Neonatal neuroimaging findings in congenital myotonic dystrophy.


Journal Article

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.

Full Text

Duke Authors

Cited Authors

  • Bosemani, T; Jasien, J; Johnston, MV; Huisman, TAGM; Poretti, A; Northington, FJ

Published Date

  • February 2014

Published In

Volume / Issue

  • 34 / 2

Start / End Page

  • 159 - 160

PubMed ID

  • 24476662

Pubmed Central ID

  • 24476662

Electronic International Standard Serial Number (EISSN)

  • 1476-5543

Digital Object Identifier (DOI)

  • 10.1038/jp.2013.142


  • eng

Conference Location

  • United States