BONE-MARROW HEMOPHAGOCYTOSIS AND IMMUNOLOGICAL ABNORMALITIES IN A PATIENT WITH LYSINURIC PROTEIN INTOLERANCE

Lysinuric protein intolerance (LPI) is an inborn error of amino acid t ransport characterized by a wide spectrum of clinical and biochemical abnormalities. Bone marrow hemophagocytosis in this disorder is an int riguing finding, present mostly in Italian patients. We report a 19-mo nth-old Turkish infant with LPI, bone marrow hemophagocytosis, interst itial lung disease and immunological abnormalities unprecedented in th e current literature. Possible etiologic factors responsible for hemop hagocytosis and the differential diagnosis of hemophagic syndromes are discussed.