Neonatal neuroimaging findings in congenital myotonic dystrophy

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

doi:10.1038/jp.2013.142

Neonatal neuroimaging findings in congenital myotonic dystrophy

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

School of Medicine

Research output: Contribution to journal › Article › peer-review

6 Scopus citations

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.

Original language	English (US)
Pages (from-to)	159-160
Number of pages	2
Journal	Journal of Perinatology
Volume	34
Issue number	2
DOIs	https://doi.org/10.1038/jp.2013.142
State	Published - Feb 2014

Keywords

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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10.1038/jp.2013.142

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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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AU - Johnston, M. V.

AU - Huisman, T. A.G.M.

AU - Poretti, A.

AU - Northington, F. J.

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AB - 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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KW - magnetic resonance imaging

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Neonatal neuroimaging findings in congenital myotonic dystrophy

Abstract

Keywords

ASJC Scopus subject areas

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