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

Publication

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

Journal Paper/Review - Jan 1, 2004

Khan Nadia, Schinzel Albert, Shuknecht Bernhard, Baumann Fabian, Østergaard John R, Yonekawa Yasuhiro

Citation

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.

Type

Journal Paper/Review (English)

Journal

European neurology 2004; 51

Publication Date

Jan 1, 2004

Issn Print

0014-3022

Pages

72-7

Brief description/objective

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.