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A Case Report of Congenital Hyperekplexia in Twin  

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)
Publication Information
Clinical and Experimental Pediatrics / v.45, no.10, 2002 , pp. 1284-1288 More about this Journal
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.
Keywords
Hyperekplexia; Hypertonia; Startle disease; Clobazam;
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