Long-term outcome of epilepsy in patients with Prader-Willi syndrome

J Neurol. 2015 Jan;262(1):116-23. doi: 10.1007/s00415-014-7542-1. Epub 2014 Oct 18.

Abstract

Prader-Willi syndrome is a multisystemic genetic disorder that can be associated with epilepsy. There is insufficient information concerning the clinical and electroencephalographic characteristics of epilepsy and the long-term outcome of these patients. The aim of this study is to describe seizure types, electroencephalographic patterns and long-term seizure outcome in Prader-Willi syndrome patients suffering from epilepsy. We retrospectively studied 38 patients with Prader-Willi syndrome and seizures. Results of neuroimaging studies were obtained for 35 individuals. We subdivided these patients into two groups: group A, 24 patients, without brain lesions; and group B, 11 patients, with brain abnormalities. All patients were re-evaluated after a period of at least 10 years. Twenty-one patients (55.2 %) were affected by generalized epilepsy and 17 patients (44.8 %) presented focal epilepsy. The most common seizure type was generalized tonic-clonic seizure. The mean age at seizure onset was 4.5 years (ranged from 1 month to 14 years). In the follow-up period, seizure freedom was achieved in 32 patients (84.2 %). Seizure freedom was associated with electroencephalographic normalization, while the six children presenting drug-resistant epilepsy showed persistence of electroencephalographic abnormalities. Group B patients showed a higher prevalence of drug-resistant epilepsy. Patients with Prader-Willi syndrome were frequently affected by generalized seizures. Most of the patients had a favorable evolution, although, patients with brain abnormalities presented a worse outcome, suggesting that the presence of these lesions can influence the response to antiepileptic therapy.

MeSH terms

  • Adolescent
  • Child
  • Child, Preschool
  • Disease Progression*
  • Electroencephalography
  • Epilepsies, Partial / drug therapy
  • Epilepsies, Partial / etiology
  • Epilepsies, Partial / pathology
  • Epilepsies, Partial / physiopathology*
  • Epilepsy, Generalized / drug therapy
  • Epilepsy, Generalized / etiology
  • Epilepsy, Generalized / pathology
  • Epilepsy, Generalized / physiopathology*
  • Female
  • Follow-Up Studies
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Male
  • Outcome Assessment, Health Care*
  • Prader-Willi Syndrome / complications
  • Prader-Willi Syndrome / pathology
  • Prader-Willi Syndrome / physiopathology*