Case Report: Early Neonatal EEG in Two Infants with Pallister Killian Syndrome (PKS) [version 1; peer review: 2 approved]

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
• electroencephalography (EEG)
• Pallister-Killian Syndrome
• epilepsy
• eng