Anaesthesia Management of a Young Patient with Homocystinuria

Anaesthetic management of a young patient with homocystinuria.

Homocystinuria is a rare autosomal recessive genetic disease. It is caused by a deficiency in cystathionine-b-synthase leading to a defect in methionine metabolism. High levels of plasma homocysteine are associated with vascular injury via mechanisms of oxidative damage, vascular smooth muscle proliferation, promotion of platelet activation and aggregation,and disruption of normal procoagulant-...

Gallstones in a patient with homocystinuria.

Anaesthesia Management of a Patient with Undiagnosed Hypertrophic Cardiomyopathy.

Address for Correspondence: Dr. Mehtap Özdemir, Ümraniye Eğitim ve Araştırma Hastanesi, Anesteziyoloji ve Reanimasyon Kliniği, İstanbul, Türkiye Phone: +90 216 632 18 18-1352/1351 E-mail: [email protected] ©Copyright 2015 by Turkish Anaesthesiology and Intensive Care Society Available online at www.jtaics.org Received : 20.11.2014 Accepted : 22.12.2014 Mehtap Özdemir, Pınar Yonca Yanlı, Nurten...

Massive Pulmonary Embolism in a Patient with Undiagnosed Homocystinuria

Background: Homocystinuria is an autosomal recessively inherited defect of methionine catabolism. This rare condition causes abnormal accumulation of homocysteine in the blood and urine that is not typically found in significant quantities. While elevated homocysteine levels can cause damage to multiple organ systems, they most often affect the cardiovascular, musculoskeletal, ocular, and centr...

Resolution of cor pulmonale after medical management in a patient with cblC-type methylmalonic aciduria and homocystinuria: a case report

We describe a 3-year-old Hispanic male with cblC-type methylmalonic aciduria and homocystinuria who presented to the emergency department with progressive tachypnea, vomiting, and edema secondary to pulmonary embolism and cor pulmonale. With aggressive medical management, there was complete resolution of right heart failure and pulmonary hypertension after 3 months. Pulmonary embolism is rare i...