Novel Mutation in a Patient with Cholesterol Ester Storage Disease

Figure 1

Computed tomography of abdomen and pelvis. The liver is enlarged, measuring up to 17 cm in width and craniocaudal dimension. The contour is smooth. The hepatic parenchyma is homogenous without a focal mass. There is no intrahepatic biliary dilatation. The portal and hepatic venous systems are patent and nondilated.