title: Spectrum of epilepsy and electroencephalogram patterns in Wolf-Hirschhorn syndrome: experience with 87 patients.
abstract: To define the spectrum of epilepsy in Wolf-Hirschhorn syndrome (WHS) better, we studied 87 patients (54 females, 33 males; median age 5.6 years; age range 1-25.6 years) with confirmed 4p16.3 deletion. On the basis of clinical charts, we retrospectively analyzed the evolution of the electroencephalogram (EEG) findings and seizures. Epilepsy occurred in 81 patients (93%) within the first 3 years of life. Sixty out of 81 (74%) had generalized tonic-clonic seizures, which was the only seizure pattern in 32. Tonic spasms occurred in 15 out of 81 (18%), complex partial seizures in 10 out of 81 (12%), and clonic seizures in 6 out of 81 (7%). Seizures were frequently triggered by fever (59 out of 81; 73%), and occurred in clusters in 36 out of 72 (50%). In the same 36 (50%), unilateral or generalized clonic or tonic-clonic status epilepticus occurred during the first 3 years of life. Twenty-seven out of 81 patients (33%) developed atypical absences between 1 and 6 years, accompanied by a myoclonic component involving the eyelids and the hands. Distinctive EEG abnormalities were observed in 73 out of 81 (90%). Epilepsy was well controlled in 65 out of 81 (81%), mainly with valproate and phenobarbital, and improved with age in all. Thirty-two out of 58 (55%) are currently seizure-free. Seizures stopped at a median age of 4 years 6 months. Epilepsy represents a major clinical challenge in WHS; however, it has a good prognosis. Early diagnosis and treatment of atypical absences, subtle and often misdiagnosed, is mandatory.
authors.affiliation: Stella Maris Clinical Research Institute for Child and Adolescent Neurology and Psychiatry, Calambrone, Pisa, Italy. abattaglia@inpe.unipi.it
authors.forename: Agatino
authors.initials: A
authors.lastname: Battaglia
authors.forename: Tiziana
authors.initials: T
authors.lastname: Filippi
authors.forename: Sarah T
authors.initials: ST
authors.lastname: South
authors.forename: John C
authors.initials: JC
authors.lastname: Carey
mesh_terms: D000293:Adolescent; D000328:Adult; D000927:Anticonvulsants / Q000627:therapeutic use; D002648:Child; D002675:Child, Preschool; D003951:Diagnostic Errors; D042241:Early Diagnosis; D004569:Electroencephalography; D004827:Epilepsy / Q000175:diagnosis* / Q000188:drug therapy / Q000209:etiology / Q000503:physiopathology*; D004832:Epilepsy, Absence / Q000175:diagnosis / Q000503:physiopathology; D017029:Epilepsy, Complex Partial / Q000175:diagnosis / Q000503:physiopathology; D004830:Epilepsy, Tonic-Clonic / Q000175:diagnosis / Q000503:physiopathology; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D008499:Medical Records; D020190:Myoclonic Epilepsy, Juvenile / Q000175:diagnosis / Q000503:physiopathology; D011379:Prognosis; D012189:Retrospective Studies; D013226:Status Epilepticus / Q000175:diagnosis / Q000503:physiopathology; D011795:Surveys and Questionnaires; D016896:Treatment Outcome; D054877:Wolf-Hirschhorn Syndrome / Q000150:complications* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology*; D055815:Young Adult
chemical_list: D000927:Anticonvulsants