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Published on: January 12, 2019
Neonatal neuroimaging findings in congenital myotonic dystrophy
T Bosemani1, J Jasien2, M V Johnston3
11] Section of Pediatric Neuroradiology, Division of Pediatric Radiology, Russell H. Morgan Department of Radiology and Radiological Science, Charlotte R. Bloomberg Children's Center, Johns Hopkins University School of Medicine, Baltimore, MD, USA [2] Neurosciences Intensive Care Nursery Program, Johns Hopkins University School of Medicine, Baltimore, MD, USA.
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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