| A Case Report of Congenital Hyperekplexia in Twin |
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Bong Seok Choi, Young Mi Kim, Yun Jin Lee, Su Eun Park, Sang Ook Nam |
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Department of Pediatrics, College of Medicine, Pusan National University, Busan, Korea |
| 쌍생아에서 발생한 선천성 Hyperekplexia 1례 |
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최봉석, 김영미, 이윤진, 박수은, 남상욱 |
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부산대학교 의과대학 소아과학교실 |
Correspondence:
Su Eun Park, Email: pse0731@hanmail.net
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| Abstract |
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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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