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An Infant with Severe Anemia and Hypoalbuminemia

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Abstract

We discuss the case of a two-month-old girl admitted with complaints of progressive pallor, generalized body swelling and pale colored stool since the neonatal period. On examination, severe pallor, chubby cheeks and moderate hepatomegaly were noted. Investigations revealed isolated anemia, transaminitis, conjugated hyperbilirubinemia, prolonged prothrombin time and hyperlipidemia. She died due to severe sepsis, shock, and pulmonary hemorrhage. An autopsy revealed characteristic histopathology findings of cystic fibrosis in the liver, lungs, and pancreas. Genetic analysis performed on autopsy tissue was positive for F508del compound heterozygous (WT/ F508del) mutation, confirming the diagnosis of cystic fibrosis.

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Authors and Affiliations

  1. Department of Pediatrics, Post Graduate Institute of Medical Education and Research, Chandigarh, 160 012, India

    Jogender Kumar & Praveen Kumar

  2. Department of Histopathology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

    Debajyoti Chatterjee

  3. Department of Gastroenterology, Post Graduate Institute of Medical Education and Research, Chandigarh, India

    Sadhna B. Lal

Authors
  1. Jogender Kumar
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  2. Debajyoti Chatterjee
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  3. Sadhna B. Lal
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  4. Praveen Kumar
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Contributions

Contributors: JK: clinical protocol discussant, reviewed the literature and drafted the manuscript; DC: pathology protocol discussant, reviewed the literature and edited the manuscript; SL: treating unit consultant, provided critical inputs in the draft of the manuscript, and edited the manuscript; PK: substantial inputs in analysis of the case, critically reviewed and edited the manuscript. All the authors approved the final version of the manuscript.

Corresponding author

Correspondence to Jogender Kumar.

Ethics declarations

Competing interests: None stated.

Ethics statement: The authors certify that the family was informed about the final diagnosis, and appropriate counselling provided.

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Kumar, J., Chatterjee, D., Lal, S.B. et al. An Infant with Severe Anemia and Hypoalbuminemia. Indian Pediatr 57, 349–355 (2020). https://doi.org/10.1007/s13312-020-1788-8

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  • DOI: https://doi.org/10.1007/s13312-020-1788-8

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