The most common manifestation of gastrointestinal involvement is polyps, which are frequently multiple and can occur anywhere from the esophagus to the rectum (,Fig 19,,,). Cortical tubers in a 40-year-old woman. The reported frequency of radial white matter abnormalities is 15%–27% and of cystlike lesions is 15%–44% (,11,,28,,29). Cystic white matter lesion in a 13-year-old girl. (b) Axial fluid-attenuation inversion-recovery MR image also demonstrates cortical tubers as hyperintense foci (arrows). Coronally reformatted unenhanced CT image demonstrates multiple islands of increased attenuation within the calvaria.Download as PowerPointOpen in Image Although no significant difference in incidence has been found, renal cell carcinomas associated with TS tend to occur in younger patients and to grow more slowly (,10). SEGAs are one of the major diagnostic criteria for tuberous sclerosis (TSC) and their incidence in TSC varies from 10% to 20%. 4, © 2021 Radiological Society of North America, Open in Image Figure 19c. TS can present with a variety of skin lesions, including hypopigmented macules, facial angiofibromas, shagreen patches, and ungula fibromas. Cortical lesions are sometimes associated with subperitoneal new bone deposition. Non-Traumatic Disease. (a) Unenhanced CT image demonstrates high-attenuation tumor around the foramen of Monro (arrow). Classical angiomyolipomas are benign tumours composed of various tissues, including components of fat, abnormal blood vessels and smooth muscle cells. Because no single clinical manifestation is diagnostic for TS according to these diagnostic criteria, all clinical features should be evaluated. Hyperattenuating material suggestive of hemorrhage is also seen in and around the tumor. 5, International Medical Review on Down Syndrome, Vol. Familiarity with the clinical and radiologic findings in various organs is crucial in diagnosis and treatment. 20, Journal of Evolution of Medical and Dental Sciences, Vol. (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. 33, No. 1998 Dec. 13(12):619-23. . It was surgically proved to be a chromophobe renal cell carcinoma.Download as PowerPointOpen in Image Tuberous sclerosis is a rare autosomal dominant neurocutaneous syndrome characterized by the presence of benign congenital tumors in multiple organs. Viewer. 71, No. Figure 16. Viewer 173, No. It is characterized by multicentric, well-demarcated nodular proliferation of type II pneumocytes along alveolar septa. Left renal AML is also seen (arrowheads). 1, 13 July 2018 | Journal of Patient-Reported Outcomes, Vol. Hyperattenuating material suggestive of hemorrhage is also seen in and around the tumor. (c) On an axial T1-weighted MR image, these tubers are difficult to detect, probably because the peripheral component is isointense to normal gray matter and the inner component is isointense to white matter.Download as PowerPointOpen in Image Figure 2b. Right renal AML is also seen.Download as PowerPointOpen in Image Subependymal calcified tubers in a 9-month-old boy. Aggressive drainage of chylous pleural effusions should be avoided because it may lead to protein loss. (d) Colonoscopy reveals multiple polyps in the colon. Tuberous sclerosis is an autosomal dominant neurocutaneous syndrome characterized by various abnormalities, including multisystemic hamartomas. Although the pathogenesis of cystlike lesions remains unclear, they are considered to reflect cystic degeneration of white matter or dilated perivascular spaces (,11). Tuberous sclerosis has a significant number of manifestations, involving many organ systems. Figure 9. Viewer The probability of rupture depends on the formation of an aneurysm, which is related to the size of the renal AML (,48). Viewer. Radial white matter bands in an 8-month-old boy. 6, Journal of Nihon University Medical Association, Vol. Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder. Identification and characterization of the tuberous sclerosis gene on chromosome 16. Generally, the distribution of the cysts is symmetric and uniform throughout the lungs. Figure 2a. 1, 31 January 2018 | Giornale di Tecniche Nefrologiche e Dialitiche, Vol. AJR. Renal and hepatic AMLs in a 56-year-old woman. Except for SGCAs, these abnormalities can be seen in almost all patients with TS. Viewer Unenhanced CT typically depicts multiple small foci with dense calcification along the lateral ventricles bilaterally (,Fig 3). Retroperitoneal LAM in a 37-year-old woman (same patient as in ,Fig 9). From the Department of Radiology, Japanese Red Cross Society, Wakayama Medical Center, Wakayama, Japan (S.U., M.A., K.Tsutsui); Department of Radiology, Kyoto University Hospital, 54 Kawahara-cho, Shogoin, Sakyo, Kyoto 606-8507, Japan (T.K. 0000007394 00000 n White matter cystlike lesions are located in deep white matter, typically near the lateral ventricles (,11). Figure 2a. Figure 11. (b) Axial fluid-attenuation inversion-recovery MR image also demonstrates cortical tubers as hyperintense foci (arrows). 9, 5 July 2018 | Neurologijos seminarai, Vol. Tuberous sclerosis complex (TSC) is a rare multisystem autosomal dominant genetic disease that causes non-cancerous tumours to grow in the brain and on other vital organs such as the kidneys, heart, liver, eyes, lungs and skin.A combination of symptoms may include seizures, intellectual disability, developmental delay, behavioral problems, skin abnormalities, lung disease, and kidney disease. On CT, they are seen as areas of calcification, although this is more commonly demonstrated as subependymal nodules. We discuss and illustrate central nervous system (CNS), cardiovascular, pulmonary, renal, retroperitoneal, hepatic, gastrointestinal, and skeletal involvement of TS. (a) Axial T2-weighted MR image depicts cortical tubers as hyperintense lesions (arrows). 3, Clinical and Experimental Dermatology, Vol. 2 3 This patient, however, suffered with persistent pulmonary symptoms including pneumothoraces, which was … This case is known for tuberous sclerosis on antiepileptic treatment presented for follow up. Viewer. trailer 7, 10 June 2011 | The Indian Journal of Pediatrics, Vol. However, it should be recognized that half of TS patient… Figure 19a. Autism is commonly seen in patients with frontal and parietotemporal tubers (,12,,13). Coronal half-Fourier-acquisition single-shot turbo spin-echo (HASTE) MR image demonstrates bilateral loculated pleural effusion and ascites. Most cardiac rhabdomyomas regress before birth, and more than 80% of the tumors cause no clinical manifestations at birth (,35). An exquisite fresh case is being narrated, emphasizing its microscopic pathology. (d) Colonoscopy reveals multiple polyps in the colon. Renal AMLs with minimal fat in a 19-year-old man. Calcified subependymal tubers are also seen. ); and the Department of Diagnostic Imaging and Nuclear Medicine, Graduate School of Medicine, Kyoto University, Kyoto, Japan (Y.M., K. Togashi). These common CNS manifestations can be an adequate clue for suspecting TS. Comprehensive Imaging Manifestations of Tuberous Sclerosis. Sporadic lymphangioleiomyomatosis and tuberous sclerosis complex with lymphangioleiomyomatosis: comparison of CT features. Viewer Tuberous sclerosis complex renal disease. Subependymal calcified tubers in a 9-month-old boy. (a) Biphasic contrast-enhanced CT image during the corticomedullary phase demonstrates a well-defined tumor with nonhomogeneous enhancement in the left kidney. Tuberous sclerosis complex (TSC) is an inheritable multiorgan disease. It was surgically proved to be a chromophobe renal cell carcinoma.Download as PowerPointOpen in Image Radiologic assessment is useful not only in diagnosis but also in determining treatment. Radiographics. 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). Tuberous sclerosis complex: new insights into clinical and therapeutic approach. 81, Nihon Shoni Jinzobyo Gakkai Zasshi, Vol. (c) Selective left renal arteriogram shows multiple aneurysms in the tumor.Download as PowerPointOpen in Image Figure 11. 0000001574 00000 n 2013; 49:255–265. Figure 10. If the functions of tuberin are altered, Rheb-GTP is excessively generated, resulting in enhanced stimulation of the mammalian target of rapamycin (mTOR), which plays an important role in the control of cell growth and proliferation. Figure 16. 5, 19 July 2018 | Journal of Bone and Mineral Research, Vol. Tuberous sclerosis is characterized by a variety of hamartomatous lesions in various organs. Figure 3. (b) Contrast-enhanced CT image shows homogeneous enhancement of the tumors.Download as PowerPointOpen in Image 2008; 28 … Tuberous sclerosis is a genetic disorder, where cellular differentiation and proliferation result in hamartoma formation in the skin, brain, eye, kidney, and heart. 3, Nephrology Dialysis Transplantation, Vol. Patients can present with a variety of symptoms, … Axial unenhanced CT image demonstrates multiple fat-containing tumors in the kidneys.Download as PowerPointOpen in Image (d) Colonoscopy reveals multiple polyps in the colon.Download as PowerPointOpen in Image 28, No. Viewer Ungula fibromas are nodular lesions located beneath the nails of the toes or fingers. (c) On an axial T1-weighted MR image, these tubers are difficult to detect, probably because the peripheral component is isointense to normal gray matter and the inner component is isointense to white matter. CT is a useful tool for detection of subependymal nodules, since they are associated with calcification far more commonly (88%) than are cortical tubers. However, it should be recognized that half of TS patients have normal intelligence and that a quarter do not have epilepsy. MMPH in a 19-year-old man. Tuberous sclerosis with rare presentation of macrodactyly. 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. Figure 6. Tuberous Sclerosis. 20, No. Figure 19b. Cardiac rhabdomyomas, which may be multiple or single, are commonly located on the ventricular septum. Tuberous sclerosis complex (TSC) is a rare autosomal dominant, multisystem neurocutaneous syndrome that can affect the brain, eyes, heart, kidneys, lungs, and skin. Tuberous sclerosis complex (TSC) is a genetically determined hamartomatous neurocutaneous disease with high phenotypic variability. Four common CNS abnormalities are cortical tubers, subependymal nodules, subependymal giant cell astrocytomas (SGCAs), and white matter abnormalities. (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. A variety of mutations can occur in TS patients: More than 200 TSC1 and almost 700 TSC2 allelic variants have been reported (,7,,8). Figure 7b. Unenhanced CT shows multiple, calcified nodules in a periventricular, subependymal distribution bilaterally in dilated lateral ventricles, characteristic of tuberous sclerosis. Figure 14b. Clinically, patients with MMPH may present with dyspnea, cough, and mild to moderate hypoxemia. TS has been considered to be caused by mutations of two genes known as TSC1 and TSC2. 7, The British Journal of Radiology, Vol. The diagnosis is usually established on the basis of diagnostic criteria applied to physical or radiologic findings. Retroperitoneal LAM is also seen (arrows). Jinzaki et al suggested that AMLs with minimal fat should be considered when the tumor demonstrates (a) hyperattenuation at unenhanced CT, (b) homogeneous enhancement, (c) hypointensity on T2-weighted MR images, and (d) homogeneous isoechogenicity at ultrasonography (,Fig 14,) (,50,,51). Shigeaki Umeoka, Takashi Koyama, Yukio Miki, Mikio Akai, Kazushige Tsutsui, and Kaori Togashi. As opposed to renal AMLs, renal cysts occur in younger children (,10). MMPH is a rare disorder that has been described in few literature reports. , The credit of its initial description, in the year 1862, goes to Von Recklinghausen, while Désiré-Magloire Bourneville coined the term sclerose tubereuse; the current name is its derivative. 2008; 28 … The new SEGA very rarely arises after 20-25 years of age.1. Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, et al. Cortical tubers in a 40-year-old woman. Figure 21. Although differentiation of MMPH from miliary metastatic or granulomatous disease is difficult, MMPH should be considered in the differential diagnosis when multiple tiny pulmonary nodules are present in patients with TS (,38). Pulmonary involvement of TS includes lymphangioleiomyomatosis (LAM) and multifocal micronodular pneumocyte hyperplasia (MMPH). 35, No. (a, b) Contrast-enhanced CT images of different levels demonstrate multiple high-attenuation polypoid lesions (arrows) in the small intestine. At MR imaging, subependymal nodules are hyperintense on T1-weighted images and iso- to hyperintense on T2-weighted images (,Fig 4). 39, No. Viewer. All authors have no financial relationships to disclose. (b) Contrast-enhanced CT image demonstrates an aneurysm in the tumor (arrow). Bone changes in tuberous sclerosis mimicking metastases. A propòsit d’un cas, Diagnostic Imaging of Autosomal Dominant Polycystic Kidney Disease, Tuberous sclerotic complex patients with renal replacement therapy: a single center experience with five cases, Myocardial Fatty Foci in Adult Patients with Tuberous Sclerosis Complex: Association with Gene Mutation and Multiorgan Involvement, Vascular, Gastrointestinal, and Urogenital Associations of Tuberous Sclerosis: Classic but Less Known, Neural Crest-Specific TSC1 Deletion in Mice Leads to Sclerotic Craniofacial Bone Lesion, Lésions ostéocondensantes multiples de petite taille révélant un carcinome lobulaire invasif du sein, Comprehensive Imaging Manifestations of Tuberous Sclerosis, Computed Tomographic Imaging of Renal and Ureteral Emergencies, Multiple small sclerotic bone lesions revealing invasive lobular breast carcinoma, CT and MR Imaging for Evaluation of Cystic Renal Lesions and Diseases, Neu aufgetretene Dyspnoe bei einer jungen erwachsenen Patientin mit beidseitigen renalen Angiomyolipomen, Emergency embolization of actively bleeding renal angiomyolipoma in a patient of tuberous sclerosis, The Myriad of Diseases That Present With Polyostotic Bone Lesions, Ophthalmic Manifestations of Systemic Diseases—Part 1: Phakomatoses, Hematologic malignancies, Metastases, and Histiocytosis, Clear Vision Through the Haze: A Practical Approach to Ground-Glass Opacity, Friend or foe: high bone mineral density on routine bone density scanning, a review of causes and management, Bone scintigraphy may help differentiate bone sclerotic lesions from osteoblastic metastases in tuberous sclerosis patients with concomitant pulmonary adenocarcinoma, Hiperplasia micronodular neumocitaria multifocal en una paciente con esclerosis tuberosa, Reversed Halo Sign in Tuberous Sclerosis Complex, Multifocal Micronodular Pneumocyte Hyperplasia in a Patient With Tuberous Sclerosis, Tuberous sclerosis diagnosed by incidental computed tomography findings of multifocal micronodular pneumocyte hyperplasia: a case report, Cystic lung disease is not uncommon in men with tuberous sclerosis complex, Malformations of cortical development of the human brain: A pictorial essay, The “CHAFT” Mnemonic for Lesions in the Brain and Spine With Low T2 Signal Intensity, Targeted Therapies in Sarcomas: Challenging the Challenge, Tuberous Sclerosis Complex: Imaging Findings, Cystic Renal Neoplasms and Renal Neoplasms Associated With Cystic Renal Diseases in Adults, Massive bilateral renal angiomyolipomatosis and multifocal micronodular pneumocytes hyperplasia associated with tuberous sclerosis: A case report, Variabilità delle lesioni renali nella Sclerosi Tuberosa, Genitourinary and Retroperitoneal Findings in 3 Neurocutaneous Syndromes: Tuberous Sclerosis, Neurofibromatosis, and Von Hippel-Lindau Disease, Prenatal and Postnatal MRI Diagnosis of Cerebral Tuberous Sclerosis, All in the Family:  Current Update on Genetics and Imaging of Hereditary Renal Cell Carcinomas, Hereditary Renal Cystic Disorders: Imaging of the Kidneys and Beyond, Abdominal Manifestations of Neurologic Disorders, Adult Renal Cystic Disease: A Genetic, Biological, and Developmental Primer. Manoukian SB and Kowal DJ. (a) Biphasic contrast-enhanced CT image during the corticomedullary phase demonstrates a well-defined tumor with nonhomogeneous enhancement in the left kidney. Ruptured renal AML in a 35-year-old woman. 54, No. Hyperattenuating material suggestive of hemorrhage is also seen in and around the tumor. 49, No. 2008;372:657-668. Renal angiomyolipoma without visible fat: Can we make the diagnosis using CT and MRI? Viewer (b) Axial fluid-attenuation inversion-recovery MR image also demonstrates cortical tubers as hyperintense foci (arrows). Cur a tolo P, Bombardieri R, Jozwiak S. Tuberous sclerosis. TSC arises from inactivating mutations of either TSC1 (chromosome locus 9q34.3) or TSC2 (16p13.3), which encode hamartin and tuberin, respectively. 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 49, No. Logue LG, Acker RE, Sienko AE (2003) Best cases from the AFIP: angiomyolipomas in tuberous sclerosis. When subependymal nodules are located near the foramen of Monro and they measure more than 5 mm in diameter, are not or are incompletely calcified, and are enhanced by gadolinium, repeat MR imaging should be recommended (,26). Unenhanced CT clearly demonstrates multiple subependymal tubers with bilateral calcification along the walls of the lateral ventricles.Download as PowerPointOpen in Image Tuberous sclerosis complex (TSC) is a genetic syndrome with a highly variable phenotype that may affect several organ systems. At MR imaging, small well-demarcated lesions of similar intensity to that of cerebrospinal fluid with all sequences are seen in white matter (,Fig 7,). Intestinal polyposis in a 33-year-old man. 0000006960 00000 n 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. Cortical tubers and subependymal nodules are noted. 1071, Nihon Toseki Igakkai Zasshi, Vol. 0000004736 00000 n Figure 5a. Tuberous sclerosis the majority being sporadic (85%) in an autosomal dominant fashion (15%). Cortical tubers in a 40-year-old woman. Coronal half-Fourier-acquisition single-shot turbo spin-echo (HASTE) MR image demonstrates bilateral loculated pleural effusion and ascites. The TSC2 gene consists of 41 exons and is distributed over 44 kbp of genomic DNA. (b) Unenhanced CT image at superior level to that in a reveals secondary hydrocephalus. CT image of the chest demonstrates multiple lung cysts, suggesting pulmonary LAM. The tumor was surgically proved to be leiomyoma of the jejunum.Download as PowerPointOpen in Image Cardiac rhabdomyomas usually (approximately 75%) occur before the age of 1 year and can even occur in a fetus. Radiographics. 2, SD, Revista Mèdica Internacional sobre la Síndrome de Down, Vol. Intestinal polyposis in a 33-year-old man. 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. xref Intestinal polyposis in a 33-year-old man. Umeoka S, et al. Umeoka S, Koyama T, Miki Y, et al. Figure 8. Figure 14a. (c) Selective left renal arteriogram shows multiple aneurysms in the tumor. 28 (7):e32. Thin-section CT can demonstrate characteristic features of pulmonary LAM and can obviate lung biopsy. Figure 12. Linkage analysis in multigenerational families and positional cloning were used to map these genes (,4,,5). 20, No. Viewer. Ruptured renal AML in a 35-year-old woman. Pulmonary LAM in a 29-year-old woman. Viewer. The proteins hamartin and tuberin interact with high affinity and coexist as a complex in cells in a variety of organs, including the kidneys, brain, lungs, and pancreas. Viewer. Figure 15b. 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). Although unenhanced CT with thin sections is useful for detecting small amounts of fat, intratumoral fat cannot be detected in approximately 4.5% of all renal AMLs (,49). 1 SEGA is the primary cause of morbidity and mortality in pediatric TSC patients.1 They are most commonly seen between 8 and 18 years of age 2. Tuberous sclerosis complex (TSC) is a genetic disorder characterized by the growth of dysgenic lesions in multiple organs including the brain, skin, kidney, heart, lungs, and retina. 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). (a, b) Contrast-enhanced CT images of different levels demonstrate multiple high-attenuation polypoid lesions (arrows) in the small intestine. Right renal AML is also seen. When intrarenal, perinephric, or retroperitoneal hemorrhage is seen, a ruptured AML should be suspected (,Fig 15,,). (b) Unenhanced CT image at superior level to that in a reveals secondary hydrocephalus.Download as PowerPointOpen in Image (a) Axial T2-weighted MR image depicts cortical tubers as hyperintense lesions (arrows). Recent advances in cytogenetics and pathophysiology have been made toward understanding the functions of the hamartin-tuberin complex (,9). Lancet. Viewer. (b) Contrast-enhanced CT image demonstrates an aneurysm in the tumor (arrow). Comprehensive Imaging Manifestations of Tuberous Sclerosis. The recently advocated criteria for diagnosis of TS consist of both major and minor diagnostic features (,Table 1). Figure 15c. Renal cysts in a 10-month-old girl. Shagreen patches are typically found as grayish-green or light brown areas in the lumbosacral region in 20%–30% of patients (,10). The tumours most often affect the brain, skin, kidneys, heart, eyes and lungs. J Nephrol 2019;32:355-63. The incidence is approximately one in 5000–10,000 births. Pulmonary LAM in a 37-year-old woman. Detection of these entities can be strong evidence for suspecting tuberous sclerosis. We sincerely acknowledge Kyo Itoh, MD, PhD, Toyomichi Shibata, MD, Chikara Maeda, MD, and Yo Kajiyama, MD, PhD, for their contributions of materials used in this review. It had been purported that there is a significant association between renal cel carcinomas and TS, since renal malignant tumors can occur in young patients with TS. �+f� �6��U�Ҡ,%�,�$�5 j%X�!f'H)�`�Q�g�� �8jU��|�_�9L���3�`�� �p�ݓ�����&N�YJҀ����dX�8�c�z/0�`f�d�B������P>'7^`�C$��זiV :=� x'"*qH�0�-���%��H3�� s�) The distribution of the tumors Y, Akai M, Tsutsui K tuberous sclerosis radiographics al! And chylous pleural effusions should be recognized that half of TS are known had quadriplegia... 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