Refsum's disease may mimic familial Guillain Barre syndrome

Neuromuscul Disord. 2006 Nov;16(11):805-8. doi: 10.1016/j.nmd.2006.07.001. Epub 2006 Aug 23.

Abstract

Refsum's disease is a rare autosomal recessive disorder with clinical features including retinitis pigmentosa, anosmia, deafness, chronic sensory-motor neuropathy, ataxia and the accumulation of phytanic acid in blood plasma and body tissues. We report the occurrence of Refsum's disease in two sisters, both presenting with acute demyelinating polyneuropathy mimicking the familial Guillain Barre syndrome. Thus, when GBS is suspected, particularly in cases of familial recurrence as well as in atypical cases of acute polyneuropathy, the diagnosis of Refsum's disease should be considered, looking for other features of the disease and, if appropriate, testing plasma phytanic acid levels.

Publication types

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

MeSH terms

  • Adult
  • Diagnosis, Differential
  • Female
  • Guillain-Barre Syndrome / diagnosis*
  • Guillain-Barre Syndrome / pathology
  • Humans
  • Pedigree
  • Phytanic Acid / blood
  • Refsum Disease / diagnosis*
  • Refsum Disease / genetics
  • Refsum Disease / pathology

Substances

  • Phytanic Acid