Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings

Congenital muscular dystrophies (CMD) are heterogenous group of muscle disorders with autosomal recessive inheritance. Merosin deficiency has been identified in some patients with CMD all of whom also had white matter abnormalities on MRI. In postmortem studies, the brain showed extensive myelin pallor with a spongy appearance of white matter and moderate astrocytosis or demyelination. Direct assessment of neuropathologic aspects of MN-CMD such as demyelination is possible with MR spectroscopy (MRS). Although previous reports have described several neuro-imaging findings of this disease, MRS findings have not been reported in literature. In this case, we report MRS features of a 4-year old girl with MN-CMD. MRS of brain demonstrated that N-acetylaspartate (NAA)/Creatine (Cr) ratio was normal. Increased Choline (Cho)/Cr and Myo-inositol (MI)/Cr ratios were obtained. These findings were interpreted as demyelination and gliosis of white matter.