Abstract
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.
Keywords
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Article info
Publication history
Accepted:
August 3,
2004
Received in revised form:
July 9,
2004
Received:
July 28,
2003
Identification
Copyright
© 2004 Elsevier B.V. Published by Elsevier Inc. All rights reserved.
