伴有脂肪组织膜性囊肿病变的硬化性白质脑病：对纳苏病病理学的贡献

Sclerosing leucoencephalopathy with membranocystic lesions of adipose tissue: a contribution to the pathology of Nasu disease.

作者信息

Koizumi T, Matsubara R, Kurachi M, Isaki K, Yamaguchi N, Nakanuma Y

出版信息

Folia Psychiatr Neurol Jpn. 1982;36(4):409-16. doi: 10.1111/j.1440-1819.1982.tb03113.x.

DOI:10.1111/j.1440-1819.1982.tb03113.x

Abstract

A case of sclerosing leucoencephalopathy with membranocystic lesions of adipose tissue was reported. A 38-year-old Japanese housewife, whose parents were consanguineous, developed gradually neuropsychiatric symptoms characterized by euphoria, gait disturbance and urinary incontinence, followed by spastic tetraplegia with epileptic convulsions and died eight years later. Neuropathologically a form of sudanophilic leucodystrophy with a prominent fibrillary gliosis (dissociation glio-myelinique) associated with axonal spheroids and calcospherite depositions was revealed. A peculiar membranocystic lesion of adipose tissue was recognized not only in the bone marrow but also in other areas. However, no apparent bone pathology was observed except for a ring-like pleated lamellar structure. This case was thought to be classified as heterogeneous phenotype of membranous lipodystrophy (Nasu).

摘要

报告了一例伴有脂肪组织膜性囊肿病变的硬化性白质脑病。一名38岁的日本家庭主妇，其父母为近亲结婚，逐渐出现以欣快、步态障碍和尿失禁为特征的神经精神症状，随后发展为伴有癫痫发作的痉挛性四肢瘫，并于八年后死亡。神经病理学显示为一种嗜苏丹性脑白质营养不良形式，伴有显著的纤维性胶质增生（胶质 - 髓鞘解离），与轴突球体和钙球沉积相关。不仅在骨髓中，而且在其他区域都发现了脂肪组织的一种特殊膜性囊肿病变。然而，除了环状褶皱层状结构外，未观察到明显的骨骼病变。该病例被认为可归类为膜性脂肪营养不良（那须氏病）的异质表型。