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

• Published in: European journal of pediatrics Vol. 160; no. 2; pp. 123 - 127
• Main Authors: ZANKL, Andreas, ADDOR, Marie-Claude, MAEDER-INGVAR, Malin, SCHORDERET, Daniel F
• Format: Journal Article
• Language: English
• Published: Heidelberg Springer 01.02.2001; Berlin Springer Nature B.V
• Subjects: Abnormalities, Multiple - diagnosis; Abnormalities, Multiple - genetics; Abnormalities, Multiple - physiopathology; Biological and medical sciences; Child, Preschool; Chromosomes, Human, Pair 4 - genetics; Electrodiagnosis. Electric activity recording; Electroencephalography; Epilepsy - genetics; Epilepsy - physiopathology; Gene Deletion; Humans; In Situ Hybridization, Fluorescence; Investigative techniques, diagnostic techniques (general aspects); Literature reviews; Medical sciences; Nervous system; Syndrome; Human; Wolf Hirschhorn syndrome; Electroencephalography; Chromosome 4; Case study; Electrodiagnosis; Malformation; Risk factor; Deletion; Genetics; Complex syndrome; Pitt Rogers Danks syndrome; Child; Bibliographic review
• ISSN: 0340-6199; 1432-1076
• DOI: 10.1007/s004310000679

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. 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.