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.
Highlights
Hyperekplexia (HE), first described by Kirstein and Silfverskiold in 1958, is a rare and nonepileptic clinical entity characterized by exaggerated and generalized startle responses to acoustic, optic, or tactile stimuli [1]
The most important clinical feature of hyperekplexia is extreme reaction to stimuli caused by genetic mutations or incomplete development of the inhibitory glycine receptors in the brain secondary to encephalitis, tumors, inflammation, and dysgenesis [4, 6, 7]
The clinical presentation of hyperekplexia differs with the age of the patient, and this situation leads to difficulty in diagnosis
Summary
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. We present a case with hypoglycemic convulsions coexisting with hyperekplexia, causing diagnostic difficulty
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