Neonatal neuroimaging findings in congenital myotonic dystrophy

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...

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Bibliographic Details
Published inJournal of perinatology Vol. 34; no. 2; pp. 159 - 160
Main Authors Bosemani, T, Jasien, J, Johnston, M V, Huisman, T A G M, Poretti, A, Northington, F J
Format Journal Article
LanguageEnglish
Published United States Nature Publishing Group 01.02.2014
Subjects
Abnormalities
Brain - pathology
Care and treatment
Case studies
Diagnosis
Dystrophy
Electromyography
Female
Genetic disorders
Gestational age
Humans
Hypotonia
Infant, Newborn
Intensive care
Magnetic Resonance Imaging
Medical imaging
Medicine
Metabolism
Myelination
Myotonic dystrophy
Myotonic Dystrophy - diagnosis
Neonates
Neuroimaging
Newborn babies
Patient outcomes
Pediatrics
Radiology
Respiratory failure
Substantia alba
Ventilators
United States > US
Baltimore Maryland
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Summary: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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ISSN:0743-8346
1476-5543
DOI:10.1038/jp.2013.142