[Familial hemophagocytic lymphohistiocytosis (case report)]

This is the report of a female infant ten weeks of age, who was admitted to our hospital with hyperpyrexia, hemolytic anemia and disseminated intravascular coagulation. The further course of the disease was characterized by: continuing hemolysis resulting in severe normochromic, normocytic anemia, unrelenting disseminated intravascular coagulation, increasing hepato-splenomegaly with hyperbilirubinemia and ascites. No causative infectious organism could be identified. The infant died at the age of 14 weeks from respiratory insufficiency. Autopsy revealed massive hepato-splenomegaly, ascites and bilateral pneumonia. Histologic evaluation demonstrated lymphohistiocytic infiltrates of the periportal areas of the liver, the spleen and lymphnodes. Meninges were infiltered by macrophages with ingested erythrocytes. Differential diagnosis includes an infection with leptospira icterohemorrhagica (Weils disease) and erythrophagocytosis observed after various viral infections. Also histiocytosis X or malignant histiocytosis has to be taken into consideration. The most probable diagnosis in our patient is that of familiar hemophagocytic reticulosis although the familiarity in our patient was lacking. Intra vitam diagnosis can only be established by liver biopsy which could not be performed in our patient due to the severe coagulation disturbance.