Refsum's disease may mimic familial Guillain Barre syndrome

Autor(es): Verny Christophe,Prundean Adriana,Nicolas Guillaume,Pautot Vivien,Maugin Dominique,Levade Thierry,Bonneau Dominique,Dubas Frederic

Resumo: 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.

Palavras-Chave: Refsum; Guillian Barre; Hereditary neuropathy; Phytanic acid

Imprenta: Neuromuscular Disorders: NMD, v. 16, n. 11, p. 805-808, 2006

Identificador do objeto digital: 10.1016/j.nmd.2006.07.001

Descritores: Guillain-Barre Syndrome - Cytopathology ; Guillain-Barre Syndrome - Pathogenesis

Data de publicação: 2006