威尔逊病的非典型神经影像学表现。
Atypical neuroimaging in Wilson's disease.
作者信息
Patell Rushad, Dosi Rupal, Joshi Harshal K, Storz Dennis
机构信息
Department of Medicine, Medical College Baroda, Vadodara, India.
Medical Faculty Mannheim, Heidelberg University, Mannheim, Germany.
出版信息
BMJ Case Rep. 2014 Jun 6;2014:bcr2013200100. doi: 10.1136/bcr-2013-200100.
Wilson's disease is a rare metabolic disease involving copper metabolism. Neuroimaging plays an important part in evaluation of patients with a neuropsychiatric presentation. We present a case of a 14-year-old girl with atypical confluent white matter disease and cystic degeneration on MRI, with a rapidly progressive course, who succumbed to complications despite treatment with trientine. Wilson's disease should be considered as a differential for leucoencephalopathy in young patients with progressive neurological disease for its early recognition and optimum outcome.
威尔逊病是一种涉及铜代谢的罕见代谢性疾病。神经影像学在评估有神经精神症状的患者中起着重要作用。我们报告一例14岁女孩，其MRI显示非典型融合性白质病和囊性变性，病程进展迅速，尽管接受了曲恩汀治疗，但仍死于并发症。对于患有进行性神经疾病的年轻患者，应将威尔逊病视为白质脑病的鉴别诊断之一，以便早期识别并获得最佳治疗效果。
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