Incidentally Detected Right Diaphragmatic Crus Lipoma in a Young Adult with Pompe Disease: A Case Report

Abstract

Diaphragmatic lipomas are rare benign fat-containing lesions that are usually discovered incidentally; their recognition is important because they may mimic a fat-containing diaphragmatic hernia or, less commonly, an atypical lipomatous neoplasm. We report the case of a 25-year-old man with Pompe disease receiving enzyme replacement therapy who underwent chest computed tomography (CT) for a productive cough of two weeks' duration; because his underlying neuromuscular disease placed him at increased risk of respiratory complications, CT was requested to exclude an underlying pulmonary process. The lungs and airways were unremarkable, and CT incidentally demonstrated a 15 × 10 × 7 mm well-circumscribed homogeneous lesion centered within the right diaphragmatic crus, showing pure fat attenuation (-112 Hounsfield units) without thick septa, a non-fatty nodule, or enhancement, and with no diaphragmatic defect or continuity with intra-abdominal fat; these imaging findings were consistent with a right diaphragmatic crus lipoma, and because the lesion was small, asymptomatic, and displayed no suspicious imaging features, conservative management was selected. Multiplanar CT can confidently characterize a diaphragmatic lipoma and distinguish it from a fat-containing diaphragmatic hernia and atypical lipomatous tumor, and the coexistence of the lesion and Pompe disease in this patient was considered incidental, as no association between the two conditions has been established.