title: 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.affiliation: Centre national de référence des maladies neurogénétiques et cytopathies mitochondriales de l'adulte, Centre Hospitalier Universitaire, Angers, France. chverny@chu-angers.fr
authors.forename: Christophe
authors.initials: C
authors.lastname: Verny
authors.forename: Adriana
authors.initials: A
authors.lastname: Prundean
authors.forename: Guillaume
authors.initials: G
authors.lastname: Nicolas
authors.forename: Vivien
authors.initials: V
authors.lastname: Pautot
authors.forename: Dominique
authors.initials: D
authors.lastname: Maugin
authors.forename: Thierry
authors.initials: T
authors.lastname: Levade
authors.forename: Dominique
authors.initials: D
authors.lastname: Bonneau
authors.forename: Frederic
authors.initials: F
authors.lastname: Dubas
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D005260:Female; D020275:Guillain-Barre Syndrome / Q000175:diagnosis* / Q000473:pathology; D006801:Humans; D010375:Pedigree; D010831:Phytanic Acid / Q000097:blood; D012035:Refsum Disease / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology
chemical_list: D010831:Phytanic Acid