Heterogeneous seizure manifestations in Hypomelanosis of Ito: Report of four new cases and review of the literature

Komi Assogba, Edoardo Ferlazzo, Pasquale Striano, Tiziana Calarese, Nathalie Villeneuve, Ivan Ivanov, Placido Bramanti, Edoardo Sessa, Iliana Pacheva, Pierre Genton

Research output: Contribution to journalArticlepeer-review

Abstract

Hypomelanosis of Ito (HI) is a rare neuroectodermal disorder often associated with mental retardation and epilepsy. We report on four new HI patients presenting with heterogeneous seizure manifestations and we review the literature concerning epileptic seizures in HI. At one extreme, there are patients with generalized seizures well controlled by drug treatment, whereas at the opposite there are patients with severe, often pharmacoresistant, focal seizures. The genetic substrate for HI syndrome is not homogenous and only partially understood. Further researches are required to shed light on the pathogenesis of HI phenotypes.

Original languageEnglish
Pages (from-to)9-16
Number of pages8
JournalNeurological Sciences
Volume31
Issue number1
DOIs
Publication statusPublished - Feb 2010

Keywords

  • Hypomelanosis of Ito
  • Mental retardation
  • Prognosis
  • Review
  • Seizures

ASJC Scopus subject areas

  • Clinical Neurology
  • Psychiatry and Mental health
  • Dermatology

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