伴有多核结构的III型糖原贮积病。

Type III glycogenosis with multicore structures.

作者信息

Pellissier J F, de Barsy T, Faugere M C, Rebuffel P

出版信息

Muscle Nerve. 1979 Mar-Apr;2(2):124-32. doi: 10.1002/mus.880020207.

DOI:10.1002/mus.880020207

Abstract

A case of an infantile type III glycogenosis (Forbes disease), confirmed by morphologic and biochemical studies, had light-microscopic, histochemical, and electron-microscopic evidence of multicore structures and type 1 fiber predominance with hypotrophy. This association is discussed with relation to the unusual clinical findings. The authors conclude that two distinct disease entities--Forbes disease and multicore myopathy--may coexist.

摘要

一例经形态学和生化研究确诊的婴儿型III型糖原贮积病（福布斯病），有光镜、组织化学和电镜证据显示存在多核结构以及以1型纤维为主并伴有萎缩。结合不寻常的临床发现对这种关联进行了讨论。作者得出结论，两种不同的疾病实体——福布斯病和多核肌病——可能共存。