Rosemberg S, Kliemann S E, Arita F N
Departamento de Pediatria (Disciplina de Neuropediatria), Faculdade de Medicina da Santa Casa de São Paulo, Brasil.
Arq Neuropsiquiatr. 1992 Sep;50(3):334-42. doi: 10.1590/s0004-282x1992000300013.
A clinical study on five cases of Krabbe's disease (globoid cell leukodystrophy) was performed. A final diagnosis was done either with post-mortem study (two cases) or by enzymatic assays carried on cultured fibroblasts (two cases). Peripheral nerve biopsy for electron microscopy was performed in all cases, and the ultrastructural alterations characteristics of Krabbe's disease were always found. The authors emphasize the suggestive clinical and laboratory data which enable the diagnosis of Krabbe's disease in the absence of the ultrastructural exam of peripheral nerve, or the enzymatic assays not performed in this country.
对5例克拉伯病(球形细胞脑白质营养不良)进行了临床研究。最终诊断通过尸检研究(2例)或对培养的成纤维细胞进行酶分析(2例)完成。所有病例均进行了外周神经活检以进行电子显微镜检查,并且总是能发现克拉伯病的超微结构改变特征。作者强调了具有提示性的临床和实验室数据,这些数据能够在未进行外周神经超微结构检查或该国未进行酶分析的情况下诊断克拉伯病。