[Globoid cell leucodystrophy (Krabbe's disease). Peripheral nerve lesion (author's transl)].
Morphological study of peripheral nerves in two patients with globoid cell leucodystrophy (Krabbe's disease) demonstrates: 1degree segmentary demyelination; 2degrees marked loss of large (8-10 micra) myelinated fibres; 3degrees significant increase of the mean transverse fascicular area by proliferating collagen fibres; 4degrees electron-microscopic signs of remyelination with small onion-bulb formations. These findings can explain clinical features such as the disappearance of the deep tendon reflexes, the gradual transition of hypertonia into combined hypertonia-hypotonia and the concomitant slowing of nerve conduction velocity. The ultrastructural study reveals the presence of large and small inclusions which are either located within lysosomes or free in the cytoplasm of Schwann cells and fibroblasts. The inclusions are probably consequences of the disturbed metabolism of cerebrosides. Their appearance is sufficiently specific in order to allow a diagnosis of Krabbe's disease.
D001369:Axons / Q000648:ultrastructure; D002452:Cell Count; D002478:Cells, Cultured; D002675:Child, Preschool; D003094:Collagen; D003711:Demyelinating Diseases / Q000473:pathology; D005260:Female; D005347:Fibroblasts / Q000473:pathology; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007223:Infant; D007965:Leukodystrophy, Globoid Cell / Q000201:enzymology / Q000473:pathology*; D008297:Male; D009186:Myelin Sheath / Q000648:ultrastructure; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D010375:Pedigree; D010525:Peripheral Nerves / Q000473:pathology* / Q000648:ultrastructure; D012867:Skin / Q000648:ultrastructure
D003094:Collagen
Leucodystrophie à cellules globoïdes (maladie de Krabbe). Lésions nerveuses périphériques