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

A confusing coincidence: neonatal hypoglycemic seizures and hyperekplexia.

Author information

1
Department of Pediatrics, Division of Neonatology, Yuzuncu Yil University School of Medicine, 65200 Van, Turkey ; Hospital of the Yuzuncu Yil University, 65250 Van, Turkey.
2
Department of Pediatrics, Division of Endocrinology, Yuzuncu Yil University School of Medicine, 65200 Van, Turkey.
3
Department of Pediatrics, Division of Neurology, Ege University School of Medicine, İzmir, Turkey.
4
Department of Pediatrics, Division of Neonatology, Yuzuncu Yil University School of Medicine, 65200 Van, Turkey.

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.

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