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Seizures and EEG patterns in Pallister-Killian syndrome: 13 new Italian patients

Lucio Giordano1, Maurizio Viri, Renato Borgatti

  • 1Child Neuropsychiatric Unit, Civile Hospital, Brescia, Italy.

European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|April 3, 2012
PubMed

Insights

Epilepsy is common in Pallister-Killian syndrome (PKS), often starting with epileptic spasms in infancy. While a specific EEG pattern isn't identified, many PKS patients achieve good seizure control with treatment.

Area of Science:

  • Genetics
  • Neurology
  • Pediatrics

Background:

  • Pallister-Killian syndrome (PKS) is a rare genetic disorder characterized by a mosaic supernumerary isochromosome 12p.
  • Clinical features include dysmorphisms, pigmentary abnormalities, major malformations, and neurological issues like intellectual disability, hypotonia, and seizures.
  • Epilepsy affects 39-59% of PKS patients, but specific seizure characteristics and EEG patterns remain undescribed.

Purpose of the Study:

  • To investigate the clinical and electroencephalographic (EEG) features of epilepsy in children with Pallister-Killian syndrome.
  • To describe seizure types, onset, electroclinical patterns, and response to therapy in PKS.
  • To determine if a specific epilepsy phenotype exists in PKS.

Main Methods:

  • A multicentre study involving 13 Italian children diagnosed with PKS.
  • Clinical diagnosis confirmed by fibroblast analysis.
  • All patients underwent polygraphic video-EEG recordings and brain MRI.

Main Results:

  • All 13 PKS patients presented with epilepsy and seizures, with onset at a mean age of 19 months.
  • Epileptic spasms (ES) were the most common initial seizure type (6/13), often with late-onset or first-year onset.
  • Focal seizures occurred in some patients, sometimes preceding ES; myoclonic seizures were less common and never associated with spasms.

Conclusions:

  • Epilepsy is an integral part of the Pallister-Killian syndrome phenotype.
  • No distinct clinical or EEG pattern for epilepsy in PKS was identified.
  • Epileptic spasms with onset in the first year of life are the most frequent seizure type, and a significant proportion of patients achieve good seizure control.
Abstract

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