Skip to main content
SpringerLink
Log in

CNS findings in congenital muscular dystrophy 1A (with laminin alpha-2-deficiency)

  • Case Report
  • Published:
Translational Neuroscience

Abstract

Congenital muscular dystrophy (MDC) is a group of rare hereditary myopathies with an early onset of progressive muscle weakness and dystrophic changes as evidenced by muscle biopsy. Some forms are associated with severe malformations of the brain. This study presented 2 pediatric patients with genetically diagnosed congenital muscular dystrophy 1A. The patients exhibited a typical combination of muscular hypotonia, joint contractures and elevated creatine kinase levels. Characteristic white matter lesions were not present in an early MRI scan of one patient, but could be detected at the age of 18 months. The second patient showed both severe white and grey matter abnormalities (pachy microgyria) in the MRI scan. In both cases, MRI findings did not correlate with the mental development of the patients.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

References

  1. Reed U.C., Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects, Arq. Neuro-Psiquiatr., 2009, 67, 144–168

    Article  Google Scholar 

  2. Reed U.C., Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives, Arq. Neuro-Psiquiatr., 2009, 67, 343–362

    Article  Google Scholar 

  3. Darin N., Tulinius M., Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden, Neuromusc. Disord., 2000, 10, 1–9

    Article  PubMed  CAS  Google Scholar 

  4. Mostacciuolo M.L., Angelini C., Marinelloa F., Miorin M., Perini P., Trevisan C.P., Genetic epidemiology of congenital muscular dystrophy in a sample from north-east Italy, Hum. Genet., 1996, 97, 277–279

    Article  PubMed  CAS  Google Scholar 

  5. Shorer Z., Philpot J., Muntoni F., Sewry C., Dubowitz V., Demyelinating peripheral neuropathy in merosin-deficient congenital muscular dystrophy, J. Child Neurol., 1995, 10, 472–475

    Article  PubMed  CAS  Google Scholar 

  6. 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

    Article  PubMed  CAS  Google Scholar 

  7. 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, Neuromusc. Disord., 1999, 9, 81–85

    Article  PubMed  CAS  Google Scholar 

  8. Schiffmann R., van der Knaap, M. S. An MRI-based approach to the diagnosis of white matter disorders, Neurology, 2009, 72, 750–759

    Article  PubMed  Google Scholar 

  9. Pini A., Merlini L., Tomé F.M., Chevallay M., Gobbi G., Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia: report of three Italian cases in two families, Brain Dev., 1996, 18, 316–322

    Article  PubMed  CAS  Google Scholar 

  10. Fujii Y., Sugiura C., Fukuda C., Maegaki Y., Ohno K., Sequential neuroradiological and neurophysiological studies in a Japanese girl with merosin-deficient congenital muscular dystrophy, Brain Dev., 2011, 33, 140–144

    Article  PubMed  Google Scholar 

  11. van der Knaap M.S., Smit 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

    Article  PubMed  Google Scholar 

  12. Caro P.A., Scavina M., Hoffman E., Pegoraro E., Marks H.G., MR imaging findings in children with merosin-deficient congenital muscular dystrophy, Am. J. Neuroradiol., 1999, 20, 3324–326

    Google Scholar 

  13. Villanova M., Malandrini A., Sabatelli P., Sewry C.A., Toti P., Torelli S., et al., Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study, Acta Neuropathol., 1997, 94, 576–571

    Article  Google Scholar 

  14. Leite C.C., Reed U.C., Otaduy M.C., Lacerda M.T., Costa M.O., Ferreira L.G., et al., Congenital muscular dystrophy with merosin deficiency: 1H MR spectroscopy and diffusion-weighted MR imaging, Radiology, 2005, 235, 190–196

    Article  PubMed  Google Scholar 

  15. Sijens P.E., Fock J.M., Meiners L.C., Potze J.H., Irwan R., Oudkerk M., MR spectroscopy and diffusion tensor imaging of the brain in congenital muscular dystrophy with merosin deficiency: metabolite level decreases, fractional anisotropy decreases, and apparent diffusion coefficient increases in the white matter, Brain Dev., 2007, 29, 317–321

    Article  PubMed  CAS  Google Scholar 

  16. Sunada Y., Edgar T.S., Lotz B.P., Rust R.S., Campbell K.P., Merosinnegative congenital muscular dystrophy associated with extensive brain abnormalities, Neurology 1995, 45, 2084–2089

    PubMed  CAS  Google Scholar 

  17. Messina S., Bruno C., Moroni I., Pegoraro E., D’Amico A., Biancheri R., et al., Congenital muscular dystrophies with cognitive impairment. A population study, Neurology 2010, 7. 75, 898–903

    Article  Google Scholar 

  18. Vigliano P., Dassi P., Di Blasi C., Mora M., Jarre L., LAMA2 stop-codon mutation: merosin-deficient congenital muscular dystrophy with occipital polymicrogyria, epilepsy and psychomotor regression, Eur. J. Paediatr. Neurol., 2009, 13, 72–6

    Article  PubMed  Google Scholar 

  19. Matsumura K., Yamada H., Saito F., Sunada Y., Shimizu T., Peripheral nerve involvement in merosin-deficient congenital muscular dystrophy and dy mouse, Neuromusc. Disord., 1997, 7, 7–12

    Article  PubMed  CAS  Google Scholar 

  20. Louhichi N., Triki C., Morinière M., Rebai A., Richard P., et al., Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level, Genet. Test., 2007, 11: 199–207

    Article  PubMed  Google Scholar 

  21. Siala O., Louhichi N., Triki C., Morinière M., Fakhfakh F., Baklouti F., LAMA2 mRNA processing alterations generate a complete deficiency of laminin-alpha 2 protein and a severe congenital muscular dystrophy, Neuromusc. Disord., 2008, 18, 137–145

    Article  PubMed  Google Scholar 

  22. Oliveira J., Santos R., Soares-Silva I., Jorge P., Vieira E., Oliveira M.E., et al, LAMA2 gene alalysis in a cohort of 26 congenital muscular dystrophy patients, Clin. Genet., 2008, 74, 502–512

    Article  PubMed  CAS  Google Scholar 

  23. Geranmayeh F., Clement E., Feng L.H., Sewry C., Pagan J., Mein R., et al., Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations, Neuromusc. Disord., 2010, 20, 241–250

    Article  PubMed  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Department of Neuropediatrics, University Children’s Hospital, Ruhr-University Bochum, Bochum, Germany

    Cornelia Köhler, Katharina Weigt-Usinger, Charlotte Thiels & Thomas Lücke

  2. Department of Diagnostic Radiology and Nuclear Medicine, Bergmannsheil, Ruhr-University Bochum, Bochum, Germany

    Christoph M. Heyer

  3. Department of Neurology, Bergmannsheil, Ruhr-University Bochum, Bochum, Germany

    Matthias Vorgerd

  4. Department of Genetics, Ruhr-University Bochum, Bochum, Germany

    Gabriele Dekomien

Authors
  1. Cornelia Köhler
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Katharina Weigt-Usinger
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Christoph M. Heyer
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Charlotte Thiels
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. Gabriele Dekomien
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Matthias Vorgerd
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Thomas Lücke
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Cornelia Köhler.

Additional information

Contributed equally

About this article

Cite this article

Köhler, C., Weigt-Usinger, K., Heyer, C.M. et al. CNS findings in congenital muscular dystrophy 1A (with laminin alpha-2-deficiency). Translat.Neurosci. 2, 138–141 (2011). https://doi.org/10.2478/s13380-011-0020-7

Download citation

  • Received:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.2478/s13380-011-0020-7

Keywords

Search

Navigation