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 ,推测此病可能是一种胶质细胞的溶酶体病 Objective To report the clinical and pathological changes of a dominant inherited pigmented anaplastic leukodystrophy family. Methods The brain, skin and muscle biopsies of the probands, as well as the local brain anatomy after death, were examined by histology, fluorescence microscopy and electron microscopy. Results The proband was a 39-year-old female patient with headache, progressive spastic paraplegia, bulbar paralysis and dementia. Late in the exercise can not stiff state, accompanied by incontinence and breathing difficulties, two years after the onset of death. MRI showed multifocal long T1 and long T2 signal lesions in the parietal lobe and frontal white matter. His uncle, father and two sisters also onset at 34-55 years old, with similar clinical manifestations and course of disease. The CT findings of the two sisters showed low density white matter lesions in the brain. Brain pathology is characterized by diffuse brain atrophy, diffuse demyelination of the parietal lobe and frontal lobe areas with astrogliosis, oligodendrocyte depletion and a small amount of phagocytic infiltration. Vascular layer â ... â ... â ... ¢ layer shows glial cell proliferation, glial cells and phagocytes filled with sediment particles. Electron microscopy showed that the deposits were membranous osmiophilic granules, lamellae and fingerprints. The same results were also found in brain biopsy specimens. Light and electron microscopic examination of skin and muscle showed no abnormalities. Conclusions The clinical and pathological changes suggest that this family is dominantly inherited pigmentary type of anastomotic leukodystrophy. As the lesion is mainly concentrated in glial cells of the white matter of the brain, the osmiophilic deposits deposited in the membranous membrane have the morphological characteristics of lysosomes, suggesting that the disease may be a glial cell lysosomal disease