A case of Wolf-Hirschhorn syndrome progressing to resistant epilepsy

Unalp A., Uran N., Giray Ö., Ercal D.

PEDIATRIC NEUROLOGY, cilt.37, sa.2, ss.140-143, 2007 (SCI-Expanded, Scopus) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 37 Sayı: 2
  • Basım Tarihi: 2007
  • Doi Numarası: 10.1016/j.pediatrneurol.2007.04.016
  • Dergi Adı: PEDIATRIC NEUROLOGY
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.140-143
  • Dokuz Eylül Üniversitesi Adresli: Evet

Özet

Wolf-Hirschhorn syndrome is defined by a collection of core characteristics that include mental retardation, epilepsy, growth delay, and craniofacial dysgenesis. The disorder is caused by subtelomeric deletions in the short arm of chromosome 4. The syndrome, as described in the literature, may have a progression to resistant seizures and status epilepticus, which may then exhibit specific electroencephalographic findings. This study investigates a 3-year-old girl presenting with the classic phenotype for Wolf-Hirschhorn syndrome, confirmed by fluorescence in situ hybridization. Here we describe and discuss this patient, who initially presented with myoclonic seizures but then had a progression toward resistant epilepsy, along with electroencephalographic findings specific to Wolf-Hirschhorn syndrome. (c) 2007 by Elsevier Inc. All rights reserved.