Síndromes polimalformativos con expresión en el sistema nervioso central/Polymalformative syndromes with expression in the central nervous system

• Published in: Acta pediátrica española Vol. 68; no. 6; p. 301
• Main Authors: Pereda, G Arriola, Pérez, A Verdú, Arrabal, B Blázquez, Oguiza, A García, Matamala, A Ortigado, Bustos, J M Jiménez
• Format: Journal Article
• Language: Spanish
• Published: Madrid Ediciones Mayo 01.06.2010
• Subjects: Birth defects; Nervous system; Pediatrics; Risk factors
• ISSN: 0001-6640

To determine the clinical aspects of polymalformatives syndromes with expression in the central nervous system detected in the neonatal period, and to investigate the associated maternal risk factors. Retrospective study, during the period of January 1976 to December 2005, carried out in the Pediatrics Department of the University Hospital of Guadalajara, Spain. All the newborns in our hospital with polymalformatives syndromes with expression in the central nervous system were included in the study. During the study period 7 children were recorded with congenital defects of the central nervous system and a polymalformative syndrome. The most frequent anomalies were congenital hydrocephalus and neural tube defects. The risk factors found in the study were maternal infections during pregnancy, ionizing radiation, medications and consanguinity. The polymalformatives syndromes with expression in the central nervous system seem to have a multifactorial etiology, comprising both environmental and genetic components.