• Med Princ Pract · Jan 2013

    Case Reports

    Homocystinuria with lower gastrointestinal bleeding: first case report.

    • Mohammad Al Humaidan, Ibrahim Al Sharkawy, Abdullah Al Sanae, and Fawaz Al Refaee.
    • Department of Pediatrics, AlSabah Hospital, Kuwait City, Kuwait.
    • Med Princ Pract. 2013 Jan 1; 22 (5): 500502500-2.

    ObjectiveTo 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 InterventionA 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.ConclusionThis 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.Copyright © 2012 S. Karger AG, Basel.

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