- 作者：Lucio Giordano ; Maurizio Viri ; Renato Borgatti ; Monica Lodi ; Patrizia Accorsi ; Francesca Faravelli ; Maria Chiara Ferretti ; Rita Grasso ; Luigi Memo ; Silvia Prola ; Dario Pruna ; Margherita Santucci ; Salvatore Savasta ; Alberto Verrotti ; Antonino Romeo
- 关键词：Pallister&ndash ; Killian syndrome ; Mental retardation ; Epilepsy ; Epileptic spasms ; Focal epilepsy ; Tetrasomy 12 p
- 刊名：European Journal of Paediatric Neurology
- 出版年：2012
- 出版时间：November, 2012
- 年：2012
- 卷：16
- 期：6
- 页码：636-641
- 全文大小：780 K
Background and objectives
Pallister-Killian syndrome (PKS) is a rare genetic disorder caused by a tissue-limited mosaic supernumerary isochromosome 12p. Typical facial dysmorphisms, pigmentary abnormalities, and some major malformations are frequently present. Neurological manifestations include mental retardation, hypotonia, and seizures. Epilepsy incidence ranged from 39 to 59 % in a previously reported series. No specific clinical and EEG phenotype has ever been reported to describe seizure features, electroclinical patterns, and response to therapy in PKS.Methods
This was a multicentre study conducted on 13 Italian children with PKS, as diagnosed by clinical phenotype and confirmed in cultured fibroblasts. All patients underwent several polygraphic video-EEG recordings and brain magnetic resonance imaging.
Results and conclusions
All the patients presented with epilepsy and seizures that started at a mean age of 19 months. In six cases, epilepsy started with epileptic spasms (ES) combined with focal seizures in another case. In four cases, seizures were focal, and this was followed by ES in two patients. In only two cases, epilepsy started with myoclonic seizures, and spasms were never observed. The study provides further evidence that epilepsy is a part of the phenotype of PKS, although a specific clinical and EEG pattern could not be identified. Our cases show how ES with late- or first-year onset is the most common type of seizure. Despite a variable prognosis in terms of response to therapy, a significant proportion of patients achieved good seizure control.