Kivan Husam, Al Hussein Sahar
Medicine, Ondokuz Mayis University, Samsun, TUR.
General Medicine, Damascus University, Damascus, SYR.
Cureus. 2023 Mar 16;15(3):e36224. doi: 10.7759/cureus.36224. eCollection 2023 Mar.
Sturge-Weber syndrome (SWS) is a rare neurocutaneous vascular disorder characterized by a facial birthmark known as a port-wine stain (PWS), eye abnormalities, and abnormal blood vessels in the brain. It is basically a multisystem disorder that can involve the nervous system, skin, and eyes (phakomatosis). We report a case of a 14-year-old female who presented to the outpatient department with a complaint of upper lip swelling. She had a visible PWS since birth on the left side of her face, which was extending onto the right side of the face as well. She had two episodes of paroxysmal hemiparesis that were four years apart. Moreover, she was diagnosed with epilepsy when she was three years old. She was treated for glaucoma as well when she was nine years old. She was diagnosed with SWS based on her medical history, grossly visible PWS, and neuroimaging findings. Treatment is mostly symptomatic, as no definitive treatment is yet available.
斯特奇-韦伯综合征(SWS)是一种罕见的神经皮肤血管疾病,其特征为一种称为葡萄酒色斑(PWS)的面部胎记、眼部异常以及脑部血管异常。它本质上是一种多系统疾病,可累及神经系统、皮肤和眼睛( phakomatosis)。我们报告一例14岁女性病例,该患者因上唇肿胀到门诊就诊。她自出生起左侧面部就有明显的葡萄酒色斑,且已延伸至右侧面部。她曾有两次阵发性偏瘫发作,间隔时间为四年。此外,她三岁时被诊断出患有癫痫。她九岁时还接受过青光眼治疗。根据她的病史、明显可见的葡萄酒色斑以及神经影像学检查结果,她被诊断为斯特奇-韦伯综合征。由于目前尚无确切的治疗方法,治疗主要是对症治疗。