斯特奇-韦伯综合征：一例报告。
Sturge-Weber Syndrome: A Case Report.
机构信息
Department of General Practice and Emergency Medicine, Shree Birendra Hospital, Chhauni, Kathmandu, Nepal.
Nepalese Army Institute of Health Sciences, Sanobharyang, Kathmandu, Nepal.
出版信息
JNMA J Nepal Med Assoc. 2023 Nov 1;61(267):890-892. doi: 10.31729/jnma.8344.
UNLABELLED
Sturge-Weber syndrome is a rare congenital neurocutaneous syndrome with an incidence of 1 in 50000 characterised by facial capillary malformation and vascular anomalies in the brain and eye. We present the case of a five-year-old child diagnosed with Sturge-Weber syndrome. The patient exhibited high-grade fever, headaches, and generalized tonic-clonic seizures. The history revealed a port-wine stain on the face and a history of seizures from the age of four months. Diagnostic imaging confirmed the presence of leptomeningeal vascular malformation, calcification in the brain, and abnormal electroencephalogram patterns, establishing the diagnosis of Sturge-Weber syndrome. Treatment with antiepileptic drugs led to seizure control. This case underscores the importance of early diagnosis and tailored treatment strategies for patients with Sturge-Weber syndrome.
KEYWORDS
brain; case reports; port-wine stain; seizures; Sturge-Weber syndrome.
未加标签
Sturge-Weber 综合征是一种罕见的先天性神经皮肤综合征，发病率为 1/50000，其特征为面部毛细血管畸形和脑、眼血管异常。我们报告了一例 5 岁儿童被诊断为 Sturge-Weber 综合征的病例。患者表现为高热、头痛和全身性强直阵挛性发作。病史显示面部有葡萄酒色斑和四个月大时的癫痫发作史。诊断性影像学检查证实存在软脑膜血管畸形、脑钙化和异常脑电图模式，从而确立了 Sturge-Weber 综合征的诊断。抗癫痫药物治疗导致癫痫发作得到控制。本病例强调了对 Sturge-Weber 综合征患者进行早期诊断和制定个体化治疗策略的重要性。
关键词
脑；病例报告；葡萄酒色斑；癫痫发作；Sturge-Weber 综合征。
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