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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 To investigate the clinical and pathological features of dominant hereditary pigmentary-type amyloid plaque malnutrition. Methods The brain and skin biopsies were performed on the patients. The specimens were examined by histology, fluorescence microscopy and electron microscopy. Results The patients showed progressive spastic paralysis, ball palsy, ataxia and dementia. Their mothers, uncles and two older brothers had similar clinical manifestations. MRI showed multifocal long T1 long T2 abnormal signals in the brain. Pathological features of brain tissue filled with glial cells filled with sediments, electron microscopy showed that the sediment is membranous wrapped osmiophilic particles, fingerprints and lamellar body. Skin light and electron microscopy examination without exception. Conclusions Clinical and pathological changes suggest that this case is in line with dominant hereditary pigmentary particles of anaplastic leukodystrophy.