Familial Chylomicronaemia: A Neonate with Milky White Blood

Nanda Kishwor Chaudhary; Ram Hari Chapagain; Sani Sipai; Suryakant Chaudhary; Krishan Prasad Paudel

Nanda 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, Nepal

Abstract

DOI: https://doi.org/10.3126/jnps.v38i2.20473

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