成年型神经元蜡样质脂褐质沉积症的临床和病理特征

目的 报道2例成年型神经元蜡样质脂褐质沉积症(ANCL)临床特点和病理改变。方法 综合分析临床资料和病理结果。结果 患者临床表现为智能障碍、肌阵挛、运动障碍、行为异常及锥体外系症状。电镜下可见神经元及胶质细胞胞浆内有大量脂褐素体沉积。结论 根据起病年龄、临床表现及超微结构特征可诊断为成年型神经元蜡样质脂褐质沉积症，脑活检电镜检查是确诊本病的可靠方法。

The clinical and pathological features of adult neuronal ceroid lipofuscinosis

Objective To report the clinical features and pathological changes of two cases of adult neuronal ceroid lipofuscinosis(ANCL).Methods To analyse the clinical data and pathological result.Results The clinical signs of these two cases included dementia, myoclonic, motor dysfunction, behavior abnormalities and extrapyramidal signs. At ultrastructural level, a large quantity of lipofuscin granules accumulated in the neurons and the glial cells.Conclusion We can make diagnosis of ANCL according to age of onset, clinical manifestations and ultrastructural findings. Ultrastructural studies of the cerebral biopsy material are mandatory for definitive diagnosis.