Neonatal Medicine  2016;23(3):173-177

doi:10.5385/nm.2016.23.3.173

Merosin-Deficient Congenital Muscular Dystrophy with Polymicrogyria and Subcortical Heterotopia: A Case Report.

Young Mi HAN 1 ; Na Rae LEE ; Mi Hye BAE ; Kyung Hee PARK ; Jin Hong SHIN ; Dae Seong KIM ; Shin Yun BYUN

Affiliations

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Keywords

Merosin-deficient congenital muscular dystrophy; Polymicrogyria; Subcortical band heterotopias; Laminin-2

Country

Republic of Korea

Language

English

Abstract

This paper reports the brain magnetic resonance imaging (MRI) findings of a case of merosin-deficient congenital muscular dystrophy (MDCMD) in a neonate and discusses the spectrum of brain involvement in MDCMD. A neonate presented hypotonia, increased serum creatine kinase levels, and polymicrogyria and subcortical heterotopia on brain MRI involving both posterior temporal and occipital lobes. Although these findings suggested Fukuyama muscular dystrophy, muscle biopsy showed dystrophic changes and an absence of merosin staining. We found that compound heterozygous mutation for c.2049_2050delAG (p.R683fs) and c.5866-2A>G in the LAMA2 gene which encodes Laminin-α2. To our knowledge, this is the second Korean case of MDCMD with polymicrogyria and subcortical heterotopias. This case shows that a range of brain structural malformations can be found in children with MDCMD and that the classification of congenital muscular dystrophy (CMD) is not complete yet, as indicated previously in reports suggesting other unclassified forms of CMD.