Antiphospholipid antibody syndrome in a six-year-old female patient

PURPOSE: To report the first instance of primary antiphospholipid antibody (APA) syndrome in an otherwise healthy 6-year-old female patient with retinal venous thromboses. DESIGN: Observational case report. METHODS: A 6-year-old girl with poor vision in the left eye and preretinal hemorrhage underwent testing for infectious, autoimmune and embolic disease, diabetes, and hypertension. Testing for factor V Leiden and prothrombin G20210A mutations, homocysteine, anticardiolipin antibodies (ACAs), lupus anticoagulant, and functional assays for protein S, protein C, and antithrombin III were performed to detect a hypercoagulable state. No IRB approval was necessary. RESULTS: Only a positive lupus anticoagulant and moderately elevated ACA IgG were found. The ACA IgG was moderately elevated on repeat testing 18 months later. Laser to nonperfused retina caused some regression of retinal neovascularization. Aspirin was recommended to reduce the risk of future thromboses. CONCLUSION: Although uncommon, retinovascular thrombosis in children can occur in APA syndrome. Testing for ACA and lupus anticoagulant should be considered.