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Reflex periodic spasms are specific seizure type to 5p- syndrome
Last modified: 2014-04-03
Abstract
5p-syndrome is a genetic disease resulting from a deletion of the short arm of chromosome 5. The most characteristic clinical feature is high-pitched cry. In 5p- syndrome, epilepsy is a quite rare complication, and there have been few case reports with epilepsy. We describe 2 cases of 5p-syndrome, who suffer from a series of epileptic spasms. In case 1, 27-year-old male, seizures were provoked by eating. In case 2, 23-year-old female, seizures were provoked not only by eating but also by micturition. In both patients, ictal EEGs showed a periodic pattern characterized by diffuse high voltage slow waves. The symptoms and EEG findings of them were consistent with periodic spasms (PS) reported by Gobbi et al in 1987. Among few reports of 5p- syndrome with epilepsy, three cases including ours have reflex periodic spasms. We suggest that reflex periodic spasms are specific seizure pattern to 5p- syndrome. Conclusion Periodic spasms are specific seizure pattern to 5p- syndrome.
Keywords
5p-syndrome, periodic spasm, eating induced epilepsy
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