INTRODUCTION: @entity16282 (OMIM 304050) was first described in 1965. Its classic triad consists of @entity739 , partial or total agenesis of the @entity6789 and @entity2788 , such as chorioretinal lacunae. It has been posited that it is due to a mechanism involving X-linked dominant inheritance. CASE REPORT: We report the case of a full-term female, with no pathological familial history or parental consanguinity, with a prenatal diagnosis of @entity1647 , who presented @entity410 , @entity4643 of the optic nerve, thoracic @entity616 with presence of @entity1635 , transfontanellar ultrasound imaging showing agenesis of the @entity6789 and karyotype 46,XX. She was diagnosed with @entity16282 and died at the age of one and a half months. The autopsy revealed supratentorial hydrocephalus with the presence of @entity2846 , a cyst in the posterior fossa (fourth ventricle), @entity509 of the cerebellar vermis, agenesis of the left hemisphere of the @entity6789 and cerebellum, characteristic facial features of the @entity2419 , @entity1408 , @entity1635 , @entity45 and @entity382 . CONCLUSIONS: Few cases of an association between the pathology and the presence of @entity1647 have been described. We report a new case of the association, bearing in mind that the related disorders, mainly agenesis or @entity509 of the @entity6789 , 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.

[ XXXX with @entity1647 ].

@entity382 :: ('MESH:D006529', 'Disease') :: ['hepatomegaly'] @entity410 :: ('MESH:D012640', 'Disease') :: ['convulsions'] @entity16282 :: ('MESH:D058540', 'Disease') :: ['Aicardi syndrome'] @entity1635 :: ('MESH:D012600', 'Disease') :: ['scoliosis'] @entity509 :: ('MESH:C538429', 'Disease') :: ['hypoplasia'] @entity739 :: ('MESH:D013036', 'Disease') :: ['infantile spasms'] @entity2788 :: ('MESH:D015785', 'Disease') :: ['ocular disorders'] @entity1647 :: ('MESH:D003616', 'Disease') :: ['Dandy-Walker malformation', 'Dandy-Walker type malformation'] @entity4643 :: ('MESH:D003103', 'Disease') :: ['coloboma'] @entity2846 :: ('MESH:D020288', 'Disease') :: ['choroid plexus papilloma'] @entity45 :: ('MESH:D010181', 'Disease') :: ['paraovarian cyst'] @entity2419 :: ('MESH:D002972', 'Disease') :: ['syndrome, ogival palate'] @entity6789 :: ('MESH:D061085', 'Disease') :: ['corpus callosum'] @entity1408 :: ('MESH:D005660', 'Disease') :: ['pectus excavatum'] @entity616 :: ('MESH:D006327', 'Disease') :: ['vertebral block']
@entity16282 :: (MESH:D058540,Disease) :: ['Aicardi syndrome']
