青少年神经元蜡样脂褐质沉积症的慢性形式。
The protracted form of juvenile neuronal ceroid-lipofuscinosis.
作者信息
Goebel H H, Pilz H, Gullotta F
出版信息
Acta Neuropathol. 1976 Dec 21;36(4):393-6. doi: 10.1007/BF00699645.
PMID:189559
Abstract
Clinical and ultrastructural findings consisting of curvilinear and fingerprint residual bodies, in a protracted juvenile form of NCL are reported from a woman who died at the age of 35 years. Homochrony and homotypy of her brother's illness emphasize intrafamilial similarities within subgroups of lysosomal disorders.
摘要
一名35岁去世的女性被报道患有晚期青少年型神经元蜡样脂褐质沉积症（NCL），其临床和超微结构表现包括曲线形和指纹状残余小体。她哥哥疾病的同源性和同型性强调了溶酶体疾病亚组内的家族内相似性。
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