Bleeding from the Small Intestine and Aortic Regurgitation in Noonan Syndrome

Abstract

A 62-year-old man was admitted to our hospital because of melena. On admission physical examination revealed that he had typical features of Noonan syndrome (NS). Investigation via upper endoscopy with the single balloon demonstrated oozing from the small intestine. Bleeding sometimes occurs in patients with NS. We speculated that coagulation defects or vascular malformations might have been present at the first visit in this case. However, coagulation function was normal. By upper endoscopy with the single balloon we clearly revealed the angioectasia in the small intestine. This case documents the first association among NS, aortic regurgitation and angioectasia in the small intestine.

Endoscopic ultrasound-guided portal-systemic pressure gradient measurement

“…Prior EUS-guided portal pressure measurements in porcine models correlated with percutaneous measurements [2 -4]. This is the first clinical report demonstrating the feasibility and apparent safety of portal vein and hepatic vein pressure measurements by EUS, thereby allowing diagnosis of arteriovenous malformations as have been reported in Noonan syndrome [5].…”