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Case Reports
. 1995 Mar-Apr;17(2):114-6.
doi: 10.1016/0387-7604(94)00113-c.

Hyperekplexia, a cause of neonatal apnea: a case report

J L Gherpelli  1 , A R Nogueira Jr, E J Troster, A D Deutsch, C R Leoné, M W Brotto, A Diament, J L Ramos
Affiliations
Case Reports

Hyperekplexia, a cause of neonatal apnea: a case report

J L Gherpelli et al. Brain Dev. 1995 Mar-Apr.

Abstract

We report a case of non-familial hyperekplexia which characteristically developed apnea and feeding difficulties in the neonatal period. The abnormal startle response was evident from the second week of life onwards. The infant showed a marked improvement of the startle response and muscle hypertonia with clonazepam. Clobazam was also tried with no apparent response. A prominent long latency C response was observed on EMG examination, suggesting a possible cortical neuronal hyperexcitability origin for the abnormal startle response observed in hyperekplexia.

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