title: Langer-Giedion syndrome associated with congenital dural arterio-venous fistula.
abstract: Langer-Giedion syndrome (LGS) is a rare disease caused by deletion of chromosome 8q23.3-q24.11. Clinical manifestations include among others multiple exostoses, short stature, intellectual disability, and typical facial dysmorphism. Dural arterio-venous shunts (DAVS) in the pediatric age are rare lesions, which have been classified into three types: dural sinus malformations (DSM), infantile type DAVS (IDAVS), and adult type DAVS (ADAVS). We report a case of a patient with a known LGS who was diagnosed with complex intracranial dural AV fistula at the age of 20. An association between LGS and intracranial dural AV fistulas has to our knowledge never been reported before.
authors.affiliation: Department of Neuroradiology, University Hospital of Zurich, Rämistrasse 100, 8091, Zürich, Switzerland, severina.leu@unibas.ch.
authors.forename: Severina
authors.initials: S
authors.lastname: Leu
authors.forename: Anton
authors.initials: A
authors.lastname: Valavanis
authors.forename: Gerasimos
authors.initials: G
authors.lastname: Baltsavias
mesh_terms: D020785:Central Nervous System Vascular Malformations / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D002533:Cerebral Angiography; D002872:Chromosome Deletion; D006801:Humans; D015826:Langer-Giedion Syndrome / Q000150:complications* / Q000000981:diagnostic imaging / Q000235:genetics; D008297:Male; D055815:Young Adult