Pilz P
Acta Neuropathol. 1977 Apr 29;38(1):73-6. doi: 10.1007/BF00691280.
A woman of 27 years without any family history developed a progressive spinocerebellar disorder and died 28 years later. The mean neuropathological findings were cerebello-olivary atrophy (late atrophy), degeneration of the dentate nuclei and brachia conjunctiva, degeneration of the pyramidal and psinocerebellar tracts and of the pars reticulata of substantia nigra. Findings according to Hallervorden-Spatz' disease were confined to the globus pallidus. Extensive calcification occurred in the cerebellar cortex and the dentate nuclei. Foci of atypical glia, glial ectopias, subependymal glial modules and focal neuromas were found in the brain. It is suggested that this unique case represents a combination of spinocerebellar degeneration and central neurofibromatosis.
一名27岁无家族病史的女性患上了一种进行性脊髓小脑疾病，28年后去世。神经病理学检查结果显示，主要表现为小脑橄榄萎缩（晚期萎缩）、齿状核和结合臂变性、锥体束和脊髓小脑束以及黑质网状部变性。符合哈勒沃登-施帕茨病的表现仅限于苍白球。小脑皮质和齿状核出现广泛钙化。大脑中发现了非典型神经胶质细胞灶、胶质异位、室管膜下胶质结节和局灶性神经瘤。提示这一独特病例代表了脊髓小脑变性和中枢性神经纤维瘤病的一种组合。
