Wilson's disease: A clinico-neuropathological autopsy study
Wilson's disease: A clinico-neuropathological autopsy study
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DOI：
10.1016/j.jocn.2006.07.017
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发表时间：
2008-04-01
影响因子：
2
通讯作者：
Shankar, S. K.
中科院分区：
文献类型：
--
作者：
Meenakshi-Sundaram, S.;Mahadevan, A.;Shankar, S. K.
威尔逊氏病（WD）是一种继发于铜代谢改变的家族性神经系统疾病，累及大脑和肝脏，常见于南印度。鉴于对这种情况的研究较少，我们在尸检中详细研究了8例WD的病理形态学特征（仅脑1例；脑和肝脏活检1例；脑和内脏器官活检6例），并讨论了神经和肝脏形式的差异特征。在表现为神经系统症状的6例患者中，5例有脑桥中央髓鞘溶解，5例有皮层下白质空化，4例有皮膜软化，6例有可变心室扩张，与肝型不同。欧泊斯基细胞和脑桥髓鞘溶解的存在似乎是神经性WD特有的。所有病例均出现肝脏异常（肝硬化6例；脂肪变性4例；慢性活动性肝炎2例）。与标题“肝豆状核变性”相反，豆状核的受累并不普遍，病理也不局限于这些解剖区域。(C) 2007 Elsevier Ltd.版权所有。
Wilson's disease (WD), a familial neurological disorder involving the brain and liver secondary to altered copper metabolism, is common in South India. In view of the paucity of studies on this condition, the pathomorphological features of eight cases of WD were studied in detail at autopsy (brain alone, 1; brain and liver biopsy, 1; brain and visceral organs, 6), and are described with a discussion of the differential features of the neurological and hepatic forms. Of the six patients presenting with neurological manifestations, five had central pontine myelinolysis, five had subcortical white matter cavitations, four had putaminal softening, and six had variable ventricular dilatation, unlike the hepatic form. The presence of Opalski cells and pontine myelinolysis appear to be specific to the neurological form of WD. Liver abnormalities were observed in all cases (cirrhosis, 6; steatosis, 4; chronic active hepatitis, 2). Contrary to the rubric 'hepatolenticular degeneration', involvement of the lenticular nucleus was not universal, and nor was the pathology restricted to these anatomical areas. (C) 2007 Elsevier Ltd. All rights reserved.