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Myoclonic epilepsy with photosensitivity in infants with Pallister-Killian Syndrome

Emilia Ricci1, Rocco Bonfatti2, Alessandro Rocca3

  • 1Child Neurology and Psychiatry Unit, Department of Medical and Surgical Sciences (DIMEC), S. Orsola Hospital, University of Bologna, Bologna, Italy; Epilepsy Center, Health Sciences Department, Università degli Studi di Milano, San Paolo Hospital, Milan, Italy.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|June 11, 2019
PubMed

Insights

Pallister-Killian Syndrome (PKS) can present with early-onset myoclonic epilepsy and photosensitivity. Low-frequency photic stimulation is a key trigger for seizures in these children.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Pallister-Killian Syndrome (PKS) is a rare genetic disorder characterized by mosaic tetrasomy of the short arm of chromosome 12.
  • Epilepsy is a common comorbidity in individuals diagnosed with PKS.

Observation:

  • This study reports on three pediatric patients with PKS.
  • All patients exhibited early-onset myoclonic epilepsy, with onset within the first two years of life.
  • Photosensitivity was a consistent finding, with myoclonic seizures primarily triggered by low-frequency intermittent photic stimulation (1-6 Hz).

Findings:

  • Early-onset myoclonic epilepsy is a significant clinical manifestation in PKS.
  • Low-frequency photosensitivity serves as a distinctive electroencephalogram (EEG) biomarker in PKS patients.
  • Levetiracetam demonstrated efficacy and good tolerability in the two treated patients.

Implications:

  • Recognizing early-onset myoclonic epilepsy and photosensitivity is crucial for the diagnosis and management of PKS.
  • This highlights the importance of EEG phenotyping in PKS patients.
  • Further research into the neurological aspects of PKS is warranted.
Abstract

Keywords:
Low frequency photic stimulationMyoclonic epilepsyPallister-Killian SyndromePhotosensitivity

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