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

Détails

ID Serval
serval:BIB_F271DBF251E0
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
A characteristic EEG pattern in 4p-syndrome: case report and review of the literature.
Périodique
European Journal of Pediatrics
Auteur(s)
Zankl A., Addor M.C., Maeder-Ingvar M.M., Schorderet D.F.
ISSN
0340-6199
Statut éditorial
Publié
Date de publication
2001
Peer-reviewed
Oui
Volume
160
Numéro
2
Pages
123-127
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Review
Résumé
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.
Mots-clé
Abnormalities, Multiple, Child, Preschool, Chromosomes, Human, Pair 4, Electroencephalography, Epilepsy, Gene Deletion, Humans, In Situ Hybridization, Fluorescence, Syndrome
Pubmed
Web of science
Création de la notice
28/02/2008 12:52
Dernière modification de la notice
03/03/2018 22:40
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