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Hyperekplexia, a cause of neonatal apnea: a case report
J L Gherpelli1, A R Nogueira, E J Troster
1Departamento de Neurologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, Brazil.
Brain & Development
|March 1, 1995
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.