Publication: Familial Chylomicronaemia: A Neonate with Milky White Blood
Date
2018
Article Type
Case Report
Journal Title
Journal ISSN
ISSN 1990-7974 eISSN 1990-7982
Volume Title
Pages
Pages: 128 - 131
Publisher
Nepal Paediatric Society (JNPS)
Abstract
Abstract:
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.
Description
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
Keywords
Familial Chylomicronaemia, lipaemic plasma, triglyceride level, lipaemiaretinalis
Identifier
https://doi.org/10.3126/jnps.v38i2.20473