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Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome |
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| Authors: | Emilia Ricci Rocco Bonfatti Alessandro Rocca Giacomo Sperti Valeria Cagnazzo Aglaia Vignoli Guido Cocchi Duccio Maria Cordelli |
| Affiliation: | 1. Child Neurology and Psychiatry Unit, Department of Medical and Surgical Sciences (DIMEC), S. Orsola Hospital, University of Bologna, Bologna, Italy;2. Epilepsy Center, Health Sciences Department, Università degli Studi di Milano, San Paolo Hospital, Milan, Italy;3. Neonatology Unit, Department of Medical and Surgical Sciences (DIMEC), S. Orsola Hospital, University of Bologna, Bologna, Italy |
| Abstract: | IntroductionPallister-Killian Syndrome (PKS) (OMIM #601803) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. Epilepsy is a frequent concern in PKS patients.Methodswe report 3 PKS patients, with early-onset myoclonic epilepsy and photosensitivity. In these children, we analysed epileptic history and the EEG phenotype.ResultsEpilepsy onset was in the first 2 years of life in all patients and in 2 of them myoclonic seizures were the only seizure type. In all children photosensitivity was observed and myoclonic seizures were mainly related to low-frequency (1–6 Hz) intermittent photic stimulation. Levetiracetam was effective and well tolerated in the 2 treated patients.Conclusionsearly-onset myoclonic epilepsy is a possible clinical manifestation of PKS. Low-frequency photosensitivity is a peculiar bioelectrical marker in these children. |
| Keywords: | Pallister-Killian Syndrome Myoclonic epilepsy Photosensitivity Low frequency photic stimulation |
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