Neurological and neuropathological findings in familial erythrophagocytic lymphohistiocytosis

Abstract

An infant case of erythrophagocytic lymphohistiocytosis is reported. The disease began at the age of two months with hepatosplenomegaly and intractable fever, and later developed pancytopenia. Splenectomy had to be performed at the age of six months and led to the final diagnosis. After the age of nine months the patient developed progressive neurological signs (loss of visual function convulsions, opisthotonus and CSF pleocytosis). The changes in the CT-scan of the brain were explained by the neuropathologic findings after the death of the patient at the age of 13 months. The markedly atrophic brain showed diffuse and mainly perivascular infiltration of brain and meninges with lympho- and histiocytes and extensive microscopic calcification.