Emphysema in an 11‐month‐old boy with alpha‐1 antitrypsin deficiency

Introduction Alpha‐1 antitrypsin deficiency (A1ATD) is characterized by reduced levels of protease inhibitor alpha‐1 antitrypsin, most commonly manifesting with liver disease in childhood, and/or pulmonary disease starting in the 3rd decade of life. Childhood‐onset lung disease in A1ATD has almost never been reported. Case presentation An 11‐month‐old boy with a history of neonatal cholestasis and A1ATD phenotype PiZZ presented with prolonged fever of unknown origin. A computed tomography chest was obtained, given continued diagnostic uncertainty and the history of A1ATD, showing paramediastinal right upper lobe consolidation, as well as basilar centrilobular emphysema in the left lower lobe, likely secondary to the patient's A1ATD. The patient had no respiratory symptoms and clinically recovered with antibiotics. Conclusion Pediatric development of emphysema has been rarely described, and this is the earliest documented case to date at 11 months of age. This is also the first finding of asymptomatic emphysema in childhood A1ATD, demonstrating that disease progression may be chronic and may transition from asymptomatic to symptomatic disease.