title: Expanding the differential diagnosis of inherited neuropathies with non-uniform conduction: Andermann syndrome.
abstract: 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.
authors.affiliation: Department of Neurosciences and Behavior Neurosciences, School of Medicine of Ribeirão Preto, University of São Paulo, Av. Bandeirantes 3900, São Paulo, Brazil.
authors.forename: Charles M
authors.initials: CM
authors.lastname: Lourenço
authors.forename: Nicolas
authors.initials: N
authors.lastname: Dupré
authors.forename: Jean-Baptiste
authors.initials: JB
authors.lastname: Rivière
authors.forename: Guy A
authors.initials: GA
authors.lastname: Rouleau
authors.forename: Vanessa D
authors.initials: VD
authors.lastname: Marques
authors.forename: Adriana B
authors.initials: AB
authors.lastname: Genari
authors.forename: Antonio C
authors.initials: AC
authors.lastname: Santos
authors.forename: Amilton A
authors.initials: AA
authors.lastname: Barreira
authors.forename: Wilson
authors.initials: W
authors.lastname: Marques
mesh_terms: D061085:Agenesis of Corpus Callosum / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D010523:Peripheral Nervous System Diseases / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology*; D027981:Symporters / Q000235:genetics; D055815:Young Adult; D000096922:K Cl- Cotransporters
chemical_list: D027981:Symporters; C119650:SLC12A6 protein, human; D000096922:K Cl- Cotransporters