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Updated: Aug 25, 2025
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Published on: September 6, 2017
Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS)
Carol M Stephens1,2, Andreea M Pavel1,2,3, Sean R Mathieson1,2
1INFANT Research Centre, University College Cork, Cork, Ireland.
Insights
Pallister Killian Syndrome (PKS) is a rare genetic disorder. This study details two neonatal cases with unique electroencephalogram (EEG) findings and seizures, previously undocumented in early PKS.
Area of Science:
- Genetics
- Neurology
- Pediatrics
Background:
- Pallister Killian Syndrome (PKS) is a rare genetic disorder resulting from mosaic tetrasomy of chromosome 12p.
- Key features include craniofacial dysmorphism, congenital anomalies, and intellectual disability.
- Epilepsy is a common complication, typically manifesting in early childhood with spasms and myoclonic seizures.
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.
