Author/Authors :
Idrissi Slitine, Nadia El Department - Mohammed VI University Hospital and Research and Team for Childhood - Health and Development - Marrakech School of Medicine - Cadi Ayyad University, Marrakech, Morocco , Bennaoui, Fatiha Department - Mohammed VI University Hospital and Research and Team for Childhood - Health and Development - Marrakech School of Medicine - Cadi Ayyad University, Marrakech, Morocco , Louachama, Ouidad Department - Mohammed VI University Hospital and Research and Team for Childhood - Health and Development - Marrakech School of Medicine - Cadi Ayyad University, Marrakech, Morocco , Habibi, Leila Department - Mohammed VI University Hospital and Research and Team for Childhood - Health and Development - Marrakech School of Medicine - Cadi Ayyad University, Marrakech, Morocco , Fdil, Naima Biochemistry laboratory - Arrazi hospital - Mohammed VI University Hospital, Marrakesh, Morocco , Tali, Abdelali Biochemistry Department - School of Medicine - CADI AYYAD University, Morocco , Chabaa, Laila Biochemistry laboratory - Arrazi hospital - Mohammed VI University Hospital - Marrakesh, Morocco and Biochemistry Department - School of medicine ,CADI AYYAD University, Morocco , Mrabih Rabou Maoulainine, Fadl Department - Mohammed VI University Hospital and Research and Team for Childhood - Health and Development - Marrakech School of Medicine - Cadi Ayyad University, Marrakech, Morocco
Abstract :
Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It’s a genetic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineous parents. She was hospitalized for hypertriglyceridemia, complicated by acute pancreatitis; serum was noted to be milky. The genetic study found a mutation of the Lipoprotein Lipase (LPL) gene: homozygous pathogenic variant c.1019-3C > A.
She enjoyed good health, developed well and the triglyceride was maintained at a concentration of
Keywords :
Pancreatitis , Mutation , LPL gene , hyperchylomicronemia , Children
