Acta Neuropathologica

, Volume 83, Issue 6, pp 670–674

An unusual demyelinating neuropathy in a patient with Waardenburg's syndrome

  • J. M. Jacobs
  • J. Wilson
Case Reports

Summary

We present clinical and laboratory data from a patient with Waardenburg's syndrome type II comprising iris heterochromia and deafness, complicated by Hirschsprung's disease — a known association -and an unusual demyelinating peripheral neuropathy — a unique association. The neuropathy is characterised by excessive focal folding of myelin sheaths. It is our view that, although both disorders could represent the consequences of neural crest embryopathy, it is more likely that they are associated by chance.

Key words

Waardenburg's syndrome type II Hirschsprung's disease Demyelination Hereditary motor and sensory neuropathy Myelin sheath folding 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Copyright information

© Springer-Verlag 1992

Authors and Affiliations

  • J. M. Jacobs
    • 1
  • J. Wilson
    • 2
  1. 1.Department of NeuropathologyInstitute of NeurologyLondonUK
  2. 2.Department of NeurologyHospital for Sick ChildrenLondonUK

Personalised recommendations