뇌성마비로 오인된 Merosin 음성 선천성 근이영양증 1예 −증례 보고−
Merosin Negative Congenital Muscular Dystrophy Who Was Misdiagnosed Initially as Cerebral Palsy −A case report−
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초록
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 α chain)-negative CMD is caused by the mutation in the basal lamina of the α2 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)
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 α chain)-negative CMD is caused by the mutation in the basal lamina of the α2 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)
참고문헌 (10)
- Voit T, "Congenital muscular dystrophies: 1997 update", Brain Dev, 20, pp.65~74 (1998)
- Tomé FM, "Congenital muscular dystrophy with merosin deficiency", C R Acad Sci III, 317, pp.351~357 (1994)
- Hayashi YK, "Massive muscle cell degeneration in the early stage of merosin-deficient congenital muscular dystrophy", Neuromuscl Disord, 11, pp.350~359 (2001)
- Chae JH, "Merosin-deficient congenital muscular dystrophy in Korea", Brain Dev, 31, pp.341~346 (2009)
- Lee JS, "Merosin deficient congenital muscular dystrophy in korea", J Korean Child Neurol Soc, 13, pp.31~40 (2005)
- 채경민, "Merosin 결핍 선천성근이영양증 1예", 대한신경과학회지, 22(6), pp.680~682 (2004), 대한신경과학회
- Sewry CA, "Diagnosis of merosin (laminin-2) deficient congenital muscular dystrophy by skin biopsy", Lancet, 347, pp.582~584 (1996)
- Gilhuis HJ, "Nonmuscular involvement in merosin-negative congenital muscular dystrophy", Pediatr Neurol, 26, pp.30~36 (2002)
- Hillaire D, "Localization of merosin-negative congenital muscular dystrophy to chromosome 6q2 by homozygosity mapping", Hum Mol Genet, 3, pp.1657~1661 (1994)
- Mercuri E, "Congenital muscular dystrophies", Semin Pediatr Neurol, 9, pp.120~131 (2002)