[Krabbe's disease (globoid cell leukodystrophy). Apropos of 5 cases].
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.
Rosemberg
S
S
Departamento de Pediatria (Disciplina de Neuropediatria), Faculdade de Medicina da Santa Casa de São Paulo, Brasil.
Kliemann
S E
SE
Arita
F N
FN
D005260:Female; D006801:Humans; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000134:cerebrospinal fluid / Q000175:diagnosis* / Q000503:physiopathology; D008297:Male; D013497:Sural Nerve / Q000648:ultrastructure
Doença de Krabbe (leucodistrofia a células globóides). A propósito de cinco observações.