A 2-month-old infant Hispanic female with failure to thrive and choking
episodes was admitted with progressive worsening of respiratory effort,
paroxysmal coughing, and hypoxemia. She required prolonged mechanical
ventilation and post-pyloric feeding for concern of aspiration with no
marked improvement of chest radiogram or CT findings. Lung biopsy
performed and remarkable for lymphocytic infiltration but without a
definite diagnosis. Genetic testing identified a unique heterozygous
mutation in the COPA gene. She was started on rituximab and azathioprine
initially and has weaned off oxygen and the ventilator. We report a
unique case of interstitial lung disease secondary to COPA gene mutation
without frank pulmonary hemorrhage, renal, or joint involvement upon
initial presentation.