Epilepsy in Wolf‐Hirschhorn Syndrome (4p‐)

• Published in: Epilepsia (Copenhagen) Vol. 46; no. 1; pp. 150 - 155
• Main Authors: Kagitani‐Shimono, Kuriko, Imai, Katsumi, Otani, Kazumasa, Kamio, Noriko, Okinaga, Takeshi, Toribe, Yasuhisa, Suzuki, Yasuhiro, Ozono, Keiichi
• Format: Journal Article
• Language: English
• Published: 350 Main Street , Malden , MA 02148 , USA and 9600 Garsington Road , Oxford , OX4 2XG , England Blackwell Science Inc 01-01-2005; Blackwell
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Adolescent; Anticonvulsants. Antiepileptics. Antiparkinson agents; Biological and medical sciences; Bromide; Bromides - therapeutic use; Child; Child, Preschool; Chromosome Deletion; Chromosomes, Human, Pair 4 - genetics; Complex syndromes; Electroencephalography - statistics & numerical data; Epilepsy - diagnosis; Epilepsy - drug therapy; Epilepsy - genetics; Facies; Female; Headache. Facial pains. Syncopes. Epilepsia. Intracranial hypertension. Brain oedema. Cerebral palsy; Humans; Japan; Male; Medical genetics; Medical sciences; Nervous system (semeiology, syndromes); Neurology; Neuropharmacology; Pharmacology. Drug treatments; Sodium Compounds - therapeutic use; Status epilepticus; Status Epilepticus - diagnosis; Status Epilepticus - genetics; Status Epilepticus - prevention & control; Translocation, Genetic - genetics; Wolf‐Hirschhorn syndrome; Japan; Nervous system diseases; Wolf Hirschhorn syndrome; Malformation; Epilepsy; Wolf-Hirschhorn syndrome-Status epilepticus-Bromide; Central nervous system disease; Complex syndrome; Cerebral disorder
• ISSN: 0013-9580; 1528-1167
• DOI: 10.1111/j.0013-9580.2005.02804.x

Purpose: 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.