Beiraghi Toosi Mehran, Akhondian Javad, Ashraf Zadeh Farah, Donyadideh Nahid, Javid Asma
Department of Pediatric Neurology, Ghaem Hospital, Mashhad University of Medical Sciences, Mashhad, Iran.
Iran J Child Neurol. 2018 Spring;12(2):113-116.
Wilson's disease (WD) is a rare autosomal recessive disease due to copper metabolism disturbance. The clinical presentation spectrum of Wilson's disease is wide and initial findings of the disease depend on the organ involved. Neurologic disorders can develop insidiously or precipitously with intention tremor, dysarthria, rigid dystonia, Parkinsonism, deterioration in school performance or behavioral changes. This article is presenting an 11-yr old boy with chief complaint of falling and upper limb spasm. He referred to the Neurology Department, Ghaem Hospital, Mashhad, northeastern Iran in 2016. His symptoms began from 6 months earlier as mood instability (prolonged spontaneous crying). He was also suffering from occasionally tremor and micrographia. Initial investigations were normal and with diagnosis of depression and psychiatric problems, he had undergone treatment with fluoxetine and risperidone. Wilson's disease should be considered in the diagnosis of all children with psychiatric and musculoskeletal symptoms.
威尔逊病(WD)是一种由于铜代谢紊乱引起的罕见常染色体隐性疾病。威尔逊病的临床表现范围广泛,疾病的初始表现取决于受累器官。神经系统疾病可能隐匿或突然出现,伴有意向性震颤、构音障碍、僵硬性肌张力障碍、帕金森综合征、学习成绩下降或行为改变。本文介绍了一名11岁男孩,主要主诉为跌倒和上肢痉挛。他于2016年转诊至伊朗东北部马什哈德的加姆医院神经科。他的症状始于6个月前,表现为情绪不稳定(长时间自发哭泣)。他还偶尔出现震颤和小写症。初步检查正常,由于诊断为抑郁症和精神问题,他接受了氟西汀和利培酮治疗。在诊断所有有精神和肌肉骨骼症状的儿童时,都应考虑威尔逊病。