Comprehensive imaging manifestations of tuberous sclerosis

Abstract

Objective: The purposes of this article are to describe the abdominal manifestations of tuberous sclerosis, including renal and hepatic angiomyolipomas, splenic hamartomas, and renal cysts; the differentiation of renal angiomyolipomas from renal cell carcinoma by use of various imaging modalities; and the key imaging findings of intracranial subependymal nodules, giant cell astrocytomas, cortical tubers, lymphangioleiomyomatosis, cardiac rhabdomyomas, and osseous lesions.

Conclusion: Tuberous sclerosis is an autosomal dominant neurocutaneous syndrome characterized by various abnormalities, including multisystemic hamartomas. Correct diagnosis of this syndrome is imperative, not only by detecting cutaneous manifestations at physical examination but also by recognizing the characteristic multimodality imaging findings. Patients can present with a variety of symptoms, ranging from seizures to acute abdomen with life-threatening hemorrhage. The mortality rate is as high as 40% by the age of 35 years.

Keywords: angiomyolipoma; hamartoma; lymphangioleiomyomatosis; subependymal nodule; tuberous sclerosis.