Neonatal neuroimaging findings in congenital myotonic dystrophy

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

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish (US)
Pages (from-to)159-160
Number of pages2
JournalJournal of Perinatology
Issue number2
StatePublished - Feb 2014


  • congenital myotonic dystrophy
  • magnetic resonance imaging
  • newborn
  • white matter

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Obstetrics and Gynecology


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