Familial Chylomicronaemia: A Neonate with Milky White Blood
Familial Chylomicronaemia is a rare autosomal recessive disease of lipoprotein metabolism characterized by deficiency or absence of lipoprotein lipase (LPL) or its co-factor apoC-II which causes severe elevation of triglyceride and chylomicron resulting in lipaemic plasma, recurrent attacks of acute pancreatitis, eruptive xanthomas, hepato-splenomegaly and lipaemiaretinalis. We report a case of term female neonate with lipaemic plasma, lipemia retinalis, markedly elevated triglyceride level which is consistent with diagnosis of Familial Chylomicronaemia.
Keywords: Familial Chylomicronemia, lipemic plasma, triglyceride level, Lipemia retinalis
Copyright (c) 2018 Nanda Kishwor Chaudhary, Ram Hari Chapagain, Sani Sipai, Suryakant Chaudhary, Krishna Prasad Paudel
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