MR imaging in a patient with homocystinuria.

Gallstones in a patient with homocystinuria.

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...

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-...

Dystrophic Calcinosis in a Patient with Scleroderma: Imaging Findings and Literature Review

 Subcutaneous calcinosis consists of abnormal calcium deposition in soft tissues and is one of the complications of scleroderma, especially in limited systemic sclerosis. It is one of the criteria of CREST syndrome (calcinosis cutis, Raynaud phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia). A 44-year-old woman with systemic scleroderma for 20 years was presented with pain ...

Patient Safety on intraoperative MR Imaging in a two room

As early as 1997 the first clinical publications showed the clinical benefits of using intra-operative Magnetic Resonance Imaging: “Intra-operative MRI can be expected to increase the degree and accuracy of resection” . Other studies have looked at post-operative MRI imaging and indicate that intra-operative MRI would have had an influence on the clinical outcome . All recent studies concur tha...