Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome

Autor(es)

Lourenco, Charles M. ; Dupre, Nicolas ^[1] ; Riviere, Jean-Baptiste ^[2] ; Rouleau, Guy A. ^[2] ; Marques, Vanessa D. ; Genari, Adriana B. ; Santos, Antonio C. ^[3] ; Barreira, Amilton A. ; Marques, Jr., Wilson ^[4]

Afiliação do(s) autor(es)

^[1] Univ Laval, Fac Med, CHAUQ Enfant Jesus, Dept Neurol Sci, Quebec City, PQ G1K 7P4 - Canada

^[2] Univ Montreal, Dept Med, Montreal, PQ H3C 3J7 - Canada

^[3] Univ Sao Paulo, Sch Med Ribeirao Preto, Dept Internal Med, BR-14049900 Sao Paulo - Brazil

^[4] Univ Sao Paulo, Fac Med Ribeirao Preto, Sch Med Ribeirao Preto, Dept Neurosci & Behav Neurosci, BR-14049900 Sao Paulo - Brazil

• Tipo de documento: Artigo Científico
• Fonte: JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM; v. 17, n. 1, p. 123-127, MAR 2012.
• Citações Web of Science: 5

Resumo

Uniform conduction slowing has been considered a characteristic of inherited demyelinating neuropathies. We present an 18-year-old girl, born from first cousins, that presented a late motor and psychological development, cerebellar ataxia, facial diplegia, abnormal eye movement, scoliosis, and corpus callosum agenesis, whose compound muscle action potentials were slowed and dispersed. A mutation was found on KCC3 gene, confirming Andermann syndrome, a disease that must be included in the differential diagnosis of inherited neuropathies with non-uniform conduction slowing. (AU)

• Processo FAPESP: 06/05036-0 - Caracterização do perfil genotípico de uma população brasileira com neuropatia hereditária sensitivo-motora
• Beneficiário: Wilson Marques Junior
• Modalidade de apoio: Auxílio à Pesquisa - Regular