Facial angiofibromas are present 75% of the time, seizures as much as 90% of the time, and mental retardation in approximately 50% of all patients . Patients with tuberous sclerosis need lifelong follow-up for monitoring and surveillance of potentially life-threatening complications. The splenic manifestations of tuberous sclerosis are hamartomas, which are exceedingly rare. Computed tomography (CT) and magnetic resonance (MR) imaging findings were reviewed in 26 patients with tuberous sclerosis. Renal Angiomyolipoma: Radiologic Classification and Imaging Features According to the Amount of Fat, Review. The female genital tract is rarely affected by LAM. The CT features included subependymal nodules in 25 of 26 patients (96%) and calcifications in 23 of 26 (88%). Another finding is sclerotic bone lesions, which can appear as collection of dense, compact bone within the medullary cavity of bone (5). Unenhanced CT shows multiple, calcified nodules in a periventricular, subependymal distribution bilaterally in dilated lateral ventricles, characteristic of tuberous sclerosis. Figure 2A: Axial CT image of abdomen with angiomyolipomas (orange arrows). Subependymal giant cell astrocytomas (SEGAs) are thought to arise from subependymal nodules and are slow-growing, enhancing lesions usually located at the foramen of Monro (Fig. Synonym: Bournveilles disease. These criteria were sorted by major and minor features, and a definite diagnosis was made when two major features or one major and two minor features were present. Radiology intrigued Amer following a back injury requiring him to get an MRI. B, T2-weighted fat-suppressed MR image shows decreased signal intensity throughout lesion (arrow); finding is diagnostic of lipid-rich angiomyolipoma. Tuberous sclerosis: Ultrasound, CT and MRI features of two cases with multiple organ involvement Australasian Radiology, Vol. This case is a young female with clinical presentation of intellectual retardation and adenoma sebaceum. Pictorial Review of Tuberous Sclerosis in Various Organs. A, Contrast-enhanced CT (A) and T1-weighted gradient-recalled echo in-phase (B) and opposed-phase (C) MR images show lipid-poor angiomyolipoma (arrow, A). MRI is also useful for the detection of the microscopic fat present in most angiomyolipomas. This case demonstrates typical features of tuberous sclerosis, and the diagnosis can be made with a high degree of certainty merely on imaging features. The chromophobe subtype frequently exhibits early weak enhancement and early washout . Figure 1. Epileptogenic tubers have an increased apparent diffusion coefficient . Larger lesions may have a low-attenuation central scar or necrosis (Fig. TSC affects cellular degeneration, proliferation, and migration and results in hamartomatous lesions in virtually all organs during early development—most commonly the brain, skin, eyes, heart, kidneys, and lungs. Given the complexity and variability of penetrance in tuberous sclerosis, a set of recommendations was proposed by a consensus conference in 2012 . On examination, adenoma sebaceum was found (and the CT was done at that time), yet the patient to date has no intellectual deficits. Fig. Based on a presentation at the ARRS 2013 Annual Meeting, Washington, DC. For this reason, epileptogenic lesions are often treated by surgical resection . CT demonstrates much better the extent of bilateral renal replacement and enlargement by the extensive AMLs. "Diagnosis of tuberous sclerosis complex." Angiomyolipomas (AML) are present in 80% of patients with tuberous sclerosis. Pictorial Review of Tuberous Sclerosis in Various Organs. 2B —Imaging findings of angiomyolipoma. High-resolution CT every 5–10 years was recommended for women at risk of lymphangioleiomyomatosis. "Tuberous sclerosis complex surveillance and management: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference." Subependymal nodules are present in more than 90% of patients and represent hamartomatous lesions lining the ventricles. A probable diagnosis was made when one major and one minor feature were present, and a possible diagnosis when one major or two or more minor features were present. N2 - Computed tomography (CT) and magnetic resonance (MR) imaging findings were reviewed in 26 patients with tuberous sclerosis. Asymptomatic patients with cardiac rhabdomyomas require follow-up echocardiogram every 1-3 years along with 12-lead ECG every 3-5 years to monitor for conduction defects. The majority of angiomyolipomas are sporadic (80%) and are typically identified in adults (mean age of presentation 43 years), with a female predilection (F:M of 2-4:1) 7,9. However, for the sake of completeness, the dermatologic manifestations, which are observed only at physical examination and prompt subsequent radiologic workup, must be understood. 50-90% will be found in the frontal lobes 1. MRI of Spinal Bone Marrow: Part 2, T1-Weighted Imaging-Based Differential Diagnosis, Pictorial Essay. Unenhanced CT image shows retroperitoneal hematoma (thick arrow) adjacent to ruptured lipid-rich angiomyolipoma (thin arrow) with associated anterior displacement of kidney. Their increased vascularity is due to intralesional red pulp. Evaluating the minority of angiomyolipomas that are lipid poor can also prove to be challenging at MRI because neither intralesional fat suppression nor peripheral India ink etching artifact is noticeable at the angiomyolipoma-kidney interface (Fig. Fig. What are the important findings seen on these CT images? A, Unenhanced CT image shows rounded lesion (arrow) that has fat attenuation. They most commonly occur in the cerebral white matter of the frontal lobes bilaterally and are characterized as thin straight lines of T2 hyperintensity and T1 isointensity to hypointensity coursing from the periventricular white matter to the cerebral cortex. 1B) when they have not yet calcified. In addition, tubers with the FDG PET finding of glucose hypometabolism in a large portion of their volume are suggestive of epileptogenic foci  (Fig. If symptomatic, these lesions are usually surgically resected. On the other hand, chemical-shift imaging (T1-weighted gradient-recalled echo opposed-phase sequence) shows an India ink etching artifact at the fat-water interface between a lipid-rich angiomyolipoma and normal renal parenchyma [42, 43] (Figs. Similarly, sirolimus and its analogues have been found to be effective in the treatment of dermatologic manifestations  of tuberous sclerosis as well as lymphangioleiomyomatosis [72, 73], RCC , and renal angiomyolipomas [75–78]. skin, eyes, and nervous system). 8B —38-year-old woman with hepatic manifestation of tuberous sclerosis. Serial CT scans have shown subependymal nodules growing into SEGAs . Coronal maximum-intensity-projection CT angiogram shows large aneurysm (arrow) arising from angiomyolipoma. They represent disorganized neurons and glial cells and are most commonly visualized in the frontal lobes with parietal, occipital, and temporal lobar occurrence in decreasing order of frequency . Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder. Fig. CT demonstrates much better the extent of bilateral renal replacement and enlargement by the extensive AMLs. 8D —38-year-old woman with hepatic manifestation of tuberous sclerosis. With a phenotype not unlike that of autosomal dominant polycystic kidney disease, renal cysts in this younger subset of tuberous sclerosis patients are multiple and anechoic at ultra-sound. Because of the relative conspicuity of calcium, CT is the preferred imaging modality for identifying subependymal nodules when an adult with undiagnosed tuberous sclerosis has subtle neurologic symptoms. 3C). Tuberous sclerosis–associated RCCs are predominantly clear cell RCCs , but papillary and chromophobe RCCs have also been reported in the literature. "Tuberous sclerosis complex: a review." Radiology 254.3 (2010): 851-857. doi: 10.1148/radiol.09090227. Approximately one third of cases of tuberous sclerosis are familial and caused by mutations in two tumor suppressor genes, TSC1 and TSC2. Fig. Figure 2D: Axial CT of brain with subependymal tubers (red arrows). We review the computed tomography (CT) and magnetic resonance (MR) features of the brain lesions in patients with tuberous sclerosis. They are rarely seen infratentorially. Tuberous sclerosis is an autosomal dominant neurocutaneous syndrome characterized by various abnormalities, including benign hamartomatous tumors in multiple organs. The CT findings in a patient with tuberous sclerosis are described with special emphasis upon the differential diagnosis. However, this patient also had multiple lipid-poor angiomyolipomas (thick arrows), yielding diagnosis of tuberous sclerosis. There, he has served as the President for the Medical Business Association and Secretary for the Radiology Interest Group. Handbook of clinical neurology. Patients can present with a variety of symptoms, ranging from seizures to acute abdomen with life-threatening hemorrhage. Most (70%) regress in childhood [58, 59], but those causing symptoms should be resected. Angiomyolipomas are present in 80% of patients with tuberous sclerosis . If either of these criteria is met, treatment consists of resection or embolization. Dr. Rice has made several media appearances as part of his ongoing commitment to public education. “Imaging of tuberous sclerosis complex: a pictorial review.” B, Contrast-enhanced CT (A) and T1-weighted gradient-recalled echo in-phase (B) and opposed-phase (C) MR images show lipid-poor angiomyolipoma (arrow, A). Introduction. TSC affects cellular degeneration, proliferation, and migration and results in hamartomatous lesions in virtually all organs during early development—most commonly the brain, skin, eyes, heart, kidneys, and lungs. These lesions rarely enhance, and they occur in more than 80% of patients with tuberous sclerosis . Conversely, only 5.8% of hepatic angiomyolipomas have been found to be associated with tuberous sclerosis . 4A —39-year-old woman with lipid-poor angiomyolipoma. Figures 2A and 2C demonstrate renal angiomyolipomas depicted with the orange arrows on CT. Fig. C, Contrast-enhanced CT (A) and T1-weighted gradient-recalled echo in-phase (B) and opposed-phase (C) MR images show lipid-poor angiomyolipoma (arrow, A). The CNS manifestations of tuberous sclerosis include subependymal nodules, cortical and subcortical tubers, cerebral white matter radial migration lines, and subependymal giant cell astrocytomas. 42, No. It is due to mutation in the genes TSC1 or TSC2. Tuberous sclerosis (TS), also known as tuberous sclerosis complex or Bourneville disease, is a neurocutaneous disorder (phakomatosis) characterised by the development of multiple benign tumours of the embryonic ectoderm (e.g. Cardiac rhabdomyomas can be solitary or multiple and present as a well-defined hyperechoic mass or masses on the ventricular septum at sonographic evaluation  (Fig. In 2015, Dr. Rice and Natalie Rice founded Global Radiology CME to provide innovative radiology education at exciting international destinations, with the world's foremost authorities in their field. A well-defined rounded contour deformity may be the only finding. This case is known for tuberous sclerosis on antiepileptic treatment presented for follow up. Although rare, association of tuberous sclerosis with pulmonary lymphangioleiomyomatosis (LAM) have been documented. Osseous manifestations are variable and consist of focal sclerotic lesions, bone cysts, and periosteal new bone formation. 6 —39-year-old woman with pulmonary manifestations of tuberous sclerosis. 4B —39-year-old woman with lipid-poor angiomyolipoma. However, the diagnosis of tuberous sclerosis can be made earlier or later on the basis of other features that manifest themselves at other ages (Table 1). Interestingly, the opposite pattern of signal intensity is observed in infants owing to the relative lack of myelination [2, 26]. “Transarterial embolization for renal angiomyolipomas: A single centre experience in 79 patients.” The Journal of international medical research vol. "Tuberous sclerosis." Hypomelanotic macules, also known as ash leaf spots, are the most common dermatologic finding and are present in more than 90% of patients with tuberous sclerosis . Epilepsy is often the most challenging aspect of symptomatic treatment of tuberous sclerosis, given that seizures in these patients are usually refractory to treatment . They are usually asymptomatic unless they occur as a contiguous mutation in TSC2 and PKD1 on chromosome 16 (present in 2–3% of patients) in which case the cysts have an early onset of development and cause hypertension or renal failure in early adulthood . MR spectroscopy may be helpful in differentiating SEGAs from subependymal nodules, given that SEGAs have been found to have a high choline-to-creatine ratio and low N-acetylaspartate–to–creatine ratio . The estimated prevalence ranges from one in 6000 to one in 12 000 (,1), and approximately two-thirds of the cases are sporadic (,2). The diagnosis is usually established on the basis of diagnostic criteria related to clinical and/or radiologic findings. Like renal angiomyolipomas, hepatic angiomyolipomas consist of intratumoral macroscopic fat, which appears echogenic on ultrasound images, has fat attenuation on CT images, and appears as decreased signal intensity on T1-weighted fat-suppressed MR images  (Fig. The majority of cases of tuberous sclerosis (approximately 2/3's) are sporadic, and an autosomal dominant inheritance pattern has been demonstrated in the remainder 4. These dermatologic manifestations are considered major criteria in the diagnosis of tuberous sclerosis and are typically the only manifestations of tuberous sclerosis that can be detected at physical examination. Cerebral white matter radial migration lines represent heterotopic glial and neuronal cells along the path of migration from the ventricle to the cerebral cortex and can occasionally be seen extending to cortical and subcortical tubers. For example, cortical tubers and cardiac rhabdomyomas are detected prenatally and in infancy, whereas renal, pulmonary, and osseous lesions are identified more commonly in adulthood . Figure 2B: Axial CT image with sclerotic bone lesions (green arrows). Sporadic angiomyolipomas are usually unilateral and solitary and occur in middle-aged women . Cortical and subcortical tubers occur in 90% of patients . TSC1 is located on chromosome 9q34 and encodes the protein hamartin . All patients underwent CT; 16 patients underwent both. The pulmonary manifestation of tuberous sclerosis is lymphangioleiomyomatosis, a proliferation of smooth muscle cells in the lymphatics accompanied by cystic changes in the lung parenchyma. 6). 5B). "CT of sclerotic bone lesions: imaging features differentiating tuberous sclerosis complex with lymphangioleiomyomatosis from sporadic lymphangioleiomymatosis." Patients with TSC are also at risk for lymphangioleiomyomatosis and should have a baseline high-resolution chest CT with assessment for symptoms of exertional dyspnea and shortness of breath (7). 42, No. The average age at diagnosis of RCC in tuberous sclerosis patients is 28 years, which is 25 years younger than in the general population . A majority of these lesions are benign and typically are bilateral and numerous per kidney. "Renal angiomyolipoma with tuberous sclerosis complex: How it differs from sporadic angiomyolipoma in both management and care." Fig. 4). At CT, most angiomyolipomas consist of macroscopic fat and measure less than −20 HU, which is pathognomonic of an angiomyolipoma (Fig. Fig. They may do a CT scan or MRI of the head to look for tumors in the brain. 2B). Fig. 45,2 (2017): 706-713. doi:10.1177/0300060516684251, Hatano, Takashi, and Shin Egawa. The female genital tract is rarely affected by LAM. Radiology 254.3 (2010): 851-857. doi:10.1148/radiol.09090227, Von Ranke, Felipe Mussi et al. Fig. There has been evidence of regression of SEGAs in patients who have undergone sirolimus therapy . Although they are almost exclusively encountered in the setting of tuberous sclerosis, case reports of isolated subependymal giant cell astrocytomas in individuals with no other stigmata of tuberous sclerosis are available 9. Cortical tubers and most CNS manifestations of tuberous sclerosis are best demonstrated on MRI. Tubers typically have a triangular configuration with the apex pointing toward the ventricle. There are two forms of lymphangioleiomyomatosis: sporadic and associated with tuberous sclerosis. Tuberous sclerosis complex–associated lymphangioleiomyomatosis in a 34-year-old woman. How is tuberous sclerosis diagnosed? White matter changes are also noted, manifested with multiple subcortical white matter hypodensities and a cystic lesion (cystoid degeneration). 50,1 (2017): 48-54. doi:10.1590/0100-3984.2016.0020, Krueger, Darcy A., et al. These nodules are commonly observed in the anterior aspects of the lateral ventricles (4). In addition, subependymal tubers are found in TSC. Lymphangioleiomyomatosis exists in as many as 26–39% of women with tuberous sclerosis . Hamartin and tuberin interact to form heterodimers, which inhibit the mammalian target of rapamycin (mTOR)-signaling cascade, which is responsible for regulating cell growth and differentiation . Classically, TS demonstrates a triad of clinical features (Vogt triad): mental retardation, epilepsy, and adenoma sebaceum. Fig. ... As many as 40% of women with tuberous sclerosis have pulmonary cysts on chest CT scan. 1C —CNS manifestations of tuberous sclerosis. The sporadic form predominates (85% of all cases) and occurs almost exclusively in women. Unenhanced CT shows multiple, calcified nodules in a periventricular, subependymal distribution bilaterally in dilated lateral ventricles, characteristic of tuberous sclerosis. Tuberous Sclerosis. Lymphangioleiomyomatosis can be observed as multiple thin-walled cysts scattered diffusely and surrounded by normal lung parenchyma  (Fig. Figure 2B isolates two areas of sclerotic bone lesions indicated by the green arrows. 3B —64-year-old woman with renal manifestations of tuberous sclerosis. They are principally diagnosed in patients under 20 years of age, only occasionally found in older individuals. Finding is diagnostic of lipid-rich angiomyolipoma. In nonsurgical patients, the mTOR pathway inhibitors sirolimus and everolimus have been found to decrease the size of SEGAs with subsequent relief of symptoms . D, 2-year-old boy. 2C —Imaging findings of angiomyolipoma. Brain surveillance by MRI is recommended every 1-3 years in individuals with TSC under 25 years of age and should be continued for life if the patient develops a subependymal giant astrocytoma to assess its progression (7). The remainder of angiomyolipomas are sporadic (nontuberous sclerosis). 7A). skin, eyes, and nervous system). Signs and symptoms vary widely, depending on where the growths develop and how severely a person is affected.Tuberous sclerosis is often detected during infancy or childhood. In figure 2D, we can appreciate the subependymal tubers indicated by the red arrows. The presence of multiple bilateral subependymal nodular nonenhancing hyperdense calcified lesions is relatively characteristic of tuberous sclerosis when combined with the appropriate clinical findings. Tuberous sclerosis complex–associated lymphangioleiomyomatosis in a 34-year-old woman. Although cysts may be seen in childhood or adolescence, symptoms typically present in the 40s and occur as dyspnea, cough, or hemoptysis. Some characteristic findings that are appreciable on imaging include angiomyolipomas, cysts, sclerotic bone lesions, and subependymal tubers. Address correspondence to S. B. Manoukian (, Comprehensive Imaging Manifestations of Tuberous Sclerosis, Review. The patterns of CT attenuation and homogeneity depend on the subtype, microvessel density, and presence of intratumoral necrosis or hemorrhage. At MRI, splenic hamartomas are typically hypointense on T1-weighted and hyperintense on T2-weighted images . Also known as Bourneville disease, named after Désiré-Magloire Bourneville, the French physician who discovered the potatolike appearance of cortical lesions in the brains of patients with this condition , tuberous sclerosis is the second most common phakomatosis behind neurofibromatosis type 1. Axial contrast-enhanced CT image shows mass (arrow) is predominantly isoattenuating to spleen and has central vascularity. Avila, Nilo A., et al. Fig. Renal angiomyolipomas occur in about 75 to 80% of patients over the age of 10 years (4). Echocardiography every 1–3 years was recommended for pediatric patients to monitor regression or stability of cardiac rhabdomyomas. B, T1-weighted opposed-phase GRE image shows peripheral India ink etching artifact (white arrow) at fat-water interface between mass and surrounding normal renal parenchyma. Patients present with seizures, varying degrees of mental retardation, and even autism . 1D). An easy diagnosis if one is aware of the entity. Fig. Rheumatology. Radiology. India ink etching artifact (arrow, C) is present surrounding mass and kidney but not at the mass-kidney interface. 5B —High-risk renal angiomyolipomas. These manifestations are the most common cause of morbidity and mortality in tuberous sclerosis. Several studies have shown promising results regarding the use of the mTOR inhibitor sirolimus in both animal and human models. Dr. Rice is a radiologist with Renaissance Imaging Medical Associates and is currently the Vice Chief of Staff at Valley Presbyterian Hospital in Los Angeles, California. This patient has characteristic and near pathognomonic features of tuberous sclerosis. Cystic Hepatic Lesions: A Review and an Algorithmic Approach, Review. Fig. 1C). However, the term may be a misnomer because the triad of facial angiofibromas, seizures, and mental retardation is observed in only 30–40% of patients . Cortical tubers and subependymal nodules are noted. 1B). International CME for Today's Radiologist, Skin lesions and kidney masses • Xray of the Week. (A) Posteroanterior chest radiograph shows a moderate-sized right pneumothorax (arrow).There is a fine reticular pattern most prominent in the lower zones. Those articles suggest that hepatic angiomyolipomas larger than 4 cm be followed closely or excised because of their potential for rupture. D, T1-weighted gradient-recalled echo in-phase (C) and opposed-phase (D) MR images show area of homogeneous high signal intensity (arrow, C) of fat with India ink etching artifact (arrowhead, D) at interface between lipid-rich angiomyolipoma and normal liver parenchyma. Definitive diagnosis is defined as the presence of at least two more major features, or one major and two minor features (6). "Minnie" Award for the Most Effective Radiology Educator. Chest CT image shows diffuse distribution of multiple thin-walled cysts surrounded by normal lung parenchyma, consistent with lymphangioleiomyomatosis. Pediatric neurology 49.4 (2013): 255-265. doi:10.1016/j.pediatrneurol.2013.08.002, Wang, Chengen et al. 8A —38-year-old woman with hepatic manifestation of tuberous sclerosis. For asymptomatic growing renal angiomyolipomas measuring greater than 3 cm in diameter, first-line treatment consists of mTOR inhibitors (7). Ungual fibromas are small fleshy tumors occurring under fingernails or toenails and are present in approximately 20% of tuberous sclerosis patients . Diagnosis of TSC can be achieved with genetic analysis, however, it may not identify a mutation in up to 25% of patients (6). Fig. TS can affect both sexes and all ethnic groups. Fig. "The tuberous sclerosis complex." Tuberous Sclerosis Reviewed by Sumer Sethi on Monday, November 23, 2009 Rating: 5 Tuberous sclerosis–associated RCCs are predominantly clear cell RCCs , but papillary and chromophobe RCCs have also been reported in the literature. Renal cysts are usually multiple in tuberous sclerosis and are the second most common renal manifestation of tuberous sclerosis. A distinguishing ultra-sound feature is that 30% of angiomyolipomas exhibit posterior acoustic shadowing. 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