[Familial hemophagocytic histiocytosis in 2 siblings].
Two siblings presented with fever, hepatosplenomegaly and pancytopenia at the age of six weeks. Subsequent investigations showed hypofibrinogenaemia, hypertriglyceridaemia, cellular-mediated immunodeficiency and hepatic and splenic lymphohistiocytic infiltrates showing haemophagocytosis. These findings are consistent with the diagnosis of familial haemophagocytic histiocytosis. Splenectomy in one infant was followed by brief improvement in the haematological parameters. Both infants died by the age of five months.
Carstensen
H
H
Ornvold
K
K
D006801:Humans; D007223:Infant; D008206:Lymphatic Diseases / Q000235:genetics* / Q000276:immunology / Q000628:therapy; D008297:Male; D010587:Phagocytosis; D013156:Splenectomy
Familiaer haemofagocyterende lymfohistiocytose hos søskendepar.