Refsum's disease may mimic familial Guillain Barre syndrome.

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.

• Authors: Christophe Verny, Adriana Prundean, Guillaume Nicolas, Vivien Pautot, Dominique Maugin, Thierry Levade, Dominique Bonneau, Frederic Dubas
• Journal: Neuromuscular disorders : NMD (Neuromuscul Disord) Vol. 16 Issue 11 Pg. 805-8 (Nov 2006) ISSN: 0960-8966 [Print] England
• PMID: 16934464 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Phytanic Acid

Topics

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