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A Case Report of Congenital Hyperekplexia in Twin

Journal of the Korean Pediatric Society 2002;45(10):1284-1288.
Published online October 15, 2002.
A Case Report of Congenital Hyperekplexia in Twin
Bong Seok Choi, Young Mi Kim, Yun Jin Lee, Su Eun Park, Sang Ook Nam
Department of Pediatrics, College of Medicine, Pusan National University, Busan, Korea
쌍생아에서 발생한 선천성 Hyperekplexia 1례
최봉석, 김영미, 이윤진, 박수은, 남상욱
부산대학교 의과대학 소아과학교실
Su Eun Park, Email: pse0731@hanmail.net
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.
Key Words: Hyperekplexia, Hypertonia, Startle disease, Clobazam

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