A very rare case of chylomicronemia revealed by cerebral thrombophlebitis in a 4-month-old infant

一例极为罕见的乳糜微粒血症病例,由4个月大的婴儿发生脑血栓性静脉炎所致。

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Abstract

INTRODUCTION: Hyperchylomicronemia is a disorder of lipid's metabolism that can present fatal complications such us such venous or arterial thrombosis, pancreatitis, and cardiovascular incidents. CASE PRESENTATION: In this report case we report a 4months old patient who was admitted in the emergency room for hypotonia and during the blood sampling we were surprised by the macroscopic latescent aspect of the blood. During the investigations we found that the patient had a fatty cerebral venous thrombosis that revealed hyperchylomicronemia. Furthermore, the patient presented tuberculosis cerebral abscess and stage A pancreatitis and was successfully treated. DISCUSSION: Primary hypertriglyceridemia results from the accumulation of genes polymorphisms encoding for proteins involved in the triglycerides metabolism but before thinking about primary origin a secondary one should be pushed aside. Biological investigations should test lipoprotein lipase activity that can be absent or reduced to confirm a lipid disorder, then lipoprotein electrophoresis and genetic study can deliver the diagnosis. The management of this disease is based on low fat diet that should not be over than 25-30g per day, also statin, fibrate, omega 3 acid, heparin and insulin can be used. CONCLSUION: Adequate treatment and exploration permits to obtain the optimum care to avoid any complications.

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