title: [Aicardi syndrome as cause of severe epilepsy and mental retardation].
abstract: Aicardi syndrome is a very rare disease. It is characterised by a triad of callosal agenesis, infantile spasms and chorioretinal lacunae. Other congenital defects of the eyes, ribs and vertebrae and other malformations also occur frequently. Mental retardation and usually intractable seizures are constant features. Treatment is only symptomatic and the outcome is very severe in most cases. This case report describes a newly diagnosed patient with Aicardi syndrome. To our knowledge it is the second case diagnosed in Denmark.
authors.affiliation: Pædiatrisk Afdeling, Sygehus Vendsyssel, 9800 Hjørring, Denmark. eldl@rn.dk
authors.forename: Elke
authors.initials: E
authors.lastname: Longin
authors.forename: Graziella
authors.initials: G
authors.lastname: Andersen
mesh_terms: D058540:Aicardi Syndrome / Q000150:complications* / Q000175:diagnosis; D004827:Epilepsy / Q000175:diagnosis / Q000209:etiology*; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000175:diagnosis / Q000209:etiology*