Key result
A neonate with merosin-deficient congenital muscular dystrophy caused by compound heterozygous LAMA2 mutations presented with polymicrogyria and subcortical heterotopia on brain MRI.
Case Report (n=1)
No
Highlights that a range of brain structural malformations can be found in children with MDCMD, suggesting the classification of congenital muscular dystrophy is not yet complete.
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 hete rotopia 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 com pound 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 pre viously in reports suggesting other unclassified forms of CMD.
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Han et al. (2016) conducted a case report in Merosin-deficient congenital muscular dystrophy (n=1). LAMA2 gene mutation was evaluated on Clinical and radiological presentation. A neonate with merosin-deficient congenital muscular dystrophy caused by compound heterozygous LAMA2 mutations presented with polymicrogyria and subcortical heterotopia on brain MRI.
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