显性遗传性色素颗粒型正染性脑白质营养不良(附一例报告)

Autosomal dominant pigmentary type of orthochromatic leukodstrophy with one case report

目的探讨显性遗传性色素颗粒型正染性脑白质营养不良的临床和病理改变特点。方法对患者进行脑、皮肤活检,标本进行组织学、荧光显微镜和电镜检查。结果患者表现为进行性痉挛性瘫痪、球麻痹、共济失调及痴呆,其母亲、舅舅及2个哥哥均有类似临床表现。MRI显示脑内多灶性长T1长T2异常信号。脑组织病理特点为胶质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、指纹体和板层体。皮肤的光镜和电镜检查无异常。结论临床和病理改变提示本例符合显性遗传性色素颗粒型正染性脑白质营养不良。

Objective A case of Autosomal dominant pigmentary type of orthochromatic leukodstrophy(POLD) was reported. Methods Brain and skin examination were performed for this patient. Results The patient , a 49-year-old woman suffered form progressive motor disturbance, bulbar paralysis, dystaxia and dementia. Her mother, one uncle and two brothers also suffered the similar symptoms. MRI showed multifocal lesions in the brain and there appeared hypodensity on T1 weighted scan and hyperdensity on T2 weighted scan. Glial cells contained lipopigments,which ultrastructurally consisted of membrane bounded intracytoplasmatic inclusions with fingerprint pattern, curved or straight parallel arrangement in brain biopsy specimens,but not in skin tissues. Conclusions Clinical and neuropatholoical findings confirmed that this case should be a POLD.