Two Cases of Suspected Familial Erythrophagocytic Lymphohistiocytosis

Abstract

We studied two children who died of suspected familial erythrophagic lymphohistiocytosis. The first child, a 7-year-old boy, had fever, diffuse pulmonary infiltrates, bilateral choroidal effusions, diabetes insipidus, and marked meningitis with increased cerebrospinal fluid protein. Ocular histologic studies disclosed diffuse choroidal infiltrates consisting of atypical mononuclear cells with foamy cytoplasm. Similar histologic changes were seen in the lungs, liver, brain, and kidneys. The second child, the 5-year-old male cousin of Patient 1, had fever, hepatosplenomegaly, pulmonary infiltrates, and cerebrospinal fluid pleocytosis. Histologic changes were similar to those in the first case, but viral particles of the herpes simplex virus group were noted in brain tissue as well. The findings of virus particles in this histiocytic proliferative disease suggested a defect in the inflammatory response in these patients.