A Case Report of Familial Chylomicronemia Syndrome

Diagnosis of neonatal chylomicronemia, as a very rare condition, is very difficult and usually is diagnosed when acute pancreatitis sets in. Early diagnosis can prevent the complications such as acute pancreatitis and pancreatic necrosis which are associated with the condition.

A 5.5 month- old female breastfed baby presented to us suffering from splenomegaly because of respiratory infection. Anemia and leukocytosis were seen in laboratory data. The result of bone marrow aspiration (BMA) performed to diagnosis was normal. Following the study, the patient had a high triglyceride, which improved with the treatment of symptoms and blood indices.

Our case reports a rare disorder that was initially admitted with suspicion of malignancy, organomegaly, anemia and leukocytosis. In the course of hospitalization, the diagnosis of malignancy was rejected after BMA, and chylomicronemia was diagnosed and the patient's leukocytosis and high uric acid were eliminated by treatment of the disease and the patient's symptoms were improved.