Septo-optic dysplasia and hemophagocytic lymphohistiocytosis in an infant

Abstract

Macrophage activation in hemophagocytic lymphohistiocytosis (HLH) leads to severe infl ammation resulting in cytopenias and multi-organ dysfunction. Septo-optic dysplasia (SOD) is an as-yet unaffi liated disorder that manifests with optic, hepatic, endocrine and/or constitutional defects. We detail the fi rst reported occurrence of both HLH and SOD in one patient. This two-month old patient presented with acute hepatitis, direct hyperbilirubinemia, anemia and thrombocytopenia. Treatment followed standard of care practices for SOD and HLH. The patient subsequently underwent an allogeneic bone marrow transplant within eight months of diagnosis and remained in full remission at day + 90. We suggest considering a diagnosis of HLH in patients with SOD who present with severe liver failure refractory to standard therapy.