不同类型神经元蜡样质脂褐质沉积症的超微结构特征

THE ULTRASTRUCTURAL FEATURES OF DIFFERENT TYPE OF NEURONAL CEROID LIPOFUSCINOSIS.

为了探讨不同类型神经元蜡样质脂褐质沉积症的超微结构特征，对１３例患者取右额叶脑组织进行了电镜检查。其中婴儿型、晚婴儿型各２例、青少年型８例、成年型１例。常见的临床表现包括智力减退、视力进行性下降、抽搐和运动障碍。电镜下婴儿型神经元胞浆内的沉积物主要为脂褐素体、偶见指纹体，晚婴儿型主要为曲线体，青少年型为大量指纹体和脂褐素体，成年型主要为脂褐素体伴少量指纹体。根据起病年龄、临床表现和超微结构改变可鉴别各型。

To study the characteristics of each type of neuronal ceroid lipofuscinosis,13 cases were investigated by brain biopsy with light and electron microscopes,Among these cases,two were of the infantile type;two of the late infantile type;eight of the,juvenile type;and one of the adult type.The common clinical manifestations included dementia,blindness,seizures and motor impairment.At ultrastructural level,osmiophilic granular inclusion deposits were found in all types,especially in the infantile and adult types.Apart from osmiophilic granular inclusion,fingerprint body deposits were observed.in the juvenile and adult types,rarely in infantile type.Curvilinear body deposits were viewed only in late infantile type.Each type could be identified according to the age of onset,clinical features and ultrastructural changes.