Refsum's disease may mimic familial Guillain Barre syndrome.
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.
Verny
Christophe
C
Centre national de référence des maladies neurogénétiques et cytopathies mitochondriales de l'adulte, Centre Hospitalier Universitaire, Angers, France. chverny@chu-angers.fr
Prundean
Adriana
A
Nicolas
Guillaume
G
Pautot
Vivien
V
Maugin
Dominique
D
Levade
Thierry
T
Bonneau
Dominique
D
Dubas
Frederic
F
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
D010831:Phytanic Acid