Introduction: Pallister-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. Methods: we report 3 PKS patients, with early-onset myoclonic epilepsy and photosensitivity. In these children, we analysed epileptic history and the EEG phenotype. Results: Epilepsy 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. Conclusions: early-onset myoclonic epilepsy is a possible clinical manifestation of PKS. Low frequency photosensitivity is a peculiar bioelectrical marker in these children.

Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome / E. Ricci, R. Bonfatti, A. Rocca, G. Sperti, V. Cagnazzo, A. Vignoli, G. Cocchi, D.M. Cordelli. - In: EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. - ISSN 1090-3798. - 23:4(2019 Jul), pp. 653-656. [10.1016/j.ejpn.2019.05.012]

Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome

E. Ricci;A. Vignoli;G. Cocchi
Penultimo
;
2019-07

Abstract

Introduction: Pallister-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. Methods: we report 3 PKS patients, with early-onset myoclonic epilepsy and photosensitivity. In these children, we analysed epileptic history and the EEG phenotype. Results: Epilepsy 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. Conclusions: early-onset myoclonic epilepsy is a possible clinical manifestation of PKS. Low frequency photosensitivity is a peculiar bioelectrical marker in these children.
Low frequency photic stimulation; Myoclonic epilepsy; Pallister-Killian Syndrome; Photosensitivity
Settore MED/39 - Neuropsichiatria Infantile
Settore MED/03 - Genetica Medica
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Utilizza questo identificativo per citare o creare un link a questo documento: http://hdl.handle.net/2434/654517
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