4p- Syndrome: A Chromosomal Disorder Associated with a Particular EEG Pattern


Address correspondence and reprint requests to Dr. Vincenzo Sgrò, Centro Regionale per l'Epilessia, Ospedale San Paolo, Via di Rudini, 8, 20142, Milan, Italia.


Summary: We report an electroclinical and cytogeneticstudy of 4 patients with Wolf-Hirschhorn syndrome (WHS). In all cases, we observed a stereotyped EEG and clinical picture characterized by generalized or unilateral myoclonic seizures followed later by brief atypical absences. Electrographically, these were accompanied by a sequence of centroparietal or parietotemporal sharp waves; high-voltage wave with a superimposed spike becoming unusual spike-wave complexes, often elicited byeye closure; bursts of diffuse spikes and waves; and frequent jerks. This electroclinical pattern is very similar to the one described in Angelman syndrome (AS) in which a defect in GABAA receptor function has been suggested. Moreover, the genes encoding the GABAA receptor subunit have been mapped to the p12–pl3 bands of chromosome 4. Even though the deletion in these cases does not encompass the 4p12–p13 region, we suggest that the electroclinical picture common to WHS and AS might represent a characteristic type of epilepsy linked to a common genetic abnormality.