Publikation

Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome?

Wissenschaftlicher Artikel/Review - 01.01.2004

Bereiche
PubMed
DOI

Zitation
Khan N, Schinzel A, Shuknecht B, Baumann F, Østergaard J, Yonekawa Y. Moyamoya angiopathy with dolichoectatic internal carotid arteries, patent ductus arteriosus and pupillary dysfunction: a new genetic syndrome?. European neurology 2004; 51:72-7.
Art
Wissenschaftlicher Artikel/Review (Englisch)
Zeitschrift
European neurology 2004; 51
Veröffentlichungsdatum
01.01.2004
ISSN (Druck)
0014-3022
Seiten
72-7
Kurzbeschreibung/Zielsetzung

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.