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

, Kim, Soo Yeon; , Shin, Yong Beom; , Shin, Myung Jun; , Kim, Sung Nyun; , Kim, Wan

Case Report

Journal of the Korean Academy of Rehabilitation Medicine 2010;34(4):471-474.

Kim, Soo Yeon , Shin, Yong Beom , Shin, Myung Jun , Kim, Sung Nyun , Kim, Wan

Department of Rehabilitation Medicine, Pusan National University School of Medicine, Korea. yi0314@gmail.com

뇌성마비로 오인된 Merosin 음성 선천성 근이영양증 1예 −증례 보고−

김수연, 신용범, 신명준, 김성년, 김완

부산대학교 의학전문대학원 재활의학교실

Abstract

Congenital muscular dystrophies (CMDs) are autosomal recessive, heterogenous disorders characterized clinically by neonatal hypotonia, delayed motor milestones, joint contrac- tures, and dystrophic changes in the muscles. The classic forms of CMDs are subclassified into merosin positive and deficient (negative) types. Merosin (laminin Ձ chain)-negative CMD is caused by the mutation in the basal lamina of the Ձ2 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. (J Korean Acad Rehab Med 2010; 34: 471-474)

Key Words: Merosin, Hypotonia, Muscular dystrophy