Abstract

This case study focuses on a woman in her late fifties with past medical history of recurrent childhood respiratory and skin infections presenting to the pulmonology clinic with dyspnea and wheezing only partially relieved with inhalers and nebulizer treatments. Subsequent CT scan showed numerous calcified lung nodules, granulomas in the lung and liver, and calcifications in the abdominal aorta. As such, the differential diagnoses for this patient’s case included fungal infections, autoimmune diseases, and granulomatous conditions. Through genetic testing, the diagnosis was narrowed down to Chronic Granulomatous Disease (CGD).

Due to significant overlap between pathologies involving calcified pulmonary nodules, this case is used as a jumping off point to discuss development of an appropriate list of differential diagnoses and isolating a final diagnosis. It will also delve into the unique details of this patient’s case that make her presentation atypical for CGD. By discussing these points, the following report will stress the importance of not only considering the most common culprits like fungal infections, but also evaluating for more unexpected and obscure - yet equally valid - diagnoses like CGD.