MRI quantitative muscle characterization in children with X-linked hypophosphatemia

Abstract

Introduction Children with X Linked Hypophosphatemia (XLH) suffer from carential ricket, bone deformities and lameness. No previous study demonstrated a morphological distinction in muscles in these patients. The aim of this prospective study was to characterize, using Magnetic Resonance Imaging (MRI), the muscle morphology of pelvis, thigh and leg in children with XLH and to compare it with typically developed (TD) children. Hypothesis We hypothesized that lower limbs muscles in children with XLH are different from TD children and could explain limp walking. Material and methods Three-dimensional reconstructions of the muscles were performed in 11 patients with XLH and 15 TD children. Muscle lengths, sections and volumes were calculated and normalized with height and weight. Mean age was 10. Results Lengths were all smaller in children with XLH except for the Medius/minimus gluteus muscles (p = 0.64). The difference seemed higher in muscles with a long tendinous part as semitendinosus (0.139 vs 0,164; p < 0.01). All volumes were significantly inferior in children with XLH. This preliminary study showed significant differences in muscle structures between patients with XLH and TD children. Discussion Medius/minimus gluteus seemed to be particularly developed in children with XLH. Nevertheless it is not possible to conclude if it is related to XLH or a consequence of bone deformities.