Imaging of tuberous sclerosis complex: a pictorial review

Abstract

Tuberous sclerosis complex (TSC) is a genetically determined hamartomatous neurocutaneous disease with high phenotypic variability. TSC is characterized by widespread hamartomas and benign, or rarely malignant, neoplasms distributed in several organs throughout the body, especially in the brain, skin, retina, kidney, heart, and lung. Common manifestations include cortical tubers, subependymal nodules, white matter abnormalities, retinal abnormalities, cardiac rhabdomyoma, lymphangioleiomyomatosis, renal angiomyolipoma, and skin lesions. The wide range of organs affected by the disease implies that TSC1 and TSC2 genes play important roles in the regulation of cell proliferation and differentiation. Although recent advances in treatment have improved morbidity, the prognosis remains quite poor and nearly 40% of patients die by the age of 35 years. Imaging is important in the evaluation of TSC because of its role not only in presumptive diagnosis, but also in defining the full extent of involvement. This information allows a better understanding of the behavioural phenotype, as related to lesion location. Imaging also contributes to treatment planning. This pictorial review describes common and uncommon imaging manifestations of TSC.

Renal Angiomyolipoma: The Good, the Bad, and the Ugly

“…Relative to the sporadic form of AML, these hereditary lesions affect both genders equally and manifest at a younger age. They are likely to be multiple, large, and bilateral, and are prone to grow and be more aggressive [357]. …”

“…This pathway is important for angiogenesis, protein synthesis, and cell growth. Defective or deficient TSC1 or TSC2 activity leads to unchecked activation of mTOR and formation of characteristic hamartomas [267]. …”

“…It is characterized by diffuse interstitial proliferation of smooth muscle cells (LAM cells) and the presence of thin-walled cysts distributed throughout the lungs. These LAM cells have mutations in the same TSC1 and TSC2 genes [67]. …”

“…LAM, in association with TSC or in the sporadic form, is characterised by cystic changes within the lung parenchyma. This may lead to chylous pleural effusions, recurrent pneumothoraces, and cystic lung disease [2678]. …”

Lymphangioleiomyomatosis-associated spontaneous tension hemopneumothorax in multiple organ involvement tuberculosis

“…After 5 days, the patient was discharged with recovery. The kidneys of the TBS can develop AML, fat-density cysts, cortical cysts, and rarely, cancer (8,9). The most dangerous complication of renal AML is bleeding due to vascular rupture (8,9).…”