Merosin Negative Congenital Muscular Dystrophy Who Was Misdiagnosed Initially as Cerebral Palsy: A case report

ABSTRACT

Congenital muscular dystrophies (CMDs) are autosomal recessive, heterogenous disorders characterized clinically by neonatal hypotonia, delayed motor milestones, joint contractures, and dystrophic changes in the muscles. The classic forms of CMDs are subclassified into merosin positive and deficient (negative) types. Merosin (laminin alpha chain)-negative CMD is caused by the mutation in the basal lamina of the alpha2 chain gene (LAMA2 gene at 6q22-23). Merosin deficiency could disrupt the attachment of muscle cell to the extracellular matrix and lead to muscle cell necrosis. We report a case of merosin-negative CMD, confirmed by immunohistochemical staining of muscle samples, which is uncommon form in Korea.