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Case Reports
. 2022 Feb 18:5:14.
doi: 10.12688/hrbopenres.13493.1. eCollection 2022.

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

Carol M Stephens  1   2 , Andreea M Pavel  1   2   3 , Sean R Mathieson  1   2 , Niamh McSweeney  2   4 , Brian McNamara  5 , Michael Moore  6 , Geraldine B Boylan  1   2
Affiliations
Case Reports

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

Carol M Stephens et al. HRB Open Res. .

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.

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Conflict of interest statement

No competing interests were disclosed.

Figures

Figure 1.
Figure 1.
( a– f) EEG recordings. (EEG displayed at sensitivity 70μV/cm, time-base 15mm/sec. aEEG displayed at 6cm/sec). ( a) Case One: Electrographic seizure at 59 hrs of life consisting of generalised sharp and slow wave complexes with clear aEEG correlate (*). Sleep-wake cycling poorly defined at the beginning of the recording but improves over time as demonstrated on the aEEG (**). ( b) Case One: Dysynchrony in Quiet Sleep at 61hrs of life. ( c) Case One: Prolonged discontinuity in Quiet Sleep at 61 hrs of life. ( d) Case Two: cEEG at 56 hrs of life showing prolonged suppression in Quiet Sleep. High amplitude activity with multifocal sharp waves. ( e) Case Two: Myoclonic jerk (during Quiet sleep at 35 hours of life showing high amplitude movement activity followed by brief suppression. ( f) Case Two: Active Sleep showing continuous activity but excessively low frequencies on the background pattern for gestational age at 37 hours of life (example highlighted).
Figure 2.
Figure 2.
( a– f)- Brain MRI. Case One: ( a) Thinning of the body of the corpus callosum. The rostrum and splenium appear blunted, likely representing partial dysgenesis, ( b) Bilateral polymicrogyria in the posterosuperior aspects of the sylvian fissures, ( c) Marked restriction within the periventricular regions bilaterally - involving the heterotopic grey matter. Case Two: ( d) Sagital T1 View: Partial agenesis of Corpus Callosum posteriorl, ( e) Coronal T2 View: Mild bilateral perisylvian microgyria, ( f) Axial T2 View: Bilateral Cystic dilatation of vestibules.
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