Case Report: Early recognition of neonatal alpha-1 antitrypsin deficiency: a case of subtle presentation and prompt diagnosis - Takeaways - MDSpire

Case Report: Early recognition of neonatal alpha-1 antitrypsin deficiency: a case of subtle presentation and prompt diagnosis

  • By

  • Vinson James

  • Sydney Darling

  • Catherine Chin

  • Pomalpreet Bajwa

  • Adarsh Pillay

  • Jaime Chu

  • Yoseph Gurevich

  • Vindhya Kamath

  • June 24, 2026

  • 0 min

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  • 1

    A 4-day-old male infant presented with hypothermia, hypoglycemia, and persistent conjugated hyperbilirubinemia after exclusion of infectious causes.

  • 2

    The infant was diagnosed with alpha-1 antitrypsin deficiency (PiZZ genotype) by the 8th day of life, one of the earliest reported diagnoses.

  • 3

    Laboratory findings included markedly elevated gamma glutamyl transferase and a serum alpha-1 antitrypsin level <20 mg/dL, confirming severe deficiency.

  • 4

    The case emphasizes the need for metabolic evaluations in neonates with persistent conjugated hyperbilirubinemia not explained by infections.

  • 5

    Alpha-1 antitrypsin deficiency is not included in standard newborn screening panels, highlighting a gap in early detection.

Original Source(s)

Case Report: Early recognition of neonatal alpha-1 antitrypsin deficiency: a case of subtle presentation and prompt diagnosis

  • by Vinson James, Sydney Darling, Catherine Chin, Pomalpreet Bajwa, Adarsh Pillay, Jaime Chu, Yoseph Gurevich, Vindhya Kamath

  • June 24, 2026

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