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Epilepsy in patients with Cornelia de Lange syndrome: a clinical series

Alberto Verrotti1, Sergio Agostinelli, Giovanni Prezioso

  • 1Department of Pediatrics, University of Chieti, Chieti, Italy.

Seizure
|March 12, 2013
PubMed

Insights

Epilepsy in Cornelia de Lange syndrome (CdLS) often presents as partial seizures. Most children with CdLS and epilepsy achieve seizure freedom with medication, indicating a favorable long-term prognosis.

Area of Science:

  • Neurology
  • Genetics
  • Pediatrics

Background:

  • Cornelia de Lange syndrome (CdLS) is a genetic disorder associated with congenital anomalies and intellectual disability.
  • Epilepsy affects approximately 20% of individuals with CdLS, but its specific characteristics and prognosis are poorly understood.

Purpose of the Study:

  • To investigate the electroclinical features and long-term prognosis of epilepsy in pediatric patients with Cornelia de Lange syndrome.

Main Methods:

  • A clinical series of fourteen Caucasian pediatric patients diagnosed with CdLS and epilepsy was analyzed.
  • Data collected included seizure types, EEG findings, treatment regimens, and long-term outcomes.

Main Results:

  • Epilepsy onset ranged from 0.6 to 16.3 years. The majority (64.3%) experienced partial seizures, with focal paroxysms often seen in temporal and parietal areas on EEG.
  • Thirteen out of fourteen patients (92.9%) became seizure-free with treatment, most commonly with valproate monotherapy.
  • At follow-up (mean 8.2 years), 13 patients were seizure-free, with three still on medication.

Conclusions:

  • Partial epilepsy is the predominant seizure type in children with CdLS.
  • The long-term prognosis for epilepsy in CdLS patients is generally favorable, with a high likelihood of achieving seizure control and potential medication withdrawal.
Abstract

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