Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS)

Carol M Stephens; Andreea M Pavel; Sean R Mathieson; Niamh McSweeney; Brian McNamara; Michael Moore; Geraldine B Boylan

doi:10.12688/hrbopenres.13493.1

Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS)

HRB Open Res. 2022 Feb 18:5:14. doi: 10.12688/hrbopenres.13493.1. eCollection 2022.

Authors

Carol M Stephens^{1

2}, Andreea M Pavel^{1

2

3}, Sean R Mathieson^{1

2}, Niamh McSweeney^{2

4}, Brian McNamara⁵, Michael Moore⁶, Geraldine B Boylan^{1

2}

Affiliations

¹ INFANT Research Centre, University College Cork, Cork, Ireland.
² Department of Paediatrics and Child Health, University College Cork, Cork, Ireland.
³ Department of Neonatology, Cork University Maternity Hospital, Cork, Ireland.
⁴ Department of Paediatric Neurology, Cork University Hospital, Cork, Ireland.
⁵ Department of Neurophysiology, Cork University Hospital, Cork, Ireland.
⁶ Department of Radiology, Cork University Hospital, Cork, Ireland.

Abstract

Pallister Killian Syndrome (PKS) is a rare genetic disorder caused by a mosaic tetrasomy of the short arm of chromosome 12. The syndrome is characterised by typical craniofacial dysmorphism, congenital anomalies and intellectual disability. Epilepsy is a known complication, with onset usually occurring in early childhood and characterised most commonly by spasms and myoclonic seizures. To the best of our knowledge, there have been no cases describing the early neonatal EEG in PKS and electrographic seizures, to date. Here, we report two cases of PKS presenting in the neonatal period with distinctive EEG features and seizures.

Keywords: Neonatal seizures; Pallister-Killian Syndrome; electroencephalography (EEG); epilepsy.

Publication types

Case Reports

Grants and funding

Health Research Board [CDA-2018-008]. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.