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.
|Number of pages||3|
|Journal||Bollettino - Lega Italiana contro l'Epilessia|
|Publication status||Published - Apr 2011|
ASJC Scopus subject areas
- Clinical Neurology