Aspect inhabituel du sérum chez un nouveau-né révélant une hyperchylomicronémie à l’origine d’une pancréatite aiguë

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Summary Familial chylomicronemia syndrome is a rare disorder of lipoprotein metabolism due to familial lipoprotein lipase, apolipoprotein C-II or apolipoprotein A5 deficiency. We report a rare case of familial chylomicronemia in a three-month-old boy with massive hypertriglyceridemia and clinical signs of acute pancreatitis. Genetic study of the patient revealed compound heterozygosity for a common lipoprotein lipase gene mutation (Gly188Glu) and a null-allele mutation (Gly209delG). The newborn was started on a low fat diet with medium chain triglyceride and advised a regular follow-up. We review the biochemical, clinical and genetic features of chylomicronemia syndrome.