Epilessia nella Sindrome di Pallister-Killian: Descrizione di un nuovo caso

Translated title of the contribution: Epilepsy in Pallister-Killian syndrome: A report of a new case

R. Vergaro, A. Pellicciari, B. Bernardi, M. Santucci

Research output: Contribution to journalArticle

Abstract

Pallister-Killian syndrome is a rare, sporadic, genetic disorder characterized by dysmorphic features, developmental delay and multiple major malformations. It is due to the presence of a mosaic supernumerary isochromosome (12p), rarely found in peripheral lymphocytes but detectable in cultured fibroblasts and only in certain tissues. Epilepsy incidence ranges from 40 to 60% in the previously reported series. No specific clinical and electroencephalographic phenotype was never reported. We report the case of a 3 year-old-boy with Pallister-Killian syndrome, having early-onset, drug-resistant, frequent mioclonic seizures, triggered by luminous stimulus. Brain MRI showed the presence of polymicrogyric areas, which are an unusual finding in this syndrome.

Original languageItalian
Pages (from-to)160-162
Number of pages3
JournalBollettino - Lega Italiana contro l'Epilessia
Issue number142
Publication statusPublished - Apr 2011

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ASJC Scopus subject areas

  • Clinical Neurology

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