The authors demonstrate the observation of a female patient with congenital muscular dystrophy, manifested since infant age. They draw attention to the contribution of 31P MR spectroscopy of the skeletal muscle and in particular MR imaging and 1H MR spectroscopy of the brain for assessment of the diagnosis. These findings may have even a predictive value before accurate typing of the disease by molecular genetic examination.

        Key words: congenital muscular dystrophy - merosine deficiency - leukodystrophy - MR imaging - MR spectroscopy