Clinical and Experimental Pediatrics

대한소아청소년과학회 (The Korean Pediatric Society)
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광범위한 감각신경 침범을 동반한 척수성 근위축증 2예

Two cases of spinal muscular atrophy type 1 with extensive involvement of sensory nerves

  • 이란 (건국대학교 의학전문대학원 소아청소년과) ;
  • 정소정 (건국대학교 의학전문대학원 소아청소년과) ;
  • 고성은 (건국대학교 의학전문대학원 재활의학과) ;
  • 이인규 (순천향의대 소아청소년과) ;
  • 이종민 (건국대학교 의학전문대학원 재활의학과)
  • Lee, Ran (Department of Pediatrics, Konkuk University School of Medicine) ;
  • Chung, Sochung (Department of Pediatrics, Konkuk University School of Medicine) ;
  • Koh, Sung-Eun (Department of Rehabilitation, Konkuk University School of Medicine) ;
  • Lee, In Kyu (Department of Pediatrics, Soonchunhyang University, College of Medicine) ;
  • Lee, Jongmin (Department of Rehabilitation, Konkuk University School of Medicine)
  • 투고 : 2008.08.25
  • 심사 : 2008.10.08
  • 발행 : 2008.12.15
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초록

척수성 근위축증은 상염색체 열성으로 유전되며 사지 및 몸통 근위부와 원위부의 광범위한 근력약화를 특징으로 한다. 5번 염색체 장완(5q11.2-13.3)에 위치한 survival motor neuron (SMN) 유전자의 결손이 그 원인이다. 척수성 근위축증은 순수하게 운동신경만 침범하는 것으로 알려져 있다. 분자유전학적 방법으로 유전자의 결손을 증명하므로써 진단할 수 있다. 저자들은 아주 이른 영아시기부터 심한 근긴장도 저하와 잦은 폐흡인을 보였고, 분자 유전학적 검사로 척수성 근위축증을 진단한 2명의 환아에서 신경전도 검사상 광범위한 감각신경을 침범한 경우를 경험하여 보고하는 바이다. 본 증례는 감각 신경을 침범한 척수성 근위축증에 대해 국내에서는 첫번째 보고로 생각한다.

Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by diffuse proximal and distal weakness due to deletion of the survival motor neuron (SMN) gene localized on chromosome 5 (5q11.2-13.3). SMA has been considered as a pure lower motor neuron disorder, and a definitive diagnosis can be established by molecular genetic testing. Here, we describe two patients with severe hypotonia and frequent aspirations at early infancy. Nerve conduction studies showed more extensive sensory involvement in these patients diagnosed to have SMA by genetic study than in classical cases of SMA. To the best of our knowledge, this is the first report of SMA Type 1 with sensory nerve involvement in Korea.

키워드

참고문헌

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