A Rare Disease of Familial Chylomicronemia Syndrome in a 20 Days Infant

Authors

  • Nurun Nahar Fatema Begum Independence Awardee, Professor & Head, Department of Paediatrics, AFMC, Dhaka, Bangladesh
  • Mukta Sarker Classified Specialist in Paediatrics, CMH, Bogura, Bangladesh

DOI:

https://doi.org/10.3329/jafmc.v15i1.48658

Keywords:

Familial chylomicronemia, Familial lipoprotein lipase deficiency, Apo-lipoprotein C-II deficiency, Milky blood

Abstract

Familial chylomicronemia syndrome is a group of very rare genetic disorders. It is inherited as autosomal recessive disorder. Its estimated incidence is 1 in 1000000 populations, characterized by deficient activity of an enzyme lipoprotein lipase (LPL) or apo-protein C-II, resulting into severe fasting hypertriglyceridemia and massive accumulations of chylomicrons in plasma. LPL deficiency typically presents in childhood with failure to thrive, colicky abdominal pain, eruptive xanthomas, lipemiaretinalis, pancreatitis and hepatomegaly. We are reporting a rare case of familial chylomicronemia in a 20 days old child who was presented with pneumonia, his plasma incidentally found like milk during routine collection of his blood sample. As the child was only 20 days old with very high triglyceride level, so breast feeding continued and cocktail therapy with low dose Tablet Fenofibrate, Tablet Niacin, Tablet Atovastatin started after referral to paediatric cardiologist at 3 months of age.

Journal of Armed Forces Medical College Bangladesh Vol.15 (1) 2019: 107-109

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Published

2020-08-20

How to Cite

Begum, N. N. F., & Sarker, M. (2020). A Rare Disease of Familial Chylomicronemia Syndrome in a 20 Days Infant. Journal of Armed Forces Medical College, Bangladesh, 15(1), 107–109. https://doi.org/10.3329/jafmc.v15i1.48658

Issue

Section

Case Reports