Septo-optic dysplasia and hemophagocytic lymphohistiocytosis in an infant.

Macrophage activation in hemophagocytic lymphohistiocytosis (HLH) leads to severe inflammation resulting in cytopenias and multi-organ dysfunction. Septo-optic dysplasia (SOD) is an as-yet unaffiliated disorder that manifests with optic, hepatic, endocrine and/or constitutional defects. We detail the first reported occurrence of both HLH and SOD in one patient.