They are principally diagnosed in patients under 20 years of age, only occasionally found in older individuals. Tuberous sclerosis is usually diagnosed in infancy or early childhood because a child presents with seizures, developmental delay, or hypomelanotic macules. Dr. Rice's passion for state of the art radiology and teaching includes acting as a guest lecturer at UCLA. 4C —39-year-old woman with lipid-poor angiomyolipoma. This patient has characteristic and near pathognomonic features of tuberous sclerosis. The presence of multiple bilateral subependymal nodular nonenhancing hyperdense calcified lesions is relatively characteristic of tuberous sclerosis when combined with the appropriate clinical findings. Tumors smaller than 4 cm are followed conservatively. 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. 5A —High-risk renal angiomyolipomas. Fig. Cystic Hepatic Lesions: A Review and an Algorithmic Approach, Review. At CT, most angiomyolipomas consist of macroscopic fat and measure less than −20 HU, which is pathognomonic of an angiomyolipoma (Fig. The imaging workup of angiomyolipomas includes ultrasound, CT, and MRI. SEGAs cause obstructive hydrocephalus because of their size and location [34, 35]. 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. However, patients can present with flank pain, hematuria, hemorrhage, or a tender abdominal mass. The primary cardiac manifestation of tuberous sclerosis is cardiac rhabdomyomas. Tuberous sclerosis complex–associated lymphangioleiomyomatosis in a 34-year-old woman. Tuberous sclerosis complex (TSC) is an autosomal-dominant disorder. Bone cysts are most commonly visualized in the phalanges of the hands and feet [68]. Coronal contrast-enhanced CT image shows cystic RCC (arrowhead). 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. Address correspondence to S. B. Manoukian (, Comprehensive Imaging Manifestations of Tuberous Sclerosis, Review. 5A) of angiomyolipomas larger than 4 cm and aneurysms larger than 5 mm occurring within these tumors [46] (Fig. 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 [1], tuberous sclerosis is the second most common phakomatosis behind neurofibromatosis type 1. Interestingly, the opposite pattern of signal intensity is observed in infants owing to the relative lack of myelination [2, 26]. Therefore, lipid-poor angiomyolipomas cannot be reliably differentiated from RCC and other renal tumors, such as oncocytomas. 2C). Renal angiomyolipomas occur in about 75 to 80% of patients over the age of 10 years (4). B, T2-weighted fat-suppressed MR image shows decreased signal intensity throughout lesion (arrow); finding is diagnostic of lipid-rich angiomyolipoma. Tuberous sclerosis complex (TSC) is an inheritable multiorgan disease. 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. Clear cell carcinomas are hypervascular and typically exhibit heterogeneous early enhancement and early washout. A distinguishing ultra-sound feature is that 30% of angiomyolipomas exhibit posterior acoustic shadowing. OBJECTIVE. 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). These lesions rarely enhance, and they occur in more than 80% of patients with tuberous sclerosis [26]. Fig. Most (70%) regress in childhood [58, 59], but those causing symptoms should be resected. Although rare, association of tuberous sclerosis with pulmonary lymphangioleiomyomatosis (LAM) have been documented. For cysts identified at high-resolution CT, annual pulmonary function testing was recommended to evaluate for disease progression. Tuberous sclerosis is an autosomal dominant neurocutaneous syndrome characterized by various abnormalities, including benign hamartomatous tumors in multiple organs. Shagreen patches usually present as areas of thick leathery skin with a pebbly texture in the lumbosacral region and are observed approximately 50% of the time [19]. ... As many as 40% of women with tuberous sclerosis have pulmonary cysts on chest CT scan. India ink etching artifact (arrow, C) is present surrounding mass and kidney but not at the mass-kidney interface. (A) Posteroanterior chest radiograph shows a moderate-sized right pneumothorax (arrow).There is a fine reticular pattern most prominent in the lower zones. The tuberous sclerosis–associated form also has a female predominance, and women are more severely affected by the disease than are men. However, the volume of angiomyolipomas increased after discontinuation of therapy. The CT features included subependymal nodules in 25 of 26 patients (96%) and calcifications in 23 of 26 (88%). 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 [15]. (A) Posteroanterior chest radiograph shows a moderate-sized right pneumothorax (arrow).There is a fine reticular pattern most prominent in the lower zones. This leads to the use of clinical diagnostic criteria, which is separated into major and minor features. "Diagnosis of tuberous sclerosis complex." Although rarely symptomatic, cardiac rhabdomyomas have been known to cause fatal arrhythmias, valvular dysfunction, and outflow obstruction [57]. The diagnosis is usually established on the basis of diagnostic criteria related to clinical and/or radiologic findings. Synonym: Bournveilles disease. Fig. Small angiomyolipomas are usually homogeneously hyperechoic at ultrasound, but larger angiomyolipomas may have a more heterogeneous appearance (Fig. A, T1-weighted in-phase gradient-recalled echo (GRE) MR image shows hyperintense right renal mass (arrow). 8A —38-year-old woman with hepatic manifestation of tuberous sclerosis. Hepatic angiomyolipomas are the most common hepatic manifestation of tuberous sclerosis. 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. Thus, radiology plays an essential role as part of the multidisciplinary team in the surveillance and management of tuberous sclerosis complex. Pediatric neurology 49.4 (2013): 255-265. doi:10.1016/j.pediatrneurol.2013.08.002, Wang, Chengen et al. Angiomyolipomas due to tuberous sclerosis typically occur in younger patients and are frequently multiple and bilateral [38]. Renal cysts are usually multiple in tuberous sclerosis and are the second most common renal manifestation of tuberous sclerosis. 2A). The renal manifestations of tuberous sclerosis include angiomyolipomas, renal cysts, and renal cell carcinoma (RCC). Studies have shown a direct correlation between the number of tubers and neurologic symptoms and cognitive impairment [24, 25]. Fig. Fig. FDG PET image shows areas of glucose hypometabolism (arrows) corresponding to epileptogenic tubers, which were subsequently resected. 3C). Coronal contrast-enhanced MR image obtained after tuber resection shows avidly enhancing subependymal giant cell astrocytoma in left lateral ventricle at foramen of Monro (circle) with associated mild hydrocephalus. CT brain reveals characterstic subependymal nodules and CT chest shows lung cysts. The CT findings in a patient with tuberous sclerosis are described with special emphasis upon the differential diagnosis. In figure 2D, we can appreciate the subependymal tubers indicated by the red arrows. The mortality rate is as high as 40% by the age of 35 years. Purpose: To retrospectively compare the frequencies of computed tomographic (CT) findings in patients with lymphangioleiomyomatosis (LAM) and patients with tuberous sclerosis complex (TSC) and LAM. Incidence of RCC in tuberous sclerosis patients is similar to that in general population, but age at onset is much earlier as in this patient's case. Tuberous sclerosis for the Radiologist . CT demonstrates much better the extent of bilateral renal replacement and enlargement by the extensive AMLs. 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 [33]. Another finding is sclerotic bone lesions, which can appear as collection of dense, compact bone within the medullary cavity of bone (5). Lymphatic involvement may cause enlarged thoracic or abdominopelvic lymph nodes. The recommendation was made to perform annual detailed dermatologic and ophthalmologic examinations of patients with known lesions. Epileptogenic tubers have an increased apparent diffusion coefficient [30]. 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. Given the complexity and variability of penetrance in tuberous sclerosis, a set of recommendations was proposed by a consensus conference in 2012 [69]. Subependymal nodules are present in more than 90% of patients and represent hamartomatous lesions lining the ventricles. 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). 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. 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