Compartment syndrome is usually traumatic in origin, leading to muscle tissue damage with secondary necrosis, linked to hyperpressure and the resulting oedema. English and Dutch clinicians report the observations of three patients in whom the final diagnosis of genetic myopathy was made in this context:
- in one case, it was a myopathy with mutations in the RYR1 gene and in the other two, in the PYGM gene (corresponding to McArdle myopathy),
- the clinical picture was one of recurrent compartment syndrome in the legs and/or forearms,
- some of which led to decompression surgery,
- a review of the literature revealed 14 other similar cases.
The authors conclude that genetic studies should be undertaken in all cases of recurrent compartment syndrome.
