[Charcot-Marie-Tooth disease associated with syringomyelia revealed by urinary disorders].
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.
Lassalle
A
A
Service médecine physique et réadaptation, CHU de Rennes, 2, rue Henri-le-Guilloux, 35000 Rennes, France.
Durufle
A
A
Le Tallec
H
H
Laboute
E
E
Kerdoncuff
V
V
Plassat
R
R
Gallien
P
P
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