神经元蜡样脂褐质沉积症 (ＮＣＬ)是一组以脂褐质在细胞内沉积为特征的遗传性进行性神经变性疾病。典型的青少年型ＮＣＬ表现为 5～8岁出现失明、进行性精神运动发育迟缓、癫痫、锥体外系体征及行为失常。癫痫通常始于8～ 1 3岁 ,全身性肌强直最常见 ,常可发展为继发性全身性肌 Neuronal Wax-Like Lipofuscinosis (NCL) is a group of hereditary progressive neurodegenerative diseases characterized by intracellular deposition of lipofuscin. Typical adolescent-type NCL manifests as blindness, progressive mental retardation, epilepsy, extrapyramidal signs, and behavioral disorders at age 5 to 8 years. Epilepsy usually starts at 8 to 13 years of age and is the most common form of generalized myotonia and can often develop as secondary body muscle