摘要
目的 报道一个显性遗传性色素型正染性脑白质营养不良家族的临床和病理改变特点。方法 对先证者进行脑、皮肤和肌肉活检以及死亡后的脑局部解剖 ,标本进行组织学、荧光显微镜和电镜检查。结果 先证者为 39岁的女性病人 ,表现为头痛、进行性痉挛性截瘫、延髓性麻痹和痴呆 ,后期处于运动不能 僵直状态 ,伴随二便失禁和呼吸困难 ,发病后 2年死亡。MRI显示大脑顶叶和额叶白质多灶性长T1和长T2 信号病变。其叔叔、父亲和两个姐姐也在 34～ 5 5岁发病 ,具有相似的临床表现和病程经过 ,2个姐姐的CT检查均表现为大脑白质低密度病灶。脑病理特点为弥漫性脑萎缩 ,大脑顶叶和额叶病变区出现弥漫性脱髓鞘伴随星形胶质细胞增生、少突胶质细胞减少和出现少量吞噬细胞浸润。大脑皮层的Ⅴ～Ⅵ层可见胶质细胞增生 ,胶质细胞和吞噬细胞内充满颗粒沉积物。电镜检查显示沉积物为膜性包裹的嗜锇性颗粒体、板层体和指纹体 ,相同的结果也见于脑活检标本。皮肤和肌肉的光镜和电镜检查无异常。结论 临床和病理改变提示此家族为显性遗传性色素型正染性脑白质营养不良。由于病变主要集中在大脑白质的胶质细胞 ,膜性包裹的嗜锇性沉积物具有溶酶体的形态特点 。
Objective Autosomal dominant pigmentary type of orthochromatic leucodystrophy (POLD) is a rare disease characterized pathologically by demyelination and an appearance of pigmentary glial and scavenger cells in cerebral white matter. We reported a northern Chinese family with autosomal dominant POLD. Methods Brain,skin and muscle biopsies as well as brain postmortem examination were performed in proband patient. Results Proband patient,a 39-year-old woman suffered a progressive motor disturbance,dysarthria and dysphagia,accompanied with respiratory difficulty and incontinence. She died after a disease interval of 2 years. Her father,uncle and two sisters also died of similar symptoms. The onset of disease occurred in between 34～56 years old and had an interval of 1～4 years. CT showed periventrically multifocal hypodensity lesion in all three women. MRI showed multifocal lesions in parietal and frontal white matter and there appeared hypodensity on T 1 weighted scan and hyperdensity on T 2 weighted scan. Diffuse demyelination,disappearance of axons,appearance of macrophages,proliferation of astrocytes and decrease of oligodendrocytes were found in the parietal and frontal white matter. Macrophages and glial cells contained lipopigments,which ultrastructurally consisted of membrane bounded intracytoplasmatic inclusions with fingerprint pattern,curved or straight parallel arrangement. The same lipopigments were also observed in brain biopsy specimens,but not in muscle and skin tissues. Conclusion Clinical and neuropathological findings confirmed that this family should be a case of having autosomal dominant POLD. Because the pathological changes found predominantly in glial cells in white matter and the eosinophilic lipopigments in glial cells presented with morphological features of lysosomes,the POLD should be a glial lysosomal disorder.
出处
《中华神经科杂志》
CAS
CSCD
北大核心
2001年第3期159-161,W004,共4页
Chinese Journal of Neurology
