Vol. 6, Issue 1, Part A (2024)

Antiphospholipid Antibody Syndrome (APS) is a rare autoimmune disease in the pediatric population, characterized by the combination of thrombotic events and the persistent presence of circulating antiphospholipid antibodies (aPL), such as anticardiolipin (aCL), anti-beta2 glycoprotein (B2GP), and lupus anticoagulant (LAC). In this study, we present the case of an 11-year-old male adolescent with no significant medical history, who was brought to the emergency department due to sudden vision loss in his right eye (RE). On examination, a relative afferent pupillary defect was observed in his RE. Retinal examination demonstrated venous occlusion and occlusion of the superior and inferior temporal branches of the retinal artery. Further investigation depicted a positive aCL and B2GP, and LAC and APS were suspected. The patient was placed on low-molecular-weight heparins for anticoagulation therapy. In this particular case, hyperbaric oxygen therapy was also administered, resulting in mild improvement. Follow-up examinations at 12 weeks confirmed persistent high titers of circulating aPL, supporting the diagnosis of primary APS. At discharge, decreased visual acuity in the RE persisted; however, there were no other signs of connective tissue disease. The patient remained on multidisciplinary care and oral anticoagulation therapy with warfarin, and no more thrombotic events were registered. This case highlights a rare initial presentation of APS in an adolescent and the importance of early recognition and management of this condition. It emphasizes the need for a comprehensive multidisciplinary approach to treat APS in pediatrics, considering the potential long-term complications associated with this condition. Further research is warranted to enhance our understanding of APS in the pediatric population and optimize treatment strategies.