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４例患者脑活检组织经组织化学和电镜检查，证实为ＧＭ２神经节苷脂沉积症。临床表现为发育停滞，精神运动衰退（３例），视力减退，视神经萎缩（３例），眼底樱桃色红点（１例），对声音有异常惊吓反应（１例），顽固性抽搐（２例），听觉减退、眼震、共济失调（各１例），锥体系征（４例）。电镜下见沉积物主要为膜性胞浆体、斑马体和类脂褐素体，有别于蜡样质脂褐质沉积症，脑组织的电镜检查对诊断ＧＭ２神经节苷脂沉积症有十分重要的价值。
Four patients with brain biopsy tissue histochemistry and electron microscopy confirmed GM2 ganglioside deposition disease. Clinical manifestations of developmental stagnation, mental deterioration (3 cases), vision loss, optic atrophy (3 cases), cherry red eyes (1 case), the sound abnormal shock reaction (1 case), refractory convulsions (2) Cases), hearing loss, nystagmus, ataxia (one case in each case) and conus system (four cases). Electron microscope, the sediment is mainly membranous cytoplasm, zebra body and lipofuscin body, different from the wax-like lipofuscinosis, electron microscopy of brain tissue for the diagnosis of GM2 gangliosidosis is very Important value.