Qatza Ayham, Almohamed Ahmad, Alassaad Rima, Karaja Saja, Hamsho Ghina, Alassad Ghiath
Faculty of Medicine, Hama University, Hama, Syrian Arab Republic.
Department of Gastroenterology, National Hama Hospital, Hama, Syrian Arab Republic.
J Int Med Res. 2025 Apr;53(4):3000605251328574. doi: 10.1177/03000605251328574. Epub 2025 Apr 11.
Patients with Wilson's disease, an autosomal recessive disorder caused by mutations, present with hepatic and neurological symptoms, including tremors, chorea, personality changes, and rare manifestations such as neuropathy, autonomic dysfunction, headache, and epilepsy. This report describes the case of a 14-year-old man born to consanguineous parents who presented with focal seizures and oromandibular dystonia. A neurological exam revealed left upper limb hypotonia. An electroencephalogram showed right hemisphere epileptiform activity, and magnetic resonance imaging indicated bilateral basal ganglia hyperintensities. An ophthalmological exam revealed an incomplete Kayser-Fleischer ring. Laboratory tests confirmed Wilson's disease with low serum ceruloplasmin (3 mg/dL) and elevated urinary copper excretion (1226 mcg/24 h) levels. Treatment included penicillamine (250 mg/day) and zinc (50 mg bi-daily), along with clonazepam for seizures. Routine follow-ups were recommended. This case highlights the importance of recognizing neurological presentations in patients with Wilson's disease for timely diagnosis and management.
威尔逊病是一种由基因突变引起的常染色体隐性疾病，患者会出现肝脏和神经症状，包括震颤、舞蹈症、性格改变，以及诸如神经病变、自主神经功能障碍、头痛和癫痫等罕见症状。本报告描述了一名14岁男性患者的病例，该患者父母为近亲结婚，他出现了局灶性癫痫发作和口下颌肌张力障碍。神经系统检查显示左上肢肌张力减退。脑电图显示右半球癫痫样活动，磁共振成像显示双侧基底神经节高强度信号。眼科检查发现凯泽-弗莱舍尔环不完整。实验室检查确诊为威尔逊病，血清铜蓝蛋白水平低（3毫克/分升），尿铜排泄量升高（1226微克/24小时）。治疗包括青霉胺（250毫克/天）和锌（50毫克，每日两次），以及用于癫痫发作的氯硝西泮。建议进行常规随访。该病例强调了认识威尔逊病患者神经症状表现对于及时诊断和治疗的重要性。
