Open AccessFamilial Chylomicronaemia: A Neonate with Milky White Blood
Author(s) -
Nanda Kishwor Chaudhary,
Ram Hari Chapagain,
Sani Sipai,
Suryakant Chaudhary,
Krishan Prasad Paudel
Publication year - 2019
Publication title -
journal of nepal paediatric society
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.13
H-Index - 8
eISSN - 1990-7982
pISSN - 1990-7974
DOI - 10.3126/jnps.v38i2.20473
Subject(s) - chylomicron , medicine , lipoprotein lipase , triglyceride , endocrinology , acute pancreatitis , lipoprotein , cholesterol , very low density lipoprotein , adipose tissue
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