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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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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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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DOI: https://doi.org/10.1038/jp.2013.142