F Gullotta, L Pavone, F Mollica, S Grasso, C Valenti
{"title":"Krabbe's disease with unusual clinical and morphological features.","authors":"F Gullotta, L Pavone, F Mollica, S Grasso, C Valenti","doi":"10.1055/s-0028-1085341","DOIUrl":null,"url":null,"abstract":"<p><p>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.</p>","PeriodicalId":76211,"journal":{"name":"Neuropadiatrie","volume":"10 4","pages":"395-400"},"PeriodicalIF":0.0000,"publicationDate":"1979-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://sci-hub-pdf.com/10.1055/s-0028-1085341","citationCount":"7","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Neuropadiatrie","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.1055/s-0028-1085341","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
引用次数: 7
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.