Chaudhary, Nanda KishworChapagain, Ram HariSipai, SaniChaudhary, SuryakantPaudel, Krishan Prasad2026-01-132026-01-132018https://hdl.handle.net/20.500.14572/4238Nanda Kishwor Chaudhary National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital, Kathmandu, Nepal Ram Hari Chapagain National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital, Kathmandu, Nepal Sani Sipai National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital, Kathmandu, Nepal Suryakant Chaudhary National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital, Kathmandu, Nepal Krishan Prasad Paudel National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital, Kathmandu, NepalAbstract: 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.en-USFamilial Chylomicronaemialipaemic plasmatriglyceride levellipaemiaretinalisArticle