Stephens Carol M, Pavel Andreea M, Mathieson Sean R, McSweeney Niamh, McNamara Brian, Moore Michael, Boylan Geraldine B
INFANT Research Centre, University College Cork, Cork, Ireland.
Department of Paediatrics and Child Health, University College Cork, Cork, Ireland.
HRB Open Res. 2022 Feb 18;5:14. doi: 10.12688/hrbopenres.13493.1. eCollection 2022.
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.
帕利斯特-基利安综合征(PKS)是一种罕见的遗传性疾病,由12号染色体短臂的嵌合性四体性引起。该综合征的特征是典型的颅面部畸形、先天性异常和智力障碍。癫痫是一种已知的并发症,通常在儿童早期发病,最常见的表现为痉挛和肌阵挛发作。据我们所知,迄今为止,尚无关于PKS早期新生儿脑电图及癫痫样放电的病例报道。在此,我们报告两例新生儿期出现的PKS病例,其脑电图具有独特特征且伴有癫痫发作。