Homocystinuria Presenting As A Simultaneous Dual-Site Venous Thrombosis

Abstract

We report a case of a 32-year-old male who presented with acute neurological and gastrointestinal symptoms, including seizure and abdominal pain and was found to have Budd-Chiari syndrome and cerebral cortical venous thrombosis simultaneously. The patient was subsequently diagnosed with Homocystinuria, a rare genetic disorder caused by cystathionine beta-synthase deficiency that increases the risk of thrombosis. The patient responded well to anticoagulation and homocystinuria treatment and was discharged. While previous case reports have linked homocystinuria to venous thromboembolism, this is the first known case to present with simultaneous dual venous site thrombosis. This study emphasizes the importance of maintaining a high index of suspicion for homocystinuria to prevent severe thromboembolic complications.