Sujansky E, Conradi S
Division of Genetics, University of Colorado School of Medicine, Denver 80218-1088, USA.
Am J Med Genet. 1995 May 22;57(1):35-45. doi: 10.1002/ajmg.1320570110.
Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by cutaneous facial angioma, leptomeningeal angioma associated with seizures and other neurologic complications including mental retardation, and glaucoma. Only limited information about long-term outcome, including the societal integration of adult patients, is available in the literature. Data on 52 adults with SWS, ages 18-63 years, ascertained through the Sturge-Weber Foundation, were obtained via written questionnaires, telephone interviews, and reviews of medical records. The distribution of port-wine stains (cranial 98%, extracranial 52%) and the prevalences of glaucoma (60%), seizures (83%), neurologic deficit (65%), and other complications were established. The age of onset of glaucoma (0-41 years), the age of onset of seizures (0-23 years), and the correlation between the distribution of port-wine stains and the prevalence of seizures was identified. The relationship between the age of onset of seizures and seizure control was established. In those with and without seizures, the prevalences of developmental delay (43% vs. 0%), emotional and behavior problems (85% vs. 58%), special education requirements (71% vs. 0%), and employability (46% vs. 78%) were analyzed. Overall, 39% were financially self-sufficient, and 55% were or could be married. Ten participants produced 20 liveborn offspring; 17 were healthy, and tuberous sclerosis, a café-au-lait spot, and a "birthmark" were found in 1 child each. The results of this study can be used for genetic counseling in Sturge-Weber syndrome.
斯特奇-韦伯综合征（SWS）是一种神经皮肤疾病，其特征为面部皮肤血管瘤、与癫痫及其他神经并发症（包括智力迟钝）相关的软脑膜血管瘤以及青光眼。文献中关于长期预后（包括成年患者的社会融入情况）的信息有限。通过斯特奇-韦伯基金会确定了52名年龄在18至63岁之间的成年SWS患者的数据，这些数据通过书面问卷、电话访谈以及病历审查获得。确定了葡萄酒色斑的分布情况（颅骨部98%，颅外部52%）以及青光眼（60%）、癫痫（83%）、神经功能缺损（65%）和其他并发症的患病率。确定了青光眼的发病年龄（0至41岁）、癫痫的发病年龄（0至23岁）以及葡萄酒色斑分布与癫痫患病率之间的相关性。确定了癫痫发病年龄与癫痫控制之间的关系。分析了有癫痫和无癫痫患者中发育迟缓（43%对0%）、情绪和行为问题（85%对58%）、特殊教育需求（71%对0%）以及就业能力（46%对78%）的患病率。总体而言，39%的患者在经济上自给自足，且55%的患者已婚或能够结婚。10名参与者育有20名活产后代；其中17名健康，1名儿童患有结节性硬化症，1名儿童有咖啡斑，1名儿童有“胎记”。本研究结果可用于斯特奇-韦伯综合征的遗传咨询。
