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Emphysema in an 11-month-old boy with alpha-1 antitrypsin deficiency
Irvin Yi1, Rachel Williams2, Leela Chandrasekar3
1Yale School of Medicine New Haven Connecticut USA.
Pediatric Investigation
|July 31, 2026
Summary
This study reports the earliest case of asymptomatic emphysema in an 11-month-old child with Alpha-1 antitrypsin deficiency (A1ATD). It highlights the potential for chronic, asymptomatic lung disease progression in pediatric A1ATD.
Area of Science:
- Pulmonology
- Genetics
- Pediatrics
Background:
- Alpha-1 antitrypsin deficiency (A1ATD) typically presents with liver disease in childhood or lung disease in adulthood.
- Childhood-onset lung disease in A1ATD is exceptionally rare.
Purpose of the Study:
- To document the earliest known case of pediatric emphysema in A1ATD.
- To investigate the potential for asymptomatic lung disease progression in young children with A1ATD.
Main Methods:
- Case report of an 11-month-old male infant with A1ATD phenotype PiZZ and neonatal cholestasis.
- Diagnostic workup included computed tomography (CT) chest imaging.
- Clinical assessment for respiratory symptoms and fever of unknown origin.
Main Results:
- CT chest revealed paramediastinal consolidation and basilar centrilobular emphysema.
- The infant presented with prolonged fever but no respiratory symptoms.
- Emphysema was identified at 11 months, the earliest documented instance in pediatric A1ATD.
Conclusions:
- This case represents the earliest documented pediatric emphysema in A1ATD.
- It suggests that emphysema in A1ATD can develop asymptomatically in infancy.
- Disease progression in childhood A1ATD may be chronic and transition from asymptomatic to symptomatic stages.
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