Annales de readaptation et de medecine physique : revue scientifique de la Societe francaise de reeducation fonctionnelle de readaptation et de medecine physique · 2005
[Charcot-Marie-Tooth disease associated with syringomyelia revealed by urinary disorders].
Клинический случайАннотация на английскомСтатьяНазвание и аннотация: Перевод в очереди
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Lassalle A, Durufle A, Le Tallec H, Laboute E, Kerdoncuff V, Plassat R, Gallien P
Аннотация
PURPOSE: 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.
CASE REPORT: 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.
DISCUSSION: 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.
CONCLUSION: Urinary signs in CMT disease are exceptional and require investigation into the possibility of a central lesion.
CASE REPORT: 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.
DISCUSSION: 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.
CONCLUSION: Urinary signs in CMT disease are exceptional and require investigation into the possibility of a central lesion.