Abstract

We report a four-month old female patient brought to our hospital with prolonged fever and abdominal swelling. Hepatosplenomegaly, cytopenia, hypertriglyceridemia, hyperferritinemia and hemophagocytosis in the bone marrow were found. Investigations for viral infections revealed high CMV IGM antibody and CMV PCR positivity. Because of patient's young age, history of consanguineous marriage and an exitus history of a close relative in infacy, molecular genetic analysis was performed and perforin gene mutation was described in both the patient and the parents. The patient is reported because of it's rarity and to emphasize the importance of genetic diagnosis and genetic counselling.