Anesthetic implications of homocystinuria: A case report

Abstract

Introduction: Homocystinuria is an inherited metabolic disorder associated with cystathionine beta-synthase deficiency leading to accumulation of both methionine and homocysteine in various tive tissues and blood manifesting clinically as multisystem disorder. It is associated with a high incidence of thromboembolic complications and high mortality during the perioperative period. Homocystinuria imposed number of anesthetic challenges during the perioperative period. Case Report: A 10-year-old male presented with dimness of vision and was found to have ectopia lentis. Based on his clinical findings, he was suspected to have homocystinuria. This was confirmed by his high serum homocysteine levels. The child was posted for lensectomy with vitrectomy. The homocysteine and methionine level were brought down to the safer limit by monthlong medical and nutritional therapy before taking up for the surgery. The surgery was done under general anesthesia and peribulbar block. The perioperative measure included avoidance of prolonged fasting, avoidance of nitrous oxide, mechanical and chemical thromboprophylaxis, and early mobilization. The patient had an uneventful post-operative period. Conclusion: Understanding the perioperative hazards and complications of homocystinuria can be avoided with proper preparation of the patient, judicious use of anesthetic techniques. This case report described some of the anesthetic challenges during management of such a patient. Keywords: Homocystinuria, general anesthesia, thromboembolism, nitrous oxide.