Pictorial Review of Tuberous Sclerosis in Various Organs

Abstract

Tuberous sclerosis is a rare autosomal dominant neurocutaneous syndrome characterized by the presence of benign congenital tumors in multiple organs. The diagnosis is usually established on the basis of diagnostic criteria applied to physical or radiologic findings. Because the classical triad of epilepsy, mental retardation, and adenoma sebaceum is uncommonly seen at clinical examination, radiologic examinations can play an important role in the diagnosis of tuberous sclerosis and in treatment. Cardiac rhabdomyoma, renal angiomyolipoma, and neurologic involvement encompassing cortical or subependymal tubers and white matter abnormalities are the common radiologic findings. Detection of these entities can be strong evidence for suspecting tuberous sclerosis. The presence of pulmonary lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia, or multiple renal cysts also raises suspicion of tuberous sclerosis. Moreover, tuberous sclerosis can involve bone, liver, and the alimentary tract. The clinical course and patient prognosis depend on the sites of manifestations. Familiarity with the clinical and radiologic findings in various organs is crucial in diagnosis and treatment.

Renal angiomyolipomas in tuberous sclerosis

“…Classical findings include the triad of adenoma sebaceum, seizures, and mental retardation. The inheritance is autosomal dominant; however, spontaneous mutation is described up to 66 % [1][2][3][4][5][6][7][8][9].…”

“…Furthermore, lymphangioleiomyomatosis, multifocal micronodular pneumocyte hyperplasia and renal cysts, as well as bone, liver and alimentary tract involvement may be found [2][3][4][5].…”

“…Angiomyolipomas usually are asymptomatic, when they are detected. However, follow-up, especially in case of large tumors, is obligatory due to the risk of rupture with consecutive bleeding [3,6]. In patients with tuberous sclerosis bilateral angiomyolipomas of the kidneys are found frequently (55-75%) [1].…”

Emergency embolization of actively bleeding renal angiomyolipoma in a patient of tuberous sclerosis

“…1 Imaging plays an integral role in work up owing to multisystem involvement of the syndrome. 2,3 Due to rupture of intralesional aneurysms, patient may present with acute flank pain, distension, hematuria and shock. 1,2 Image guided selective renal artery embolization is a minimally invasive procedure in both prophylactic and therapeutic setting with good response.…”

Tuberous sclerosis with rare presentation of macrodactyly

“…TS is a multisystem disorder with osseous manifestations in the spine, the pelvis and commonly the calvaria, and short tubular bones in the hand or foot [1]. Macrodactyly is a rare presentation of TS with overgrowth of the soft tissue, undulating periosteal reaction and cystic foci in the phalanges and metacarpal bones [2].…”