Neonatal Med.  2016 Aug;23(3):173-177. 10.5385/nm.2016.23.3.173.

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

• Han YM
• Lee NR
• Bae MH
• Park KH
• Shin JH
• Kim DS
• Byun SY

• KMID: 2350288
• DOI: http://doi.org/10.5385/nm.2016.23.3.173

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.

Keyword

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

MeSH Terms

Biopsy
Brain
Child
Classical Lissencephalies and Subcortical Band Heterotopias
Classification
Creatine Kinase
Humans
Infant, Newborn
Laminin
Magnetic Resonance Imaging
Muscle Hypotonia
Muscular Dystrophies*
Occipital Lobe
Polymicrogyria*
Walker-Warburg Syndrome
Creatine Kinase
Laminin