CTICasesNeurofibromatosis with Lung Cysts and Paraseptal Emphysema
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Imaging findings
A patient with neurofibromatosis presented with characteristic skin irregularities and an intercostal lesion. Chest CT revealed multiple well-defined lung cysts and paraseptal emphysema, identified in a lifetime non-smoker.
Key takeaways
Neurofibromatosis is a genetic disorder that can involve the lungs, manifesting as cysts and paraseptal emphysema. This lung involvement, reported in the literature, is analogous to findings in other phakomatoses like tuberous sclerosis. The presence of emphysema in a non-smoker highlights the direct pulmonary manifestations of the underlying genetic condition rather than exogenous factors.
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