emocionais e/ ou do comportamento (17)(18)(19)(20)(21)(22) .…”

“…O tratamento cirúrgico precoce controla a epilepsia, porém não exerce controle satisfatório em relação às outras manifestações neurológicas (18) .…”

Angioma of the face: about two cases including one revealing Sturge Weber and Krabbe syndrome

“…Le diagnostic doit être évoqué devant tout enfant présentant un angiome plan de la face atteignant le V1, puis complété par une imagerie cérébrale (IRM ou tomodensitométrie) et un examen ophtalmologique car les manifestations ophtalmologiques et neurologiques (épilepsie, retard mental, déficit moteur) en grèvent le pronostic [2].…”