Spectrum of Epilepsy and Electroencephalogram Patterns in Wolf-Hirschhorn Syndrome: Experience with 87 Patients

Autor/inn/en	Battaglia, Agatino; Filippi, Tiziana; South, Sarah T.; Carey, John C.
Titel	Spectrum of Epilepsy and Electroencephalogram Patterns in Wolf-Hirschhorn Syndrome: Experience with 87 Patients
Quelle	In: Developmental Medicine & Child Neurology, 51 (2009) 5, S.373-380 (8 Seiten) PDF als Volltext Verfügbarkeit
Sprache	englisch
Dokumenttyp	gedruckt; online; Zeitschriftenaufsatz
ISSN	0012-1622
DOI	10.1111/j.1469-8749.2008.03233.x
Schlagwörter	Age Differences; Epilepsy; Seizures; Identification; Medicine; Patients; Diagnostic Tests; Genetic Disorders; Children; Adolescents; Adults; Drug Therapy; Clinical Diagnosis + Suchen Sie Ihr Suchwort? Age; Difference; Age difference; Altersunterschied; Epilepsie; Anfallsleiden; Identifikation; Identifizierung; Medizin; Patient; Diagnostic test; Diagnostischer Test; Child; Kind; Kinder; Adolescent; Adolescence; Adoleszenz; Jugend; Jugendalter; Jugendlicher
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. (As Provided).
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Update	2017/4/10