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

Fingerprint

Epilepsy
Isochromosomes
Inborn Genetic Diseases
Seizures
Fibroblasts
Lymphocytes
Phenotype
Incidence
Brain
Pharmaceutical Preparations
Pallister Killian syndrome

ASJC Scopus subject areas

  • Clinical Neurology

Cite this

Epilessia nella Sindrome di Pallister-Killian : Descrizione di un nuovo caso. / Vergaro, R.; Pellicciari, A.; Bernardi, B.; Santucci, M.

In: Bollettino - Lega Italiana contro l'Epilessia, No. 142, 04.2011, p. 160-162.

Research output: Contribution to journalArticle

@article{16a67973b1764ee580a154b79ffccb2c,
title = "Epilessia nella Sindrome di Pallister-Killian: Descrizione di un nuovo caso",
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.",
keywords = "Epilepsy, Isochromosome 12p, Pallister-Killian syndrome",
author = "R. Vergaro and A. Pellicciari and B. Bernardi and M. Santucci",
year = "2011",
month = "4",
language = "Italian",
pages = "160--162",
journal = "Bollettino - Lega Italiana contro l'Epilessia",
issn = "0394-560X",
publisher = "Lega Italiana contro l'Epilessia",
number = "142",

}

TY - JOUR

T1 - Epilessia nella Sindrome di Pallister-Killian

T2 - Descrizione di un nuovo caso

AU - Vergaro, R.

AU - Pellicciari, A.

AU - Bernardi, B.

AU - Santucci, M.

PY - 2011/4

Y1 - 2011/4

N2 - 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.

AB - 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.

KW - Epilepsy

KW - Isochromosome 12p

KW - Pallister-Killian syndrome

UR - http://www.scopus.com/inward/record.url?scp=84887246483&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=84887246483&partnerID=8YFLogxK

M3 - Articolo

SP - 160

EP - 162

JO - Bollettino - Lega Italiana contro l'Epilessia

JF - Bollettino - Lega Italiana contro l'Epilessia

SN - 0394-560X

IS - 142

ER -