To report a case of early diagnosis of neonatal alpha-1 antitrypsin deficiency (A1ATD) in an infant presenting with hypothermia and conjugated hyperbilirubinemia, highlighting the importance of timely metabolic evaluations.
Approach:
Case Presentation: A 4-day-old male infant, born small for gestational age (38 weeks, 2,150 g) to a group B streptococcus-positive mother, presented with hypothermia, hypoglycemia, and weak cry. Initial evaluation was directed toward neonatal sepsis; however, persistent conjugated hyperbilirubinemia and elevated gamma glutamyl transferase led to metabolic evaluation.
Key Findings:
The infant presented with hypothermia, hypoglycemia, and conjugated hyperbilirubinemia.
Alpha-1 antitrypsin deficiency (PiZZ genotype) was diagnosed by the 8th day of life, one of the earliest reported cases.
Routine newborn screening does not include alpha-1 antitrypsin deficiency.
Interpretation:
This case highlights the importance of considering metabolic disorders in neonates with persistent conjugated hyperbilirubinemia after excluding infectious causes.
Limitations:
A1ATD is not included in standard newborn screening panels, potentially delaying diagnosis.
The case is based on a single patient experience, limiting generalizability.
Conclusion:
Timely identification of A1ATD can occur in neonates with subtle presentations.
