[An intermediate, generalized form of neuroaxonal dystrophy--light- and electron microscopic findings].

Acta histochemica. Supplementband Pub Date : 1992-01-01
J Lehmann, H H Goebel
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Abstract

This report concerns a 11-year-old girl--at the time of death--who developed normally until the age of 2 years when further psychomotoric maturation stopped and then regressed. The disease was diagnosed as neuroaxonal dystrophy (NAD) by sural nerve biopsy at the age of 7. Further course was characterized by complete loss of all motoric and sensory functions and dementia as well. Finally there was decerebration. The autopsy revealed generalized NAD associated with pallidal deposition of iron pigment to classify as generalized intermediate NAD type II according to Gilman and Barrett (1973). The main histological findings were axonal swellings and spheroids consisting ultrastructurally of membrano-tubular profiles, lamellar structures, vacuoles, glycogen granules and mitochondrial aggregates. Immunohistologically there was partial positive expression of synaptophysin and neurofilament protein in the spheroids. Firstly described electron microscopical findings in the retina include the typical axonal lesions largely in interior layers. Photoreceptors and their synaptic contacts were preserved. The present blindness is of the neuronal type. The current etiopathogenetic opinions, aspects of bioptic diagnosis and problems of classification of primary NADs are discussed.

[神经轴突营养不良的中间、一般形式——光镜和电镜发现]。
本报告涉及一名11岁女孩-- -死亡时-- -发育正常,直到2岁时进一步的精神运动成熟停止,然后倒退。7岁时经腓肠神经活检诊断为神经轴突营养不良(NAD)。进一步的病程表现为所有运动和感觉功能的完全丧失以及痴呆。最后是欢庆。尸检显示广泛性NAD与白斑铁色素沉积相关,Gilman和Barrett(1973)将其归类为广泛性中级NAD II型。主要组织学表现为轴突肿胀和由膜管状结构、板层结构、液泡、糖原颗粒和线粒体聚集体组成的超微结构球体。免疫组织学上,球体中突触素和神经丝蛋白部分阳性表达。首先描述了视网膜的电子显微镜发现,包括典型的轴突病变,主要在内层。光感受器及其突触接触被保留。目前的失明是神经性失明。本文就原发性nad的发病机理、活检诊断及分类等问题进行了综述。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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