Pallister-Killian syndrome: An unusual cause of epileptic spasms

Rocio Sánchez-Carpintero, Ailsa McLellan, Lucio Parmeggiani, Annette E. Cockwell, Richard J. Ellis, J. Helen Cross, Susan Eckhardt, Renzo Guerrini

Research output: Contribution to journalArticlepeer-review

Abstract

Pallister-Killian syndrome (PKS) is a rare, sporadic, genetic disorder characterized by dysmorphic features, learning disability, and epilepsy. It is caused by a mosaic supernumerary isochromosome 12p (i[12p]). The i(12p) is rarely found in peripheral blood but it is present in skin fibroblasts. Recognition is essential for cytogenetic diagnosis. We describe a male aged 2 years 6 months and a female aged 11 years with PKS and epileptic spasms (ES). This type of seizure is not unusual in patients with brain malformations and with severe developmental delay, but it is sometimes difficult to recognize without video-electroencephalogram studies and could be mistaken for other types of seizure or behavioural manifestations. In these two patients with PKS, spasms had late onset, persisted beyond infancy, and were drug resistant. Clinicians should be aware of this possibility in PKS, which appears to be a rare cause of ES.

Original languageEnglish
Pages (from-to)776-779
Number of pages4
JournalDevelopmental Medicine and Child Neurology
Volume47
Issue number11
DOIs
Publication statusPublished - Nov 2005

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Neuroscience(all)

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