[Familial hyperchylomicronemia associated with diabetes about one case]

ABSTRACT

In this study, we report one case of a 10 years old girl presenting hyperchylomicronemia colliged in department of pediatrics CHU Sahloul Sousse. The principal clinical symptoms were abdominal pains and splenomegaly. Eruptive xanthomata was not found. Biologically, we noted a high level of triglyceride [40.2 mmol/l] and cholesterol [10.6 mmol/l]. Lipoprotein electrophoresis showed an hyperchylomicronemia. The post heparin lipolytic activity is decreased. Molecular basis showed a new mutation in intron 6 substitution of cytosin by adenin. Five years later she is presenting diabetis. The outcome was good