Advertisement

Merosin-negative congenital muscular dystrophy: magnetic resonance spectroscopy findings

      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

      To read this article in full you will need to make a payment

      Purchase one-time access:

      Academic & Personal: 24 hour online accessCorporate R&D Professionals: 24 hour online access
      One-time access price info
      • For academic or personal research use, select 'Academic and Personal'
      • For corporate R&D use, select 'Corporate R&D Professionals'

      Subscribe:

      Subscribe to Brain and Development
      Already a print subscriber? Claim online access
      Already an online subscriber? Sign in
      Institutional Access: Sign in to ScienceDirect

      References

        • Farina L.
        • Morandi L.
        • Milanesi I.
        • Ciceri E.
        • Mora M.
        • Moroni I.
        • et al.
        Congenital muscular dystrophy with merosin deficiency: MRI findings in five patients.
        Neuroradiology. 1998; 40: 807-811
        • Gilhuis H.J.
        • Ten Donkelaar H.J.
        • Tanke R.B.
        • Vingerhoets D.M.
        • Zwarts M.J.
        • Verrips A.
        • et al.
        Nonmuscular involvement in merosin-negative congenital muscular dystrophy.
        Pediatr Neurol. 2002; 26: 30-36
        • Van der Knaap M.S.
        • Smith L.M.
        • Barth P.G.
        • Catsman-Berrevoets C.E.
        • Brouwer O.F.
        • Begeer J.H.
        • et al.
        Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities.
        Ann Neurol. 1997; 42: 50-59
        • Echenne B.
        • Pages M.
        • Marty-Double C.
        Congenital muscular dystrophy with cerebral white matter spongiosis.
        Brain Dev. 1984; 6: 491-495
        • Egger J.
        • Kendall B.E.
        • Erdohazi M.
        • Lake B.D.
        • Wilson J.
        • Brett E.M.
        Involvement of the central nervous system in congenital muscular dystrophies.
        Dev Med Child Neurol. 1983; 25: 32-42
        • Philpot J.
        • Cowan F.
        • Pennock J.
        • Sewry C.
        • Dubowitz V.
        • Bydder G.
        • et al.
        Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging.
        Neuromuscul Disord. 1999; 9: 81-85
        • Worton R.G.
        • Molnar M.J.
        • Brais B.
        • Karpati G.
        The muscular dystrophies.
        in: Scriver C.R. Beaudet A.L. Valle D. Sly W.S. The metabolic and molecular bases of ınherited disease. 8th ed. McGraw-Hill, New York2001: 5493-5512
        • Cecil K.M.
        • Jones B.V.
        Magnetic resonance spectroscopy of the pediatric brain.
        Top Magn Reson Imaging. 2001; 12: 435
        • Pioro E.
        • Antel J.
        • Cashman N.
        Detection of cortical neuron loss in motor neuron disease by proton magnetic resonance spectroscopic imaging in vivo.
        Neurology. 1994; 44: 1933-1938
        • Filippi C.G.
        • Ulug A.M.
        • Deck M.D.
        • Zimmerman R.D.
        • Heier L.A.
        Developmental delay in children: assessment with proton MR spectroscopy.
        Am J Neuroradiol. 2002; 23: 882-888
        • Alkan A.
        • Kutlu R.
        • Yakinci C.
        • Sigirci A.
        • Aslan M.
        • Sarac K.
        Delayed myelination in a rhizomelic chondrodysplasia punctata case: MR spectroscopy findings.
        Magn Reson Imaging. 2003; 21: 77-80
        • Alkan A.
        • Sarac K.
        • Kutlu R.
        • Yakinci C.
        • Sigirci A.
        • Aslan M.
        • et al.
        Early and late-state subacute sclerosing panencephalitis: chemical shift imaging and single-voxel MR spectroscopy.
        Am J Neuroradiol. 2003; 24: 501-506