Tuberous sclerosis related-lesions detected by postmortem computed tomography

Abstract Tuberous sclerosis (TS) is an autosomal-dominant inherited neurocutaneous syndrome characterized by the presence of hamartomatous lesions in organs such as the skin, eye, brain, lung, heart, kidney and bone. Since evaluation of this disorder has been revolutionized by computed tomography (CT) and magnetic resonance imaging (MRI), the radiologic manifestations of TS have become clinically important for diagnosis. However, it has remained unclear whether postmortem computed tomography (PMCT) is available for recognition of the various organ manifestations of TS in deceased individuals. We present two autopsy cases in which PMCT indicated subependymal calcified tuberous lesions in the brain, cysts or multiple tiny nodules associated with lymphangiomyomatosis or multifocal micronodular pneumocyte hyperplasia in the lungs, respectively, angiomyolipoma in the kidneys, lipoma in the liver, multiple sclerotic lesions in the pelvis and vertebrae, and scoliosis. Such lesions are characteristic of TS. In this way we were able to confirm the validity of PMCT for demonstrating lesions associated with TS in these two cases, and its usefulness for complementing the findings of autopsy in patients with TS.