Pathology of peripheral nerves in metachromatic leucodystrophy. A comparative study of ten cases

J Neurol Sci. 1982 Jan;53(1):95-112. doi: 10.1016/0022-510x(82)90084-3.

Abstract

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.

Publication types

  • Case Reports
  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Axons / pathology
  • Child
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Leukodystrophy, Metachromatic / pathology*
  • Male
  • Microscopy
  • Microscopy, Electron
  • Middle Aged
  • Myelin Sheath / pathology
  • Nerve Fibers, Myelinated / pathology
  • Peripheral Nerves / pathology*
  • Pregnancy