title: Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome?
abstract: We report on 2 children with moyamoya angiopathy and bilateral dolichoectatic internal carotid arteries in combination with iris hypoplasia with bilateral fixed dilated pupils and a history of patent ductus arteriosus. Both were symptomatic with moyamoya angiopathy and underwent bilateral extracranial-intracranial (EC-IC) bypass operations for cerebral revascularization. This is the first report on moyamoya angiopathy and bilateral dolichoectatic internal carotid arteries with simultaneous occurrence of ocular and cardiovascular malformations. There have been descriptions of cerebral vascular abnormalities in combination with either congenital heart disease or ocular abnormalities but not with both presenting together. The combination of these separate congenital developmental defects may not be purely coincidental: we propose that the 2 probands are affected with a not yet recognized clinical syndrome of probably genetic etiology.
authors.affiliation: Department of Neurosurgery, University Hospital Zürich, Frauenklinikstrasse 10, CH-8091 Zürich, Switzerland. Nadia.khan@usz.ch
authors.forename: Nadia
authors.initials: N
authors.lastname: Khan
authors.forename: Albert
authors.initials: A
authors.lastname: Schinzel
authors.forename: Bernhard
authors.initials: B
authors.lastname: Shuknecht
authors.forename: Fabian
authors.initials: F
authors.lastname: Baumann
authors.forename: John R
authors.initials: JR
authors.lastname: Østergaard
authors.forename: Yasuhiro
authors.initials: Y
authors.lastname: Yonekawa
mesh_terms: D002343:Carotid Artery, Internal / Q000000981:diagnostic imaging / Q000503:physiopathology* / Q000601:surgery; D002648:Child; D002675:Child, Preschool; D004374:Ductus Arteriosus, Patent / Q000150:complications* / Q000473:pathology / Q000601:surgery; D016894:Endarterectomy, Carotid / Q000379:methods; D005260:Female; D006801:Humans; D018810:Magnetic Resonance Angiography / Q000379:methods; D008297:Male; D009072:Moyamoya Disease / Q000150:complications* / Q000473:pathology / Q000601:surgery; D009204:Myocardial Revascularization / Q000379:methods; D011681:Pupil Disorders / Q000150:complications* / Q000473:pathology / Q000601:surgery; D011859:Radiography; D016896:Treatment Outcome; D014715:Vertebrobasilar Insufficiency / Q000150:complications* / Q000473:pathology / Q000601:surgery