关键词: 神经元蜡样质脂褐质沉积症, 癫痫, 视力障碍, 基因

Abstract:

Neuronal ceroid lipofuscinoses（NCL） is a rare neurodegenerative disease. The clinical manifestations of this disease are complex，mainly including multiple types of seizures，myoclonus，cognitive and motor delay or regressions；visual loss is common. Brain imaging indicates cerebral cortex and cerebellar atrophy. The clinical classification of NCL includes congenital，infantile，late-infantile，juvenile and adult types. Combined with the age of onset and genotype，the latest classification includes 14 types（CLN1-CLN14）. The genotype and phenotype of the disease are not fully matched. The approach to diagnosis should consider clinical features and age of onset. Related enzyme testing，genetic detection，skin and muscular pathological examination should be done for diagnosis. No effective treatment has been found so far，and the current treatment is mainly symptomatic.

Key words: neuronal ceroid lipofuscinoses, epilepsy, vision disorder, gene