Familial erythrophagocytic lymphohistiocytosis in infancy.
A 2 1/2-month-old infant suffering from pyrexia, purpura, hepatosplenomegaly, pancytopenia and hyperlipidemia is reported. Liver and spleen biopsies revealed mononuclear histiocytic infiltration with marked erythrophagocytosis. The girl died at 7 1/2 months of age. Her brother died in infancy with an analogous clinical picture. The parents were first cousins. The clinical presentation and laboratory findings are consistent with the diagnosis of familial erythrophagocytic lymphohistiocytosis.
D003241:Consanguinity; D004912:Erythrocytes; D005260:Female; D006801:Humans; D007223:Infant; D008206:Lymphatic Diseases / Q000235:genetics*; D008297:Male; D010587:Phagocytosis