神经元蜡样脂褐质沉积症10型

定义 英文原文（暂无中文）

A rare neuronal ceroid lipofuscinosis characterized by motor, cognitive and developmental regression with speech impairment, ataxia, limb weakness, visual impairment (notably retinitis pigmentosa), dysarthria and prosopagnosia. It may present with congenital (the most commonly observed form of the disease), late infantile (3 years) and juvenile-onset (4-8 years), and later stages into adulthood. Congenital form is associated with immediate postnatal onset of epileptic seizures, respiratory failure and limb hypertonia. Neonates have microcephaly with severe atrophy of the cerebrum and cerebellum with myelin deficiency, and retinal dysfunction.

别名

组织蛋白酶缺乏症

基本事实

遗传方式

常染色体隐性

发病年龄

成年期、产前、婴儿期

患病率

<1 / 1 000 000

外部标识与链接