Merosin-Deficient Congenital Muscular Dystrophy with Polymicrogyria and Subcortical Heterotopia: A Case Report
Neonatal Medicine
;
: 173-177, 2016.
Artigo
em Inglês
| WPRIM
| ID: wpr-179302
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Biópsia
/
Encéfalo
/
Imageamento por Ressonância Magnética
/
Laminina
/
Classificação
/
Creatina Quinase
/
Lissencefalias Clássicas e Heterotopias Subcorticais em Banda
/
Síndrome de Walker-Warburg
/
Polimicrogiria
/
Hipotonia Muscular
Limite:
Criança
/
Humanos
/
Recém-Nascido
Idioma:
Inglês
Revista:
Neonatal Medicine
Ano de publicação:
2016
Tipo de documento:
Artigo
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