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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2016.1
- 수록면
- 173 - 177 (5page)
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This paper reports the brain magnetic resonance imaging (MRI) findings of a case of merosin-deficient congenital muscular dystrophy (MDCMD) in a neonate and dis- cusses the spectrum of brain involvement in MDCMD. A neonate presented hypo- tonia, increased serum creatine kinase levels, and polymicrogyria and subcortical heterotopia on brain MRI involving both posterior temporal and occipital lobes. Al- though these findings suggested Fukuyama muscular dystrophy, muscle biopsy show- ed 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.
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참고문헌 (17)
참고문헌 신청
Batten FE / 1903 / Three cases of myopathy, infantile type / Brain 26:147~148
Philpot J / 1999 / Feeding problems in merosin deficient congenital muscular dystrophy / Arch Dis Child 80:542~547
Dubowitz V / 1994 / 22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16May 1993 / Neuromuscul Disord 4:75~81
Kobayashi O / 1996 / Congenital muscular dystrophy: clinical and pathologic study of 50 patients with the classical (Occidental) merosin-positive form / Neurology 46:815~818
Tomé FM / 1994 / Congenital muscular dystrophy with merosin deficiency / R Acad Sci III 317:351~357
Philpot J / 1999 / Feeding problems in merosin deficient congenital muscular dystrophy / Arch Dis Child 80:542~547
Dubowitz V / 1994 / 22nd ENMC sponsored workshop on congenital muscular dystrophy held in Baarn, The Netherlands, 14-16May 1993 / Neuromuscul Disord 4:75~81
Kobayashi O / 1996 / Congenital muscular dystrophy: clinical and pathologic study of 50 patients with the classical (Occidental) merosin-positive form / Neurology 46:815~818
Tomé FM / 1994 / Congenital muscular dystrophy with merosin deficiency / R Acad Sci III 317:351~357
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