Electroclinical patterns and evolution of epilepsy in the 4p- syndrome

Epilepsia. 2003 Sep;44(9):1183-90. doi: 10.1046/j.1528-1157.2003.63502.x.


Background: Wolf-Hirschhorn syndrome (WHS) is a well-known clinical entity caused by partial deletion of the short arm of one chromosome 4 (4p- syndrome). Seizures occur in almost all the cases, but studies on the electroclinical disorder and its evolution are still scarce. We present a longitudinal study of the electroclinical features in 10 children with WHS.

Methods: Ten patients (five boys and five girls) underwent a detailed clinical assessment and a prolonged EEG study. Six of the 10 also had video-polygraphy.

Results: Nine of the 10 patients had seizures; they were generalized or unilateral clonic and tonic-clonic, and atypical absences associated with myoclonic jerks. Age at onset of seizures varied from 1 day to 2.5 years. In all the patients, including the only one without seizures, two stereotyped EEG patterns were observed, consisting of (a) bursts of rhythmic (3-5 Hz), high-voltage slow waves located in the posterior regions and increased by sleep, or bursts of rapid spike-wave complexes in the centroparietal and parietooccipital regions; and (b) repetitive rapid posterior spikes. Sleep organization was constantly absent or very poor. The evolution of epilepsy was frequently good, with four seizure-free cases at the end of follow-up, two of them weaned from antiepileptic drugs (AEDs).

Conclusions: Seizure onset in WHS also can occur at neonatal age. At least two electrical stereotyped patterns of the epileptic disorder are associated with a relevant disorganization of the sleep states. Prognosis of epilepsy is generally good both for the seizure control and for its evolution.

MeSH terms

  • Child
  • Child, Preschool
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 4 / genetics*
  • Electroencephalography / methods*
  • Epilepsy / genetics*
  • Epilepsy / physiopathology*
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Longitudinal Studies
  • Magnetic Resonance Imaging / methods
  • Male
  • Phenotype
  • Syndrome
  • Tomography, X-Ray Computed / methods