Familial hemophagocytic lymphohistiocytosis in 2 siblings with dysmorphogenesis: a new syndrome or an association between 2 syndromes?!

Hemophagocytic lymphohistiocytosis represents a rare but biologically and clinically important group of disorders. The cardinal manifestations are prolonged fever, cytopenias, hepatosplenomegaly, and hemophagocytosis by activated, morphologically benign macrophages. Biochemical markers include elevated ferritin and triglycerides and low fibrinogen. Here we describe a case of familial hemophagocytic lymphohistiocytosis with distinct facial abnormalities including full cheeks, shallow orbits, and high arched palate, opisthotonus with clenched hands and feet; in addition to a family history of a female sibling with a similar clinical picture who died at 3 months of age.