The radiological appearances of tuberous sclerosis.

Abstract

Tuberous sclerosis is an autosomal dominant disorder often associated with a chromosome 9 abnormality, although up to 60% of cases occur spontaneously. The incidence of the disorder is between 1/100,000 and 1/10,000, and it leads to multiple organ and skeletal abnormalities. The classical triad of epilepsy, mental retardation and adenoma sebaceum defines the syndrome clinically. Other cutaneous associations include shagreen patches, ash leaf-shaped areas of depigmentation, subungual fibromas and café-au-lait spots. This review describes the commoner radiological manifestations of the syndrome, and briefly mentions the rarer associations that have been reported to date.

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

“…AML is sporadic in about 80% of cases and associated with tuberous sclerosis in about 20% of cases. [1][2][3] Tuberous sclerosis is a neurocutaneous syndrome of hereditary predisposition, inherited by two genes, TSC1 coding hamartin and TSC2 coding tuberin.…”

“…The syndrome shows multisystem involvement with hamartomatous lesions, and presentation varies with age of the patient and organ of involvement. [1][2][3] According to Henry and Baskin, major criteria for diagnosis include facial angiofibroma or forehead plaque, periungual fibroma, hypomelanotic macules (more than three), shagreen patch, cortical tuber, subependymal nodule, subependymal giant cell astrocytoma, multiple retinal nodular hamartomas, cardiac rhabdomyoma, lymphangiomyomatosis, renal angiomyolipoma; and minor criteria include dental pits, hamartomatous rectal polyps, bone cysts, radial glial lines, gingival fibromas, non-renal hamartoma, retinal achromic patch, ''confetti'' skin lesions, multiple renal cysts. 1 Our patient showed presence of bilateral renal angiomyolipomas, calcified subependymal astrocytomas, calcified retinal hamartoma, lymphangioleiomyomatosis and cutaneous angiofibromas.…”

“…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.…”

Tüberosklerozda dev renal anjiyomyolipomlar: Bilgisayarlı tomografi bulguları Giant Renal Angiomyolipomas in Tuberous Sclerosis: Computed Tomography Findings

“…Tüberoskleroz, klinik klasik triadı epilepsi, mental retardasyon ve adenoma sebaseum olan otozomal dominant geçişli bir hastalıktır (3,4). Vücuttaki hemen tüm organlar tutulabilir.…”

“…Ancak en sık deri, beyin, göz, kalp ve böbreği tutan, benign hamartomatöz lezyonlar ile karakterizedir (3). Deri bulguları arasında hipomelanotik nodüller, subungual fibromlar ve cafe-au-lait lekeleri de bulunur (4,5). Santral sinir sistemi tutulumu en sık, %90'ı kalsifiye olan Olguların %45-66'sında kemik lezyonlarına rastlanır.…”