FEVER AND RASH OF RARE ETIOLOGY - FAMILIA L HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS

Background. - Clinical onset of familial lymphohistiocytosis is non-sp ecific so that the diagnosis of this rare and severe disease is diffic ult. Case report. - An 8 week-old girl was admitted suffering from fev er and rash. She had hepatosplenomegaly. She developed pancytopenia (H b: 6.6 g/100 ml; WBC: 4500/mm(3); platelets: 25 000/mm(3)) impaired li ver function tests (prothrombin: 15%, blood bilirubin: 40 mg/l; SGOT: 160 mU/ml) and hypofibrinogenemia (0.3 g/l) within a few days. Bone ma rrow examination showed diffuse histiocytic infiltration and erythroph agocytosis, suggesting a syndrome of inappropriate macrophage activati on The age of the patient, parental consanguinity and absence of speci fic infection led to diagnosis of familial erythrophagocytic lymphohis tiocytosis. The patient died 18 days after clinical onset. Conclusion. - The diagnosis of this unusual syndrome in infants is strongly suppo rted by parental consanguinity as seen in our case or a positive famil y history. In this condition, erythrophagocytosis is often a marked fe ature.