法伯病。眼部的光镜和电镜研究。

Farber's disease. Light and electron microscopic study of the eye.

作者信息

Zarbin M A, Green W R, Moser H W, Morton S J

出版信息

Arch Ophthalmol. 1985 Jan;103(1):73-80. doi: 10.1001/archopht.1985.01050010077025.

DOI:10.1001/archopht.1985.01050010077025

Abstract

A 35-month-old girl had Farber's disease (disseminated lipogranulomatosis) manifested clinically by macular cherry-red spots. The pathologic changes consisted of intracellular inclusions of varying morphologic features and density. The most frequently encountered inclusion was 1.2 micron wide and consisted of flattened stacks of osmophilic lamellae (2.1 to 2.3 nm thick, with 4.4-nm periodicity) oriented in parallel or oblique array ("zebra-body" configuration) and enclosed by a focally discontinuous unit membrane. Some of the inclusions contained curved tubular profiles resembling curvilinear tubular bodies. The retinal ganglion cells were grossly distended with inclusions and showed the greatest pathologic changes.

摘要

一名35个月大的女孩患有法伯病（播散性脂肪肉芽肿病），临床症状为黄斑樱桃红斑。病理变化包括具有不同形态特征和密度的细胞内包涵体。最常见的包涵体宽1.2微米，由扁平排列的嗜锇性板层（厚2.1至2.3纳米，周期为4.4纳米）组成，呈平行或倾斜排列（“斑马体”构型），并被局部不连续的单位膜包围。一些包涵体含有类似曲线管状小体的弯曲管状结构。视网膜神经节细胞因包涵体而明显肿胀，并表现出最严重的病理变化。