Abstract:
BACKGROUND:Wolf-Hirschhorn syndrome (WHS) is a well-known clinical entity caused by partial deletion of the short arm of one chromosome 4 (4p- syndrome). Seizures occur in almost all the cases, but studies on the electroclinical disorder and its evolution are still scarce. We present a longitudinal study of the electroclinical features in 10 children with WHS. METHODS:Ten patients (five boys and five girls) underwent a detailed clinical assessment and a prolonged EEG study. Six of the 10 also had video-polygraphy. RESULTS:Nine of the 10 patients had seizures; they were generalized or unilateral clonic and tonic-clonic, and atypical absences associated with myoclonic jerks. Age at onset of seizures varied from 1 day to 2.5 years. In all the patients, including the only one without seizures, two stereotyped EEG patterns were observed, consisting of (a) bursts of rhythmic (3-5 Hz), high-voltage slow waves located in the posterior regions and increased by sleep, or bursts of rapid spike-wave complexes in the centroparietal and parietooccipital regions; and (b) repetitive rapid posterior spikes. Sleep organization was constantly absent or very poor. The evolution of epilepsy was frequently good, with four seizure-free cases at the end of follow-up, two of them weaned from antiepileptic drugs (AEDs). CONCLUSIONS:Seizure onset in WHS also can occur at neonatal age. At least two electrical stereotyped patterns of the epileptic disorder are associated with a relevant disorganization of the sleep states. Prognosis of epilepsy is generally good both for the seizure control and for its evolution.
journal_name
Epilepsiajournal_title
Epilepsiaauthors
Battaglia D,Zampino G,Zollino M,Mariotti P,Acquafondata C,Lettori D,Pane M,Vasta I,Neri G,Dravet C,Guzzetta Fdoi
10.1046/j.1528-1157.2003.63502.xsubject
Has Abstractpub_date
2003-09-01 00:00:00pages
1183-90issue
9eissn
0013-9580issn
1528-1167pii
63502journal_volume
44pub_type
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