Krabbe's disease with unusual clinical and morphological features.
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.
D001253:Astrocytes / Q000648:ultrastructure; D001921:Brain / Q000473:pathology; D002675:Child, Preschool; D005260:Female; D005699:Galactosylceramides / Q000378:metabolism; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D008297:Male; D009186:Myelin Sheath / Q000648:ultrastructure; D013433:Sulfoglycosphingolipids / Q000378:metabolism
D005699:Galactosylceramides; D013433:Sulfoglycosphingolipids