Association de maladie de Charcot-Marie-Tooth et de syringomyélie révélée par la survenue de troubles urinaires

Charcot-Marie-Tooth disease with co-occurrence of syringo-hydromyelia

“…This gene was identified in our patient. To our knowledge, there is only one previous report in the literature of the co-occurrence of CMT with syringomyelia or syringohydromyelia 8 . So, this could be the second such case.…”

Confounding clinical presentation and different disease progression in CMT4B1

“…Two cases of CMT1A associated with either an asymptomatic C2-C4 [17] or a T11-L1 syringomyelia and urinary disorders [18] have been reported to date. Furthermore, syringomyelia may be due to mutations in genes such as GDF6 (8q22),GDF3 (12p13) [19] or MEOX1 genes [20] related to Klippel-Feil syndrome.…”