Résumé :
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Introduction. Mutations in the FKRP gene result in a wide spectrum of clinical conditions ranging from of congenital muscular dystophy (MDC1C) to a milder form of limb girdle muscular dystrophy (LGMD2I). Both intelligence and brain imaging have been previously reported as normal in FKRPrelated muscular dystrophy, except in rare cases presenting with CNS involvement. Patients and results.We studied cerebral MRI in three unrelated children, aged 4-6 years, with congenital muscular dystrophy, FKRP gene mutations and moderate mental retardation. Brain MRI in the first patient with moderate muscular phenotype showed structural abnormalities of the posterior fossa with hypoplasia of the cerebellar vermis and pons, multiple cerebellar hemispheric cysts, and abnormal white matter signal in the cerebellum and periventricular region. Moderate unilateral vermis hypoplasia with few cerebellar cysts, mild pontine hypoplasia, and left temporal atrophy were seen in the second case which had mild clinical picture. The last child had normal neuroimaging and severe phenotype. Conclusion: Bain changes are common features in our patients with FKRP-related muscular dystrophy presenting in the neonatal period. the cerebellar cysts seem to be associated with vermis and pons hypoplasia. They show no correlation with clinical features. Posterior fossa defect may be associated with mental disturb.
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