title: Epilepsy in Wolf-Hirschhorn syndrome (4p-).
abstract: OBJECTIVE
  We investigated the evolution of epilepsy, seizure types, and effective drugs in Wolf-Hirschhorn syndrome, which is a malformation syndrome often with refractory seizures and status epilepticus.
  
  
  METHODS
  We reviewed 11 cases of Wolf-Hirschhorn syndrome (age range, 2-25 years; SD, 7.2 years) and who were treated in Osaka University or Osaka Medical Center of Research Institute for Maternal and Child Health.
  
  
  RESULTS
  In all patients, febrile or afebrile convulsions had developed. Epileptic seizures included alternative hemiconvulsions, generalized tonic-clonic seizures, focal clonic seizures, tonic seizures, and epileptic spasms. Seizures were often induced by a high fever or a hot bath. Status epilepticus occurred in all patients, including one patient who died at the first status epilepticus. In some cases, intratracheal intubation was needed because of respiratory insufficiency. The effective antiepileptic drugs for long-term use were sodium bromide (four of four), followed by clorazepate (CLP; one of two), and nitrazepam (NZP; two of four). Sodium bromide was particularly effective for preventing status epilepticus. The mean age of last status epilepticus in patients receiving sodium bromide (1 year 8 months) was significantly younger than that in those not treated with sodium bromide (3 year 4 months).
  
  
  CONCLUSIONS
  We identified that, in most patients of Wolf-Hirschhorn syndrome, the frequency of both seizures and status epilepticus decreased gradually after age 5 years. However, during infancy, status epilepticus sometimes resulted in permanent disability or even death. We propose that sodium bromide should be used as the initial treatment for the prevention of the development of status epilepticus associated with Wolf-Hirschhorn syndrome.
authors.affiliation: Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan. kuriko@ped.med.osaka-u.ac.jp
authors.forename: Kuriko
authors.initials: K
authors.lastname: Kagitani-Shimono
authors.forename: Katsumi
authors.initials: K
authors.lastname: Imai
authors.forename: Kazumasa
authors.initials: K
authors.lastname: Otani
authors.forename: Noriko
authors.initials: N
authors.lastname: Kamio
authors.forename: Takeshi
authors.initials: T
authors.lastname: Okinaga
authors.forename: Yasuhisa
authors.initials: Y
authors.lastname: Toribe
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Suzuki
authors.forename: Keiichi
authors.initials: K
authors.lastname: Ozono
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D000293:Adolescent; D001965:Bromides / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002894:Chromosomes, Human, Pair 4 / Q000235:genetics; D004569:Electroencephalography / Q000706:statistics & numerical data; D004827:Epilepsy / Q000175:diagnosis / Q000188:drug therapy / Q000235:genetics*; D019066:Facies; D005260:Female; D006801:Humans; D007564:Japan; D008297:Male; D017670:Sodium Compounds / Q000627:therapeutic use; D013226:Status Epilepticus / Q000175:diagnosis / Q000235:genetics / Q000517:prevention & control; D014178:Translocation, Genetic / Q000235:genetics
chemical_list: D001965:Bromides; D017670:Sodium Compounds; C027938:sodium bromide