Neuropathology of chronic vitamine E deficiency in fatal familial intrahepatic cholestasis
Neuropathology of chronic vitamine E deficiency in fatal familial intrahepatic cholestasis
复制标题
致死性家族性肝内胆汁淤积症慢性维生素 E 缺乏的神经病理学
DOI：
10.1007/bf00690800
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发表时间：
2004
影响因子：
12.7
通讯作者：
S. Kamoshita
中科院分区：
文献类型：
--
作者：
K. Saito;T. Yokoyama;M. Okaniwa;S. Kamoshita
一个进行性神经肌肉综合征的女孩患有致命的家族性肝内胆汁淤积症（拜勒病）。神经肌肉综合征包括腿部肌肉萎缩、高脚、反射消失、振动感下降、小脑症状、眼肌麻痹和视网膜色素变性视力障碍。血清维生素E水平极低。死后神经病理学检查显示以下病变：（1）全身性轴突病变，累及周围神经、背根神经节和后根的近端轴突以及中枢神经系统（CNS）的远端轴突。（2）脑干、基底节、Clarke氏柱、后角和背根神经节的感觉核和眼神经核的神经元缺失。(3)神经元脂褐质沉积症。轴索病变在更远的轴索节段中更易发生，尽管楔束比薄束更易受影响。神经元脂褐质沉积症的严重程度与神经元解体的严重程度无关。在营养不良肿胀轴突的电子致密体类似脂褐质颗粒。这些神经病理损害被认为是慢性维生素E缺乏的后遗症。
A progressive neuromuscular syndrome developed in a girl suffering from fatal familial intrahepatic cholestasis (Byler disease). The neuromuscular syndrome included muscular wasting of the legs, pes cavus, areflexia, decreased vibratory sensation, cerebellar symptoms, ophthalmoplegia, and visual disturbance with retinitis pigmentosa. The serum vitamin E level was extremely low. Postmortem neuropathologic study revealed the following lesions: (1) Systemic axonopathy involving the peripheral nerves and proximal axons of the dorsal root ganglia and posterior roots as well as the distal axons of the central nervous system (CNS) (2) Neuronal loss in the sensory and oculomotor nuclei of the brain stem, basal ganglia, Clarke's column, posterior horn, and dorsal root ganglia. (3) Neuronal lipofuscinosis. Axonopathy was severer in the more distal axonal segments, although the cuneate fasciculus was more affected than the gracile fasciculus. The severity of neuronal lipofuscinosis was not correlated with that of neuronal disintegration. The electron-dense bodies in the dystrophic swollen axons resembled lipofuscin granules. These neuropathologic lesions were considered to be the sequelae to chronic vitamin E deficiency.