脂褐质沉积症的色素变体。

Pigment variant of lipofuscinosis.

作者信息

Jervis G A, Pullarkat R K

出版信息

Neurology. 1978 May;28(5):500-3. doi: 10.1212/wnl.28.5.500.

DOI:10.1212/wnl.28.5.500

Abstract

A woman had a progressive neurologic syndrome beginning at age 3 and lasting for three decades. Clinical manifestations included severe mental deterioration, spastic paralysis, myoclonus, and tremors. A postmortem examination showed ubiquitous infiltration of neurons by lipofuscin and deposits of pigment in the globus pallidus and substantia nigra, as well as senile changes of nerve cells. Biochemical investigation of brain lipids showed an alteration of fatty acid composition of serine phosphoglycerides.

摘要

一名女性自3岁起出现进行性神经综合征，持续了三十年。临床表现包括严重的智力衰退、痉挛性瘫痪、肌阵挛和震颤。尸检显示神经元普遍被脂褐素浸润，苍白球和黑质有色素沉着，以及神经细胞的老年变化。对脑脂质的生化研究表明丝氨酸磷酸甘油酯的脂肪酸组成发生了改变。