tuberous sclerosis radiographics

Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K. Pictorial review of tuberous sclerosis in various organs. (b) Contrast-enhanced CT image shows homogeneous enhancement of the tumors.Download as PowerPointOpen in Image They have a strong association with tuberous sclerosis. Although most asymptomatic renal AMLs do not require treatment, symptomatic lesions (especially a ruptured AML) may be treated by surgical or interventional procedures. TS can affect both sexes and all ethnic groups. MMPH can occur in patients with or without LAM, predominantly in female patients. 3 Lymphangiectasia within angiomyolipoma in a tuberous sclerosis patient Tuberous sclerosis is characterized by a variety of hamartomatous lesions in various organs. Retroperitoneal LAM is also seen (arrows). Introduction. Viewer 63, No. However, recent meta-analysis has shown that the overall incidence of renal cell carcinomas in patients with TS is identical to that in the general population (,52). Left renal AML is also seen (arrowheads). 0000004486 00000 n … Radiographics. Tuberous sclerosis complex is a genetic disorder characterized by hamartomatous lesions in multiple organs, frequently involving the kidney. 205, No. 2008; 28 … Figure 21. They are generally detected in infancy or early childhood and are typically round at one end and tapered at the other. Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K. Pictorial review of tuberous sclerosis in various organs. 2 3 This patient, however, suffered with persistent pulmonary symptoms including pneumothoraces, which was … 52, No. Ruptured renal AML in a 35-year-old woman. Tuberous sclerosis is usually diagnosed in infancy or early childhood because a child presents with seizures, developmental delay, or hypomelanotic macules. HASTE MR image demonstrates multiple high-intensity cystic lesions along the aorta and bilateral iliac arteries. Cystic white matter lesion in a 13-year-old girl. Figure 18. Therefore, only a minority of cases may present with arrhythmias or heart failure. startxref CT image of the chest demonstrates multiple lung cysts, suggesting pulmonary LAM. Pneumothorax associated with pulmonary LAM in a 37-year-old woman. (a) Axial T2-weighted and (b) T1-weighted MR images show a well-demarcated lesion (arrow) in the left frontal white matter, isointense to cerebrospinal fluid.Download as PowerPointOpen in Image Although the disease has complete penetrance, there is also high phenotypic variability: some patients … 2, American Journal of Roentgenology, Vol. endstream endobj 619 0 obj <>/Metadata 207 0 R/AcroForm 620 0 R/PieceInfo<>>>/Pages 203 0 R/PageLayout/OneColumn/StructTreeRoot 209 0 R/Type/Catalog/LastModified(D:20080709144952)>> endobj 620 0 obj <>/Encoding<>>>>> endobj 621 0 obj <>/ProcSet[/PDF/Text/ImageB/ImageC/ImageI]/ExtGState<>>>/Type/Page>> endobj 622 0 obj <> endobj 623 0 obj <> endobj 624 0 obj <> endobj 625 0 obj <> endobj 626 0 obj <> endobj 627 0 obj <> endobj 628 0 obj <> endobj 629 0 obj <> endobj 630 0 obj <>stream 43, No. Abdominal findings include renal angiomyolipomas, some of which may have vessel dilatation (macroaneurysm) and have the propensity to bleed when large enough. They are considered to be closely related to the neurologic manifestations of TS, including epilepsy, cognitive disability, and neurolobehavioral abnormalities. Renal involvement of TS includes renal angiomyolipoma (AML), renal cysts, and renal cell carcinoma. Figure 2c. Although the pathogenesis of cystlike lesions remains unclear, they are considered to reflect cystic degeneration of white matter or dilated perivascular spaces (,11). The cause of death varies depending on the patient’s age (,Table 2) (,3). Subependymal giant cell astrocytoma in a 24-year-old man. (c) Selective left renal arteriogram shows multiple aneurysms in the tumor.Download as PowerPointOpen in Image Enter your email address below and we will send you the reset instructions. (c) Upper gastrointestinal endoscopy demonstrates multiple gastric polyps. Renal AMLs with minimal fat in a 19-year-old man. Intestinal polyposis in a 33-year-old man. ���6%�*����s��Β]4쬄��)� �L�S$�k�I8������D�����y�&̖ ��m�����p\���-��\r��?�3�]�x�o�M��C�4ڤЍ��(�������x Intestinal polyposis in a 33-year-old man. Echocardiography is noninvasive and can be useful in detection and follow-up of cardiac rhabdomyoma (Movie 1 available at http://radiographics.rsnajnls.org/cgi/content/full/e32/DC1). Axial T1-weighted MR image clearly demonstrates bilateral subependymal tubers with intermediate signal intensity (arrows).Download as PowerPointOpen in Image The central nervous system findings were the first to be described, and the classic triad of cognitive impairment, facial angiofibromas, and seizures was delineated shortly thereafter. Tuberous sclerosis is a generally determined condition often transmitted as an autosomal dominant, but with numerous sporadic cases [2]. Cystic white matter lesion in a 13-year-old girl. TS has been considered to be caused by mutations of two genes known as TSC1 and TSC2. %%EOF 2, 15 January 2015 | RadioGraphics, Vol. The purpose of this article is to illustrate the various manifestations that can be encountered on thoracic computed tomography of tuberous sclerosis in adults. 22, No. 2, Radiologic Clinics of North America, Vol. A variety of intracranial manifestations of TS are known. 1, 4 November 2011 | Wiener klinische Wochenschrift, Vol. Viewer. 211, No. Viewer. CT scan demonstrates multiple tiny nodules (arrows), with random distribution in the lungs. (c) Upper gastrointestinal endoscopy demonstrates multiple gastric polyps. However, it should be recognized that half of TS patients have normal intelligence and that a quarter do not have epilepsy. 55, No. SGCAs are characterized by proliferative astrocytes and giant cells, with a prevalence 1.7%–26% in patients with TS (,16). It was surgically proved to be a chromophobe renal cell carcinoma.Download as PowerPointOpen in Image Other rare CNS manifestations include mild dilatation of lateral ventricles due to atrophy or dysgenesis, cerebellar atrophy, infarction caused by occlusive vascular disorders, cerebral aneurysm, dysgenesis of the corpus callosum, Chiari malformation, microcephaly, macroencephaly, arachnoid cyst, neurofibromatosis, and chordoma. Typical CT findings of renal AMLs are noncalcified cortical tumors containing fat of less than −20 HU (,Fig 13) (,45). 3, Revista Médica Internacional sobre el Síndrome de Down, Vol. Unenhanced CT shows multiple, calcified nodules in a periventricular, subependymal distribution bilaterally in dilated lateral ventricles, characteristic of tuberous sclerosis. (a, b) Contrast-enhanced CT images of different levels demonstrate multiple high-attenuation polypoid lesions (arrows) in the small intestine. J Nephrol 2019;32:355-63. (c) Selective left renal arteriogram shows multiple aneurysms in the tumor. Surgical resection should be considered only if patients present with refractory arrhythmias or hemodynamic compromise. 0 Cortical tubers in a 40-year-old woman. Viewer Introduction. Cortical tubers and most CNS manifestations of tuberous sclerosis are best demonstrated on MRI. Figure 4. These osseous lesions can occur anywhere in bone, commonly in the calvaria, short tubular bones of the hand or foot, spine, and pelvis. Tuberous sclerosis (TS) is an autosomal dominant inherited neurocutaneous syndrome characterized by a variety of hamartomatous lesions in various organs. xref Angiomyolipomas (AMLs) and cysts are the two characteristic types of renal lesion in TSC. INTRODUCTION. Cortical tubers are developmental abnormalities of the cerebral cortex in patients with TS, characterized by a loss of the normal six-layer structure of the cortex and the presence of dysmorphic neurons and large astrocytes. 10, 6 May 2019 | RadioGraphics, Vol. 0000003761 00000 n Ruptured renal AML in a 35-year-old woman. Tuberous sclerosis is an autosomal dominant neurocutaneous syndrome characterized by various abnormalities, including multisystemic hamartomas. Although other retroperitoneal cystic tumors such as lymphangioma can be considered as differential diagnoses, when retroperitoneal cystic masses are found in patients with TS, retroperitoneal LAM should be suspected, unless a retroperitoneal abscess or tumor is clinically suggested. Figure 2a. Radial white matter bands reflect altered development along the migratory pathways of neurons and glial cells. Regulates the Balance Between Osteoblast and Adipocyte Differentiation Through Autophagy/Notch1/β-Catenin Cascade, Thoracoabdominal imaging of tuberous sclerosis, KT IR MRT EPILEPSIJOS DIAGNOSTIKOJE: METODAI, RADINIAI, GALIMYBĖS. 5, 19 July 2018 | Journal of Bone and Mineral Research, Vol. Tuberous sclerosis complex renal disease. Since the hamartomatous nature of micronodular epithelial proliferations has been emphasized, the terms multiple adenomatoid tumors, acinar atypical adenomatoid proliferation of epithelium, and micronodular hyperplasia of type II pneumocytes have been proposed as being more descriptive names. 46, No. The new SEGA very rarely arises after 20-25 years of age.1. Different from other cerebral astrocytomas, SGCAs have benign biologic and pathologic features (ie, slow growth, minimal or no attendant brain edema, and minimal invasiveness). Presented as an education exhibit at the 2007 RSNA Annual Meeting. The most common radiographic manifestations are: 1. cortical or subependymal tubersand white matter abnormalities 2. renal angiomyolipomas 3. cardiac rhabdomyoma(s) 1. cortical/subcortical tubers: 50% are in the frontal lobe; high T2 and low T1 with only 10% of tubers showing enhancement; frequently calcify after two years of age 2. subependymal hamartomas 2.1. TSC arises from inactivating mutations of either TSC1 (chromosome locus 9q34.3) or TSC2 (16p13.3), which encode hamartin and tuberin, respectively. AJR. A variety of subtypes of renal call carcinoma, including clear cell, papillary, and chromophobe carcinoma have been reported in patients with TS (,9). A variety of digestive organs have been reported to be involved in patients with TS, including the alimentary tract, hepatobiliary system, and pancreas. The second most common renal manifestation of TS is renal cysts. Enter your email address below and we will send you your username, If the address matches an existing account you will receive an email with instructions to retrieve your username. H��Wks۸��_����v7;�����Qꉔvv�~�)DDE,I�����(>�t}��܃��'��O�f}��=�?�����nq�vCоZxh��e_�r�a��8�&����Cm?/E��W�c/B!�8�Cۗ�ߝb���R�J*�h���uk�V����A%CT�G�XD=/Z"�a�2�!9{,Eg;��!�^p�\Pb>�U:K�8NF����:��i9��c:DB6�o�6�+̾Kl����l�4+��:�Wa�c�_Gc�h'��u�v�a��1y�g6�t���)�����C��X�zRI�rG���ᮨ��}�_�����%��uc�4ϲt)q�y��`fxf&7�=��~��h�d M͜JUH�Ș��S�sJ�� Related symptoms include abdominal bloating or discomfort, lymphedema of the lower extremities, paresthesia of the lower extremities, nocturia, incontinence, perineal swelling, chylous vaginal discharge, and palpitation. An exquisite fresh case is being narrated, emphasizing its microscopic pathology. MMPH is a rare pulmonary disorder that can be associated with TS. 6, Korean Journal of Radiology, Vol. 6, Indian Journal of Radiology and Imaging, Vol. Pneumothorax can be seen in the right thoracic cavity (arrows). • Rimon U, Duvdevani M, Garniek A, Golan G, Bensaid P, Ramon J, Morag B. Ethanol and polyvinyl alcohol mixture for transcatheter embolization … Tuberous sclerosis complex (TSC) is a well-known clinical entity, characterized by facial angio-fibroma, shagreen patch, and hypo-melanotic, and confetti-like skin lesions. Crossref Medline Google Scholar; 7 European Chromosome 16 Tuberous Sclerosis Consortium . 1998 Dec. 13(12):619-23. . ���&��O]*jZ�T4��Ӷ% w6B]r�i/���� $����*::���F C�$����R��1[ ��I�P���`` Radiology. Hypopigmented macules, which have been called “ash leaf spots” after the European mountain ash tree, occur in more than 90% of patients with TS (,10). Coronal half-Fourier-acquisition single-shot turbo spin-echo (HASTE) MR image demonstrates bilateral loculated pleural effusion and ascites. Calcified subependymal tubers are also seen. Cardiac rhabdomyoma is a benign striated muscle tumor characterized by the presence of “spider cells,” which are so named because of their radial cytoplasmic extensions. Intestinal leiomyoma in a 52-year-old woman (same patient as in ,Fig 17,). Fatty Images of the Heart: Spectrum of Normal and Pathological Findings by Computed Tomography and Cardiac Magnetic Resonance Imaging, Abdominal Imaging Findings in Neurocutaneous Syndromes: Looking Below the Diaphragm, Improvement in Renal Cystic Disease of Tuberous Sclerosis Complex After Treatment with Mammalian Target of Rapamycin Inhibitor, Spectrum of Syndromic Disorders Associated with Pediatric Tumors, Sclerotic bone lesions in tuberous sclerosis complex: A genotype-phenotype study, Hamartomas from head to toe: an imaging overview, Imaging of tuberous sclerosis complex: a pictorial review, Tuberous sclerosis complex: imaging the pieces of the puzzle, A patient with tuberous sclerosis in whom dialysis was introduced due to hemorrhaging from oncocytic papillary renal cell carcinoma, Distinguishing Untreated Osteoblastic Metastases From Enostoses Using CT Attenuation Measurements, Cross-sectional Imaging Review of Tuberous Sclerosis, Asociación síndrome de Down-esclerosis tuberosa y sus similitudes en la sobreactivación de las vías m-TOR. Viewer Roach ES, DiMario FJ, Kandt RS, … The TSC2 gene consists of 41 exons and is distributed over 44 kbp of genomic DNA. Cortical tubers are also seen (arrowheads).Download as PowerPointOpen in Image 1 Although 30–40% of adult women with TSC are found to have TSC-LAM, 1 the pulmonary disease is usually less severe than in women with sporadic LAM (S-LAM). Cardiac rhabdomyomas, which may be multiple or single, are commonly located on the ventricular septum. (a) Unenhanced CT image shows a fat-containing tumor in the left kidney. Calcified subependymal tubers are also seen. The clinical triad of tuberous sclerosis in a young female includes seizures, intellectual retardation, and adenoma sebaceum. (c) Upper gastrointestinal endoscopy demonstrates multiple gastric polyps. 49, No. Although most patients with hepatic AMLs are asymptomatic, some may present with abdominal pain, general malaise, abdominal discomfort, and upper-abdominal mass. 123, No. (b) Axial fluid-attenuation inversion-recovery MR image also demonstrates cortical tubers as hyperintense foci (arrows). Umeoka S, et al. Figure 12. Figure 15a. (b) Contrast-enhanced CT image demonstrates an aneurysm in the tumor (arrow). It is one of the common manifestations of TS, with a frequency of 50%–65 %; conversely, 40%–80% of patients with cardiac rhabdomyoma have TS (,31–,34). (b) Unenhanced CT image at superior level to that in a reveals secondary hydrocephalus.Download as PowerPointOpen in Image Figure 5b. Figure 21. (a) Unenhanced CT image shows a fat-containing tumor in the left kidney. Figure 17a. The aim of the present study is to contribute to the knowledge of the natural history of cardiac rhabdomyoma in children with and without tuberous sclerosis. Ungula fibromas are nodular lesions located beneath the nails of the toes or fingers. MMPH is a rare disorder that has been described in few literature reports. Calcified subependymal tubers are also seen. Siroky BJ, Yin H, Bissler JJ. When a mass is centered on the choroid plexus, a highly vascular tumor-either choroid plexus papilloma, choroid plexus carcinoma, meningioma, or metastasis-should be suspected. (b) Axial fluid-attenuation inversion-recovery MR image also demonstrates cortical tubers as hyperintense foci (arrows). (a) Axial T2-weighted MR image depicts cortical tubers as hyperintense lesions (arrows). This case demonstrates typical features of tuberous sclerosis, and the diagnosis can be made with a high degree of certainty merely on imaging features. MMPH in a 19-year-old man. Detection of these skin lesions can be a first step in diagnosing TS, since they are the only major diagnostic criteria that can be evaluated at clinical examination (,Table 1). Radiographics. 1, 31 January 2018 | Giornale di Tecniche Nefrologiche e Dialitiche, Vol. 1, Journal of Computer Assisted Tomography, Vol. A variety of mutations can occur in TS patients: More than 200 TSC1 and almost 700 TSC2 allelic variants have been reported (,7,,8). Right renal AML is also seen.Download as PowerPointOpen in Image Hyperattenuating material suggestive of hemorrhage is also seen in and around the tumor. Pneumothorax associated with pulmonary LAM in a 37-year-old woman. The diagnosis is usually established on the basis of diagnostic criteria applied to physical or radiologic findings. Contrast-enhanced CT image demonstrates well-defined tumor in the mesentery, attached to the small intestine (arrow). Table 2.Main Causes of Death Correlated with Age Group, Radiologic Clinics of North America, Vol. The recently advocated criteria for diagnosis of TS consist of both major and minor diagnostic features (,Table 1). Renal cell carcinoma in a 52-year-old woman. Figure 5b. Viewer TSC is also one of the leading causes of severe central neural system disorders, epilepsy, mental retardation, and autism among children 1,2). Pulmonary LAM in a 29-year-old woman. Moreover, tuberous sclerosis can involve bone, liver, and the alimentary tract. Viewer. White matter changes are also noted, manifested with multiple subcortical white matter hypodensities and a cystic lesion (cystoid degeneration). Other rare thoracic involvements include LAM involvement of the mediastinum or thoracic duct and aortic or pulmonary artery aneurysm (,39–,41). Tuberous sclerosis the majority being sporadic (85%) in an autosomal dominant fashion (15%). These lesions are considered rare, yet they are purported to occur in up to 44% of TS patients (,11). Figure 7a. Except for SGCAs, these abnormalities can be seen in almost all patients with TS. 2011; 118:e15–20. Magnetic resonance (MR) imaging is more applicable than computed tomography (CT) for detection of cortical tubers (,14). Recent advances in cytogenetics and pathophysiology have been made toward understanding the functions of the hamartin-tuberin complex (,9). Viewer Tuberous sclerosis complex (TSC) is a rare autosomal dominant neurocutaneous syndrome characterised by benign congenital tumours affecting multiple organs, most frequently the brain, eyes, kidneys, heart and skin. The estimated prevalence ranges from one in 6000 to one in 12 000 (,1), and approximately two-thirds of the cases are sporadic (,2). Pediatr Nephrol. Renal and hepatic AMLs in a 56-year-old woman. Viewer. Shigeaki Umeoka, Takashi Koyama, Yukio Miki, Mikio Akai, Kazushige Tsutsui, and Kaori Togashi. A variety of hepatobiliary lesions have been described in patients with TS, including hepatomegaly, AMLs, lipomas, hamartomas, and fibromas. (b) Unenhanced CT image at superior level to that in a reveals secondary hydrocephalus.Download as PowerPointOpen in Image (b) Axial fluid-attenuation inversion-recovery MR image also demonstrates cortical tubers as hyperintense foci (arrows). Facial angiofibroma in a 19-year-old man. Very large macroaneurysms are rarely seen in imaging of these patients. Figure 9. 2015; 2014(5):933-43. Recently, these lesions have come to be commonly called MMPH, taking their pathogenesis and locations into account. Hyperattenuating material suggestive of hemorrhage is also seen in and around the tumor. It is located on the long arm of chromosome 9 (9q34) and encodes a 130-kDa protein called hamartin. ); and the Department of Diagnostic Imaging and Nuclear Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan (Y.M., K. Togashi). White matter abnormalities in patients with TS include (a) superficial white matter abnormalities associated with cortical tubers, (b) radial white matter bands, and (c) cystlike white matter lesions. (a) Biphasic contrast-enhanced CT image during the corticomedullary phase demonstrates a well-defined tumor with nonhomogeneous enhancement in the left kidney. Patients can present with a variety of symptoms, … 54, No. 2, 10 June 2015 | Radiology, Vol. Patients can present with a variety of symptoms, … Viewer. Viewer Figure 22. Thin-section CT scan demonstrates multiple lung cysts with well-defined thin walls. At thin-section CT, multiple tiny nodules (1–8 mm in diameter) are diffusely scattered throughout the lung in a random distribution (,Fig 12). Superficial white matter abnormalities are related to almost all cortical tubers. Although renal cysts are generally asymptomatic, they can more frequently cause subsequent hypertension or renal failure than can renal AMLs (,9). Radiographics. Figure 19a. Viewer TS can present with a variety of skin lesions, including hypopigmented macules, facial angiofibromas, shagreen patches, and ungula fibromas. Figure 2c. 76, 4 August 2017 | European Radiology, Vol. 4, 9 May 2017 | American Journal of Medical Genetics Part A, Vol. Gould et al documented that 14 of 18 (78%) patients with TS had intestinal polyps (,55). Renal AMLs with minimal fat in a 19-year-old man. (a) Biphasic contrast-enhanced CT image during the corticomedullary phase demonstrates a well-defined tumor with nonhomogeneous enhancement in the left kidney. 20, No. 50-90% will be found in the frontal lobes 1. Sporadic lymphangioleiomyomatosis and tuberous sclerosis complex with lymphangioleiomyomatosis: comparison of CT features. 90, No. The central nervous system findings were the first to be described, and the classic triad of cognitive impairment, facial angiofibromas, and seizures was delineated shortly thereafter. Tuberous sclerosis is an autosomal dominant neurocutaneous syndrome characterized by various abnormalities, including multisystemic hamartomas. Generally, the distribution of the cysts is symmetric and uniform throughout the lungs.

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