Electroclinical patterns and evolution of epilepsy in the 4p-syndrome

被引:30
作者
Battaglia, D
Zampino, G
Zollino, M
Mariotti, P
Acquafondata, C
Lettori, D
Pane, M
Vasta, I
Neri, G
Dravet, C
Guzzetta, F [1 ]
机构
[1] Catholic Univ Rome, Sch Med, Dept Child Neurol & Psychiat, I-00168 Rome, Italy
[2] Catholic Univ Rome, Sch Med, Dept Med Genet, I-00168 Rome, Italy
[3] Catholic Univ Rome, Sch Med, Inst Pediat, I-00168 Rome, Italy
关键词
Wolf-Hirschhorn syndrome; electroclinical patterns; epileptic evolution;
D O I
10.1046/j.1528-1157.2003.63502.x
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
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 front I 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 Lit 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.
引用
收藏
页码:1183 / 1190
页数:8
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