title: [Charcot-Marie-Tooth disease associated with syringomyelia revealed by urinary disorders].
abstract: OBJECTIVE
  Charcot-Marie-Tooth (CMT) disease is characterized by genetic and clinical heterogeneity. The occurrence of urinary disorders is unusual and requires further investigation. CMT disease and syringomyelia are not usually associated. Moreover, primary urinary signs in syringomyelia are not frequent.
  
  
  METHODS
  An 11-year-old girl with CMT disease 1A duplication presented with motor deficit of the leg associated with urinary disorders. Urodynamic study revealed neurogenic detrusor overactivity, and magnetic resonance imaging confirmed syringomyelia extending from T11 to an L1 located conus.
  
  
  CONCLUSIONS
  Review of the literature confirmed the possibility of primary urinary signs in syringomyelia, with only one case of CMT and urinary signs described. In this case, the diagnosis was radicullar and medullar compression by a hypertrophic nerve formation called an "onion bulb" reflecting the demyelinisation and remyelinisation cycle.
  
  
  CONCLUSIONS
  Urinary signs in CMT disease are exceptional and require investigation into the possibility of a central lesion.
authors.affiliation: Service médecine physique et réadaptation, CHU de Rennes, 2, rue Henri-le-Guilloux, 35000 Rennes, France.
authors.forename: A
authors.initials: A
authors.lastname: Lassalle
authors.forename: A
authors.initials: A
authors.lastname: Durufle
authors.forename: H
authors.initials: H
authors.lastname: Le Tallec
authors.forename: E
authors.initials: E
authors.lastname: Laboute
authors.forename: V
authors.initials: V
authors.lastname: Kerdoncuff
authors.forename: R
authors.initials: R
authors.lastname: Plassat
authors.forename: P
authors.initials: P
authors.lastname: Gallien
mesh_terms: D002607:Charcot-Marie-Tooth Disease / Q000150:complications*; D002648:Child; D005260:Female; D006801:Humans; D013595:Syringomyelia / Q000150:complications* / Q000175:diagnosis*; D014555:Urination Disorders / Q000209:etiology*; D014563:Urodynamics