PMC1164415_01
PMC1164415_02
Type I Gaucher disease with exophthalmos and pulmonary arteriovenous malformation. (A) MRI of the head shows increases in retrobulbar space and hypertrophy of extra-ocular muscles. (B) Chest X ray reveals prominent pulmonary conus and increased infiltration over right lower lung field. (C) High-resolution computed tomography of chest reveals engorged right inferior pulmonary artery and its draining veins. (D) Pulmonary angiogram demonstrates right pulmonary arteriovenous malformation.
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PMC1164415_02_1471-2350-6-25-1.jpg
F1
Magnetic resonance imaging (MRI) of the eyes revealed increases in retrobulbar space with fat-like density and mild hypertrophy of extra-ocular muscles (Fig. 1A). A grade III/VI bruit was audible over the right lower chest, and a chest x-ray revealed prominent pulmonary conus and increased infiltration over the right lower lung field (Fig. 1B). A high-resolution computed tomography (HRCT) of the chest suspected an AVM with engorged right inferior pulmonary artery and its draining veins (Fig. 1C); but no focal lesions were found in the lung parenchyma. Right pulmonary artery angiogram showed several dilated and tortuous vessels from the right pulmonary artery, which directly connected to vessels draining into the right pulmonary vein over the right lower lobe of the lung (Fig. 1D).