Homocystinuria with Lower Gastrointestinal Bleeding: First Case Report

OBJECTIVE: To report a rare complication of homocystinuria in a child and highlight the association of homocystinuria with lower gastrointestinal bleeding and intestinal thrombosis. CLINICAL PRESENTATION AND INTERVENTION: A 7-year-old boy with homocystinuria and poor compliance with treatment presented with abdominal pain and bloody stools. Doppler ultrasound showed superior mesenteric and middle colic vein thrombosis. Laparotomy demonstrated ischemic small bowel necessitating resection. The patient improved clinically following resection and the initiation of the anticoagulation with homocystinuria treatment and was discharged home. CONCLUSION: This case showed the need to sustain a high index of suspicion of thromboembolism in a patient with homocystinuria and lower gastrointestinal bleeding and the importance of compliance with treatment to avoid vascular complications.