Clinical and Experimental Pediatrics

The Korean Pediatric Society (대한소아청소년과학회)
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A Case Report of Congenital Hyperekplexia in Twin

쌍생아에서 발생한 선천성 Hyperekplexia 1례

  • Choi, Bong Seok (Department of Pediatrics, College of Medicine, Pusan National University) ;
  • Kim, Young Mi (Department of Pediatrics, College of Medicine, Pusan National University) ;
  • Lee, Yun Jin (Department of Pediatrics, College of Medicine, Pusan National University) ;
  • Park, Su Eun (Department of Pediatrics, College of Medicine, Pusan National University) ;
  • Nam, Sang Ook (Department of Pediatrics, College of Medicine, Pusan National University)
  • 최봉석 (부산대학교 의과대학 소아과학교실) ;
  • 김영미 (부산대학교 의과대학 소아과학교실) ;
  • 이윤진 (부산대학교 의과대학 소아과학교실) ;
  • 박수은 (부산대학교 의과대학 소아과학교실) ;
  • 남상욱 (부산대학교 의과대학 소아과학교실)
  • Received : 2002.05.13
  • Accepted : 2002.07.09
  • Published : 2002.10.15
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Abstract

Hyperekplexia or startle disease is a hereditary neurological disorder characterized by an abnormally exaggerated startle response to tactile, auditory and visual stimuli, together with a global muscular hypertonia and hyperactive tendon reflexes. This disease is a rare, genetically determined disorder, with an autosomal dominant inheritance with variable expression, first described by Suhren, et al. We report two cases of familial hyperekplexia, who developed hypertonia and pathologic startle response to tactile stimulation in the immediate neonatal period. The infant showed a marked improvement of the startle response and muscular hypertonia with low-dose clobazam.

저자들은 수유 중 우연히 발견된 전신 과긴장성과 자극에 대한 과도한 반응을 나타내는 일란성 쌍생아를 hyperekplexia로 진단하고 치료한 경험을 문헌 고찰과 함께 보고하는 바이다.

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