不同临床表现的成人型神经元蜡样质脂褐质沉积征

目的 :报道 4例成人型神经元蜡样质脂褐质沉积症 (Kufs病 )的临床、超微结构及影像学特点。方法 :对 4例Kufs病患者进行临床、脑活检超微结构及影像学观察。结果 :4例患者中 3例为B型 ,1例为A型 ;均有不同程度的智力倒退和运动障碍 ,3例有精神障碍 ,1例有癫痫发作 ,1例有视力下降 ;超微结构检查有神经细胞萎缩和脂褐素体沉积 ;头颅MRI 2例未见异常 ,2例见颅内广泛病灶。结论 :Kufs病的诊断主要依据脑活检超微结构检查结果。

THE KUFS DISEASE WITH DIFFERENT MANIFESTATIONS

Objective:To report 4 cases of Kufs disease.Methods:The clinical manifestations,ultrastructural features of biopsied brain tissues and radiological changes were studied in 4 cases of Kufs disease.Results:Three of the four cases were B type,and one was A type.All presented with mental defect and motor difficulty,three with psychological signs,one with epiletic seizures and one with visual defect.Ultrastructural study showed neurons and all with lipofuscin deposit.Tow cases showed neural cerebral MRI,tow with exteusive foci.Conclusions:The diagnosis of Kufs disease depends on its clinical manifestations,ultrastrucural features and radiological changes.