具有不寻常临床和形态学特征的克拉伯病。
Krabbe's disease with unusual clinical and morphological features.
作者信息
Gullotta F, Pavone L, Mollica F, Grasso S, Valenti C
出版信息
Neuropadiatrie. 1979 Nov;10(4):395-400. doi: 10.1055/s-0028-1085341.
PMID:231748
Abstract
A progressive encephalopathy appeared in two sibs aged 7 and 5 months. The children died at 23 respectively 29 months of age. Autopsy of the second child disclosed a severe demyelination involving the whole brain. Only few globoid cells were identified. Ultrastructural and biochemical investigations confirmed the diagnosis of Krabbe's disease.
摘要
一名7个月大及一名5个月大的同胞兄妹出现进行性脑病。这两名儿童分别在23个月及29个月大时死亡。对第二名儿童进行尸检发现全脑存在严重脱髓鞘，仅发现少量球样细胞。超微结构和生化检查确诊为克拉伯病。
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