僵人综合征——新生儿呼吸暂停的一个病因：病例报告

Hyperekplexia, a cause of neonatal apnea: a case report.

作者信息

Gherpelli J L, Nogueira A R, Troster E J, Deutsch A D, Leoné C R, Brotto M W, Diament A, Ramos J L

机构信息

Departamento de Neurologia, Hospital das Clínicas, Faculdade de Medicina, Universidade de São Paulo, Brazil.

出版信息

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

DOI:10.1016/0387-7604(94)00113-c

PMID:7625544

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.

摘要

我们报告一例非家族性惊跳症病例，其在新生儿期典型地出现呼吸暂停和喂养困难。异常惊跳反应从出生后第二周起就很明显。该婴儿使用氯硝西泮后惊跳反应和肌肉张力亢进有明显改善。也尝试使用了氯巴占，但无明显反应。肌电图检查观察到显著的长潜伏期C反应，提示惊跳症中观察到的异常惊跳反应可能起源于皮质神经元兴奋性过高。