Peripheral neuropathy with hypomyelinating features in adult-onset Krabbe's disease

Neuromuscul Disord. 2002 May;12(4):386-91. doi: 10.1016/s0960-8966(01)00285-1.

Abstract

We describe three brothers suffering from Krabbe's disease with onset in the fifth decade. The proband showed a complete deficiency of leukocyte enzyme galactocerebrosidase and was found to be heterozygous for two previously described mutations: G > A809 and 502T/del consisting of a 30 kb deletion. In all three brothers the neurological examination showed features of asymmetrical peripheral neuropathy associated with pyramidal signs and the electrophysiological examination showed a generalized slowing of nerve conduction velocities. Two patients died at 59 and 61 years of age due to respiratory failure. Both the proband and his brother underwent a sural nerve biopsy. In the former the most striking finding was the presence of uniformly thin myelin sheaths without evidence of demyelination; a complete absence of fibers was found in the latter. Our findings confirm that peripheral neuropathy may be the presenting feature of late-onset Krabbe's disease. Hypomyelination rather than demyelination may represent the distinguishing pathological finding of this condition.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adult
  • Age of Onset
  • Biopsy
  • Family Health
  • Humans
  • Leukodystrophy, Globoid Cell / complications*
  • Male
  • Microscopy, Electron
  • Middle Aged
  • Myelin Sheath / pathology*
  • Myelin Sheath / ultrastructure
  • Nuclear Family
  • Peripheral Nervous System Diseases / complications*
  • Peripheral Nervous System Diseases / pathology
  • Sural Nerve / pathology
  • Sural Nerve / ultrastructure