title: [Aicardi syndrome with Dandy-Walker type malformation].
abstract: BACKGROUND
  Aicardi syndrome (OMIM 304050) was first described in 1965. Its classic triad consists of infantile spasms, partial or total agenesis of the corpus callosum and ocular disorders, such as chorioretinal lacunae. It has been posited that it is due to a mechanism involving X-linked dominant inheritance.
  
  
  METHODS
  We report the case of a full-term female, with no pathological familial history or parental consanguinity, with a prenatal diagnosis of Dandy-Walker type malformation, who presented convulsions, coloboma of the optic nerve, thoracic vertebral block with presence of scoliosis, transfontanellar ultrasound imaging showing agenesis of the corpus callosum and karyotype 46,XX. She was diagnosed with Aicardi syndrome and died at the age of one and a half months. The autopsy revealed supratentorial hydrocephalus with the presence of choroid plexus papilloma, a cyst in the posterior fossa (fourth ventricle), hypoplasia of the cerebellar vermis, agenesis of the left hemisphere of the corpus callosum and cerebellum, characteristic facial features of the syndrome, ogival palate, pectus excavatum, scoliosis, paraovarian cyst and hepatomegaly.
  
  
  CONCLUSIONS
  Few cases of an association between the pathology and the presence of Dandy-Walker malformation have been described. We report a new case of the association, bearing in mind that the related disorders, mainly agenesis or hypoplasia of the corpus callosum, suggest the existence of an underlying genetic component. A study of the search for the aetiology must be focused on evaluating those genes that are related with neurodevelopment and its activation in the organogenesis stage. The definitive diagnosis establishes the prognosis, management and genetic counselling of the family.
authors.affiliation: Universidad Industrial de Santander (UIS) - Facultad de Salud, Bucaramanga, Colombia.
authors.forename: Yuly V
authors.initials: YV
authors.lastname: Laguado-Herrera
authors.forename: Edgar F
authors.initials: EF
authors.lastname: Manrique-Hernández
authors.forename: Camilo A
authors.initials: CA
authors.lastname: Peñaloza-Mantilla
authors.forename: David A
authors.initials: DA
authors.lastname: Quintero-Gómez
authors.forename: Gustavo A
authors.initials: GA
authors.lastname: Contreras-García
authors.forename: Diana K
authors.initials: DK
authors.lastname: Sandoval-Martínez
mesh_terms: D058540:Aicardi Syndrome / Q000150:complications*; D003616:Dandy-Walker Syndrome / Q000150:complications*; D005260:Female; D006801:Humans; D007223:Infant