ERIC Number: EJ849703
Record Type: Journal
Publication Date: 2009-May
Abstractor: As Provided
Reference Count: 0
Spectrum of Epilepsy and Electroencephalogram Patterns in Wolf-Hirschhorn Syndrome: Experience with 87 Patients
Battaglia, Agatino; Filippi, Tiziana; South, Sarah T.; Carey, John C.
Developmental Medicine & Child Neurology, v51 n5 p373-380 May 2009
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.
Descriptors: Age Differences, Epilepsy, Seizures, Identification, Medicine, Patients, Diagnostic Tests, Genetic Disorders, Children, Adolescents, Adults, Drug Therapy, Clinical Diagnosis
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Publication Type: Journal Articles; Reports - Research
Education Level: N/A
Authoring Institution: N/A