Pathology of peripheral nerves in metachromatic leucodystrophy. A comparative study of ten cases.
Results of qualitative and quantitative studies on 1 to 13 peripheral nerves from 10 cases (6 late infantile, 2 juvenile and 2 adult cases) of metachromatic leucodystrophy (MLD) are reported. Peripheral nerve biopsies are still useful despite the arylsulphatase A assays on leucocytes and cultured fibroblasts, since they provide extremely rapid and reliable diagnostic information. The following points are investigated: (1) are there differences in the severity and characteristics of demyelination according to MLD subtypes; (2) are there major differences in various nerves of one patient; (3) are some inclusions characteristic of a given MLD subtype; (4) is there a direct relationship between demyelination and storage of characteristic inclusions? While question 1 can be answered positively, the three following ones must receive a negative or at best an equivocal answer.
D000328:Adult; D001369:Axons / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007223:Infant; D007966:Leukodystrophy, Metachromatic / Q000473:pathology*; D008297:Male; D008853:Microscopy; D008854:Microscopy, Electron; D008875:Middle Aged; D009186:Myelin Sheath / Q000473:pathology; D009413:Nerve Fibers, Myelinated / Q000473:pathology; D010525:Peripheral Nerves / Q000473:pathology*; D011247:Pregnancy