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Eur J Pediatr. 2001 Feb;160(2):123-7.

A characteristic EEG pattern in 4p-syndrome: case report and review of the literature.

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  • 1Division of Medical Genetics, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland. zankl@medgen.unizh.ch

Abstract

Deletions 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 congenital malformations. The PRDS phenotype is similar to WHS but generally less severe. Seizures occur in the majority of WHS and PRDS patients. Sgrò et al. [17] described a stereotypic electroclinical pattern in four unrelated WHS patients, consisting of intermittent bursts of 2-3 Hz high voltage slow waves with spike wave activity in the parietal areas during drowsiness and sleep associated with myoclonic jerks. We report a patient with PRDS and the typical EEG pattern and review 14 WHS patients with similar EEG findings reported in the literature.

CONCLUSION:

Awareness and recognition of the characteristic electroclinical findings in Wolf-Hirschhorn syndrome and Pitt-Rogers-Danks syndrome might help in the early diagnosis of such patients.

PMID:
11271384
[PubMed - indexed for MEDLINE]
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