Ebru Nur Mıhçı1, Murat Uçak1, Ercan Mıhçı2, Berrin Aktekin1

1Department Of Neurology, Akdeniz University Faculty Of Medicine, Antalya, Turkey
2Department Of Pediatric Genetic, Akdeniz University Faculty Of Medicine, Antalya, Turkey

Keywords: Noonan syndrome, ischemic stroke, vascular malformations

Abstract

Noonan syndrome is an autosomal dominant genetic disease characterized by short stature, webbed neck, typical facial appearance and congenital heart disease. Here we report a 24 year old woman patient with the diagnosis of Noonan syndrome who admitted to our clinic with ischemic stroke caused by atrial fibrillation secondary to hypertrophic cardiomyopathy. Noonan syndrome patients with stroke due to vascular malformations have been reported, but non-obstructive hypertrophic cardiomyopathy is a rare cause for stroke in patients with Noonan syndrome. Our aim of presenting the case emphasize that Noonan syndrome should be thought as a differential diagnosis in patients with stroke at a young age and dysmorphic facial appearance.