Haemophagocytic Lymphohistiocytosis in a Newborn Infant Presenting with Cholestasis: Case Report

Abstract

Hemophagocytic lymphohistiocytosis (HLH) is a rare, fatal disease. Neonatal cholestasis exhibits symptoms similar to those seen in several newborn diseases. HLH is rapidly fatal; therefore, an effective and prompt differential diagnosis is vital. A 10-hour-old newborn with icterus was referred to our clinic. Laboratory examination revealed direct bilirubinemia and pancytopenia, and cholestasis developed. HLH findings were observed in the bone marrow aspiration. Induction chemotherapy as described in the HLH-2004 protocol was initiated. Despite notable improvement in clinical signs and laboratory findings, the infant died, probably due to sepsis, one week after start of chemotherapy HLH should be kept in mind in the differential diagnosis of all cholestatic patients with recently developed cytopenia. For definitive diagnosis of HLH, clinical signs and laboratory findings of the patient should be evaluated, hyperferritinemia and hypertriglyceridemia should be searched and bone marrow aspiration materials should be examined carefully.