A characteristic EEG pattern in 4p-syndrome: case report and review of theliterature

xDeletions on the short arm of chromosome 4 cause Wolf-Hirschhorn syndrome (WHS) and Pitt-Rogers-Danks syndrome (PRDS). WHS is associated with severe growth and mental retardation, microcephaly, a characteristic facies and co ngenital malformations. The PRDS phenotype is similar to WHS but generally less severe. Seizures occur in the majority of WHS and PRDS patients. Sgro et al. [17] described a stereotypic electroclinical pattern in four unrelat ed WHS patients, consisting of intermittent bursts of 2-3 Hz high voltage s low waves with spike wave activity in the parietal areas during drowsiness and sleep associated with myoclonic jerks. We report a patient with PRDS an d the typical EEG pattern and review 14 WHS patients with similar EEG findi ngs reported in the literature. Conclusion Awareness and recognition of the characteristic electroclinical findings in Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome might h elp in the early diagnosis of such patients.