CTICasesProteus Syndrome with Severe Emphysema
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Imaging findings
The patient's head CT from 2001 showed bony outgrowths on the occiput with associated soft tissue abnormality. Chest imaging revealed severe hyperinflation with the right lung herniating across the anterior mediastinum to the left hemithorax, which progressed over time. Post-endobronchial valve placement, there was a tiny pneumothorax, and some abnormal vessels were noted, possibly pulmonary varicosities.
Key takeaways
Proteus syndrome is a mosaic overgrowth syndrome affecting multiple organs, including skin, bone, and lungs, typically presenting in childhood or adolescence. Pulmonary manifestations can include emphysema and varicosities. Endobronchial valves can be a life-altering procedure for severe emphysema in these patients. The case prompted discussion on the appropriate terminology for lung shifting across the midline (herniation vs. shift) and the naming convention for a pneumothorax of a shifted lung.
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