CMT associated with syringomyelia revealed by urinary disorders

[Guest guest]

Ann Readapt Med Phys. 2005 Apr;48(3):146-9.

Charcot-Marie-Tooth disease associated with syringomyelia revealed by

urinary disorders.

Lassalle A, Durufle A, Le Tallec H, Laboute E, Kerdoncuff V, Plassat

R, Gallien P.

Service medecine physique et readaptation, CHU de Rennes, 2, rue

Henri-le-Guilloux, 35000 Rennes, France.

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.