Epilepsy in Wolf-Hirschhorn syndrome (4p-).
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.
Kagitani-Shimono
Kuriko
K
Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan. kuriko@ped.med.osaka-u.ac.jp
Imai
Katsumi
K
Otani
Kazumasa
K
Kamio
Noriko
N
Okinaga
Takeshi
T
Toribe
Yasuhisa
Y
Suzuki
Yasuhiro
Y
Ozono
Keiichi
K
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
D001965:Bromides; D017670:Sodium Compounds; C027938:sodium bromide