Familial Chylomicronaemia: A Neonate with Milky White Blood

  • 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

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.

Keywords: Familial Chylomicronemia, lipemic plasma, triglyceride level, Lipemia retinalis

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2015
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Author Biographies

Nanda Kishwor Chaudhary, National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital, Kathmandu, Nepal

Resident

Ram Hari Chapagain, National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital, Kathmandu, Nepal

Assistant Professor, Senior Consultant

Sani Sipai, National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital, Kathmandu, Nepal

Resident

Suryakant Chaudhary, National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital, Kathmandu, Nepal

Resident

Krishan Prasad Paudel, National Academy of Medical Sciences (NAMS), Kanti Children’s Hospital, Kathmandu, Nepal

Associate Professor, Chief Consultant

Published
2019-01-11
How to Cite
Chaudhary, N., Chapagain, R., Sipai, S., Chaudhary, S., & Paudel, K. (2019). Familial Chylomicronaemia: A Neonate with Milky White Blood. Journal of Nepal Paediatric Society, 38(2), 128-131. https://doi.org/10.3126/jnps.v38i2.20473
Section
Case Reports