神经元蜡样脂褐质沉积症2型

定义 英文原文（暂无中文）

A rare neuronal ceroid lipofuscinosis characterized by neurodevelopmental delay, impaired motor and language skills, progressive dementia, visual deterioration, extrapyramidal signs, progressive gait dysfunction, seizures and brain atrophy. It may present rarely with infantile (2-18 months), classically late infantile (2-4 years) and juvenile-onset (6-10 years). Infantile-onset and late infantile-onset patients are reported to have rapid disease progression leading to complete loss of motor function within 6 years and may be fatal, whereas juvenile onset patients were reported to have milder clinical features including mild learning disability, behavior abnormalities associated with dementia and progressive cognitive function regression. Extrapyramidal, cerebellar signs, retinal degeneration and vision loss may be observed later in the adulthood. This form is most frequently observed in Southern Europe.

别名

典型婴儿晚期神经元蜡样脂褐质沉积症

基本事实

遗传方式

常染色体隐性

发病年龄

婴儿期

患病率

<1 / 1 000 000

外部标识与链接