Sturge-Weber综合征15例临床分析

Clinical characteristics of 15 cases with Sturge-Weber syndrome

目的总结Sturge-Weber综合征的临床特征及诊断依据,以提高对本病的认识。方法对15例SWS患儿的临床表现、影像学特征、实验室资料以及随访进行总结。结果男5例,女10例。就诊年龄1.5个月至12岁8个月,均以神经系统症状为主要临床表现,癫发作15例,偏瘫11例,智力、体力发育落后于同龄儿12例,头痛3例,卒中样发作3例。11例可见以颜面部为主的皮肤血管瘤。10例于首次就诊时行眼科检查,除1例眼压稍高外余9例均未见异常。15例行头颅CT检查,沿脑回分布的钙化13例,微小钙化2例。15例行头颅MRI检查,可见病灶处呈低信号改变,其中9例可见病灶周围脑沟增深、脑回萎缩。12例行头颅MRI增强扫描,均可见沿脑回走形的线状强化影。13例定期随访,随访6个月至13年,9例仍有癫发作,其中4例发作频繁。结论 Sturge-Weber综合征主要临床表现为癫发作、偏瘫、智力体力发育落后、卒中样发作和头痛,颜面部皮肤血管瘤是本病标志性体征,小年龄儿童眼部异常表现不明显。头颅影像学显示脑回样钙化、软脑膜血管瘤及局部脑萎缩是诊断本病的重要依据。本病预后轻重不一,治疗主要以对症为主。

Objective To summarize the clinical characteristics and diagnostic methods of Sturge-Weber syndrome( SWS). Methods The clinical data,cranial imaging and laboratory examinations of 15 patients with SWS were analyzed and followed up. Results The patients consisted of 5 males and 10 females and their first visit ranged from 1. 5 months to 12 years and 8 months of age. The main clinical presentation of these patients was neurological symptoms,including epileptic seizure in 15 patients, hemiparesis in 11 patients,mental retardation in 12 patients,headache in 3 patients and strokelike episodes in 3 patients. Eleven patients were found facial cutaneous nevus flammeus. Ten patients were given ophthalmological examinations at their first hospital visit and only 1 patient was found mild high intraocular pressure,the others were normal. Neuroimaging was performed in all patients. Cortical and subcortical calcification were found on CT scan in 13 patients,a diffusely increased density suggestive of microcalcifications in 2 patients. Focal decreased signal in T2-weighted MRI was found in 15 patients,focal cortical atrophy in 9 patients. Leptomeningeal angiomatosis presenting with the liny enhancement along the gyrus on contrast enhanced MRI was found in 12 patients. Thirteen patients were followed up for 6 months to 13 years. Nine patients suffered from epileptic seizure constantly and 4 of them showed frequent attacks. Conclusion Epileptic seizure,hemiparesis,mental retardation,headache and strokelike episodes are the main manifestation in patients with SWS. The marker sign of SWS is a flat capillary facial angioma. The abnormality of eyes may be absent during childhood,but the patients with SWS should be given ophthalmological examination periodically. It is calcification,leptomeningeal angioma and focal atrophy in cranial imaging that play the most important role in the diagnosis of the illness. The prognosis in SWS varies widely. Treatment is largely symptomatic.