1. Seizures and EEG patterns in Pallister-Killian syndrome: 13 new Italian patients
- Author
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Antonino Romeo, Renato Borgatti, Lucio Giordano, Maurizio Viri, Silvia Prola, Alberto Verrotti, Francesca Faravelli, Rita Grasso, Maria Chiara Ferretti, Dario Pruna, Monica Lodi, Margherita Santucci, Salvatore Savasta, Luigi Memo, Patrizia Accorsi, L.Giordano, M.Viri, R.Borgatti, M.Lodi, P.Accorsi, F.Faravelli, MC.Ferretti, R.Grasso, L.Memo, S.Prola, D.Pruna, M.Santucci, S.Savasta, A.Verrotti, and A.Romeo
- Subjects
Male ,Pediatrics ,MENTAL RETARDATION ,Chromosome Disorders ,Electroencephalography ,Epilepsy ,Epileptic spasms ,Focal epilepsy ,Mental retardation ,Pallister-Killian syndrome ,Tetrasomy 12 p ,Adolescent ,Age of Onset ,Child ,Child, Preschool ,Chromosomes, Human, Pair 12 ,Electromyography ,Female ,Fibroblasts ,Humans ,Infant ,Italy ,Magnetic Resonance Imaging ,Seizures ,Tetrasomy ,Treatment Outcome ,Pediatrics, Perinatology and Child Health ,Neurology (clinical) ,Pallister–Killian syndrome ,Pair 12 ,EPILEPTIC SPASMS ,PALLISTER-KILLIAN SYNDROME ,EPILEPSY ,medicine.diagnostic_test ,Genetic disorder ,General Medicine ,Perinatology and Child Health ,Hypotonia ,medicine.symptom ,Human ,medicine.medical_specialty ,Chromosomes ,medicine ,Supernumerary ,Preschool ,business.industry ,medicine.disease ,Surgery ,FOCAL EPILEPSY ,Age of onset ,business - Abstract
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.
- Published
- 2011