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  • Perinatal/Neonatal Case Presentation
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Perinatal/Neonatal Case Presentation

Neonatal neuroimaging findings in congenital myotonic dystrophy

Journal of Perinatology volume 34, pages 159–160 (2014)Cite this article

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Abstract

We report on a preterm neonate of 30 weeks gestational age who presented with marked muscular hypotonia and severe respiratory failure at birth and was diagnosed with congenital myotonic dystrophy. Neuroimaging at 36 gestational weeks demonstrated diffuse T2-hyperintense signal of the supratentorial white matter and a simplified gyration and sulcation pattern. Follow-up imaging showed progressive myelination, brain maturation and decrease in T2-signal of the white matter. We discuss possible pathomechanisms for white matter signal abnormalities in this neonate.

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References

  1. Harper PS . Myotonic dystrophy In: Karpati G, Hilton-Jones D, Griggs RC (eds) Disorders of Voluntary Muscle. Cambridge University Press: Cambridge pp 541–559 2001.

    Google Scholar 

  2. Udd B, Krahe R . The myotonic dystrophies: molecular, clinical, and therapeutic challenges. Lancet Neurol 2012; 11 (10): 891–905.

    Article  CAS  Google Scholar 

  3. Wesstrom G, Bensch J, Schollin J . Congenital myotonic dystrophy. Incidence, clinical aspects and early prognosis. Acta Paediatr Scand 1986; 75 (5): 849–854.

    Article  CAS  Google Scholar 

  4. Hageman AT, Gabreels FJ, Liem KD, Renkawek K, Boon JM . Congenital myotonic dystrophy; a report on thirteen cases and a review of the literature. J Neurol Sci 1993; 115 (1): 95–101.

    Article  CAS  Google Scholar 

  5. Campbell C, Sherlock R, Jacob P, Blayney M . Congenital myotonic dystrophy: assisted ventilation duration and outcome. Pediatrics 2004; 113 (4): 811–816.

    Article  Google Scholar 

  6. Kaliman P, Llagostera E . Myotonic dystrophy protein kinase (DMPK) and its role in the pathogenesis of myotonic dystrophy 1. Cell Signal 2008; 20 (11): 1935–1941.

    Article  CAS  Google Scholar 

  7. Prasad AN, Prasad C . The floppy infant: contribution of genetic and metabolic disorders. Brain Dev 2003; 25 (7): 457–476.

    Article  Google Scholar 

  8. Haranaka M, Endo A, Kohira R, Fujita Y, Takada M, Ohkubo O et al. [Brain lesion in congenital myotonic dystrophy]. No To Hattatsu 2000; 32 (3): 268–273.

    CAS  PubMed  Google Scholar 

  9. Charrow J . A newborn girl with hypotonia and respiratory failure. Pediatr Ann 2007; 36 (12): 777, 781-782.

    Article  Google Scholar 

  10. Hashimoto T, Tayama M, Miyazaki M, Murakawa K, Kawai H, Nishitani H et al. Neuroimaging study of myotonic dystrophy. I. Magnetic resonance imaging of the brain. Brain Dev 1995; 17 (1): 24–27.

    Article  Google Scholar 

  11. Wozniak JR, Mueller BA, Ward EE, Lim KO, Day JW . White matter abnormalities and neurocognitive correlates in children and adolescents with myotonic dystrophy type 1: a diffusion tensor imaging study. Neuromuscul Disord 2011; 21 (2): 89–96.

    Article  Google Scholar 

  12. Minnerop M, Weber B, Schoene-Bake JC, Roeske S, Mirbach S, Anspach C et al. The brain in myotonic dystrophy 1 and 2: evidence for a predominant white matter disease. Brain 2011; 134 (Pt 12): 3530–3546.

    Article  Google Scholar 

  13. Tanabe Y, Iai M, Tamai K, Fujimoto N, Sugita K . Neuroradiological findings in children with congenital myotonic dystrophy. Acta Paediatr 1992; 81 (8): 613–617.

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We are grateful to Professor Ronald D Cohn, Division of Clinical and Metabolic Genetics, the Hospital for Sick Children, University of Toronto, Canada, and Professor Jaap Valk, Department of Radiology, VU University Medical Center, Amsterdam, the Netherlands, for interesting and helpful discussions about this patient.

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Authors and Affiliations

  1. Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, Section of Pediatric Neuroradiology, Charlotte R. Bloomberg Children’s Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    T Bosemani, T A G M Huisman & A Poretti

  2. Neurosciences Intensive Care Nursery Program, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    T Bosemani, J Jasien, M V Johnston, T A G M Huisman, A Poretti & F J Northington

  3. Kennedy Krieger Institute, Baltimore, MD, USA

    J Jasien & M V Johnston

  4. Department of Pediatrics, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    M V Johnston & F J Northington

  5. Department of Neurology, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    M V Johnston

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  1. T Bosemani
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  2. J Jasien
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  4. T A G M Huisman
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  5. A Poretti
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Correspondence to T Bosemani.

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Bosemani, T., Jasien, J., Johnston, M. et al. Neonatal neuroimaging findings in congenital myotonic dystrophy. J Perinatol 34, 159–160 (2014). https://doi.org/10.1038/jp.2013.142

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