Down syndrome with congenital hydrocephalus: case report

• Autor(a) principal: Forcelini,Cassiano Mateus
• Data de Publicação: 2006
• Outros Autores: Mallmann,Adroaldo Baseggio, Crusius,Paulo Sérgio, Seibert,Cláudio Albano, Crusius,Marcelo Ughini, Zandoná,Denise Isabel, Carazzo,Charles, Crusius,Cassiano Ughini, Goellner,Eduardo, Ragnini,Jean, Manzato,Luciano Bambini, Winkelmann,Gustavo, Lima,Aline Vieira, Bauermann,Manfred Georg
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Arquivos de neuro-psiquiatria (Online)
• Texto Completo: http://old.scielo.br/scielo.php?script=sci_arttext&pid=S0004-282X2006000500031
• topic: Down syndrome; hydrocephalus; malformation

Down syndrome is the most frequent genetic cause of mental retardation. Although usually presenting dysmorphic features and organ malformations, it is rarely associated with congenital hydrocephalus. The case of male neonate whose hydrocephalus was detected since the pregnancy and was discovered to have the syndrome at birth is reported. Chromosomal analysis confirmed the genetic disorder, and hydrocephalus was treated with ventriculoperitoneal shunt because of abnormal increase of head circumference. The patient has been accompanied and his development is considered normal when compared to the expected for those affected by the syndrome.