A case of Wolf-Hirschhorn syndrome progressing to resistant epilepsy

Pediatr Neurol. 2007 Aug;37(2):140-3. doi: 10.1016/j.pediatrneurol.2007.04.016.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics
  • Abnormalities, Multiple / physiopathology*
  • Anticonvulsants / therapeutic use
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 4
  • Disease Progression
  • Drug Resistance
  • Electroencephalography
  • Epilepsies, Myoclonic / drug therapy
  • Epilepsies, Myoclonic / genetics
  • Epilepsies, Myoclonic / physiopathology*
  • Female
  • Humans
  • Intellectual Disability / genetics
  • Intellectual Disability / physiopathology*
  • Phenotype
  • Status Epilepticus / drug therapy
  • Status Epilepticus / genetics
  • Status Epilepticus / physiopathology*
  • Syndrome

Substances

  • Anticonvulsants