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一个令人困惑的巧合:新生儿低血糖性惊厥与惊吓症

A confusing coincidence: neonatal hypoglycemic seizures and hyperekplexia.

作者信息

Demir Nihat, Doğan Murat, Yılmaz Sanem, Peker Erdal, Bulan Keziban, Tuncer Oğuz

机构信息

Department of Pediatrics, Division of Neonatology, Yuzuncu Yil University School of Medicine, 65200 Van, Turkey ; Hospital of the Yuzuncu Yil University, 65250 Van, Turkey.

Department of Pediatrics, Division of Endocrinology, Yuzuncu Yil University School of Medicine, 65200 Van, Turkey.

出版信息

Case Rep Med. 2014;2014:595412. doi: 10.1155/2014/595412. Epub 2014 Mar 24.

Abstract

Hyperekplexia is a rare, nonepileptic, genetic, or sporadic neurologic disorder characterized by startle responses to acoustic, optic, or tactile stimuli. Genetic defects in glycine receptors as well as encephalitis, tumors, inflammation, and disgenesis are among the etiologic causes of the disease. The main problem in hyperekplexia is the incomplete development of inhibitory mechanisms or exaggerated stimulation of excitatory mediators. Hyperekplexia is often confused with epileptic seizures. Here we present a case with hypoglycemic convulsions coexisting with hyperekplexia, causing diagnostic difficulty.

摘要

僵人综合征是一种罕见的、非癫痫性的、遗传性或散发性神经系统疾病,其特征为对听觉、视觉或触觉刺激产生惊吓反应。甘氨酸受体的基因缺陷以及脑炎、肿瘤、炎症和发育不全是该疾病的病因。僵人综合征的主要问题是抑制机制发育不完全或兴奋性介质的刺激过度。僵人综合征常与癫痫发作相混淆。在此,我们报告一例低血糖惊厥与僵人综合征共存,导致诊断困难的病例。

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本文引用的文献

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The genetics of hyperekplexia: more than startle!惊跳症的遗传学:不止于惊吓!
Trends Genet. 2008 Sep;24(9):439-47. doi: 10.1016/j.tig.2008.06.005. Epub 2008 Aug 15.
6
Neonatal seizures.新生儿惊厥
Ann Neurol. 2007 Aug;62(2):112-20. doi: 10.1002/ana.21167.
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A family with emotionally precipitated drop seizures.一个患有情绪诱发跌落发作的家庭。
Acta Psychiatr Neurol Scand. 1958;33(4):471-6. doi: 10.1111/j.1600-0447.1958.tb03533.x.

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