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An Infant with Milky Serum and a Rare Mutation

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Abstract

A 40-day-infant having milky serum, eruptive xanthomas, hepatosplenomegaly, lipemia retinalis, high cholesterol and triglyceride, was found to have lipoprotein lipase (LPL) deficiency on genetic workup. Triglyceride decreased with dietary fat restriction, medium chain triglyceride and fibrates. LPL deficiency in early infancy can be treated with pharmacological and dietary interventions.

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Funding

Funding: None

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Authors and Affiliations

  1. Department of Pediatrics, Kalinga Institute of Medical Science, Bhubaneswar, Odisha, India

    Jyoti Ranjan Behera, Sibabrata Pattanaik & Mukesh Kumar Jain

Authors
  1. Jyoti Ranjan Behera
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  2. Sibabrata Pattanaik
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  3. Mukesh Kumar Jain
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Contributions

Contributors: JRB,SP: diagnosed and worked up the case; JRB,MKJ: prepared the manuscript.

Corresponding author

Correspondence to Jyoti Ranjan Behera.

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Competing Interest: None stated.

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Behera, J.R., Pattanaik, S. & Jain, M.K. An Infant with Milky Serum and a Rare Mutation. Indian Pediatr 57, 73–74 (2020). https://doi.org/10.1007/s13312-020-1711-3

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  • DOI: https://doi.org/10.1007/s13312-020-1711-3

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