Revista chilena de pediatría
versión impresa ISSN 0370-4106
VILLOTA D, Vania A; SALDARRIAGA G, Wilmar y GOMEZ C, Juan Fernando. Mowat-Wilson's syndrome: a case report. Rev. chil. pediatr. [online]. 2012, vol.83, n.4, pp. 371-376. ISSN 0370-4106. http://dx.doi.org/10.4067/S0370-41062012000400008.
Introduction: Mowat-Wilson syndrome (MWS) is a very infrequent congenital polimalformative disorder, caused by mutations, deletions or insertions of the ZEB2 gene, which codify for a protein that is involved in the migration of the neural crest cells and the development of middle line structures. The inheritance pattern is autosomal dominant, haplo-insufficient. Objectives: To describe a case of Mowat-Wilson syndrome with typical phenotype. Clinical case: 8 year-old female, with special facie, hard to control seizures, ductus arteriosus, left pulmonary artery stenosis, constipation, severe retardation of psychomotor development and speech retardation. Differential diagnosis of Mowat Wilson syndrome is proposed. Conclusion: Mowat and Wilson syndrome is very rare not well-known; therefore it is important to communicate its features within the pediatric community. In this syndrome multiple organs and systems are involved, so a multidisciplinary approach is mandatory; in order to the objective of adequately intervening in the pathology of each patient, provide adequate information regarding the developmental expectations for the child and genetic and reproductive counseling to the parents.
Palabras clave : Mowat-Wilson's syndrome; Hirschsprung's disease; congenital defects; epilepsy; congenital heart defects; dominant; haplo-insufficient.