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Radiology > MULTISYSTEM
Tuberous Sclerosis
Article Last Updated: Dec 1, 2005
AUTHOR AND EDITOR INFORMATION
Section 1 of 13  
Author: Bennett Greenspan, MD, Chief of Abdominal Imaging, Assistant Professor, Department of Radiology, University of Missouri Health Science Center
Bennett Greenspan is a member of the following medical societies: American College of Nuclear Medicine, American College of Nuclear Physicians, American College of Radiology, American Medical Association, Radiological Society of North America, Sigma Xi, and Society of Nuclear Medicine
Coauthor(s):
L Keith Jordan, MD, Consulting Staff, Radiology Associates PA;
Charles M Glasier, MD, Professor, Departments of Radiology and Pediatrics, University of Arkansas for Medical Sciences; Chief, Magnetic Resonance Imaging, Vice-Chief, Pediatric Radiology, Arkansas Children's Hospital
Editors: Charles M Glasier, MD, Professor, Departments of Radiology and Pediatrics, University of Arkansas for Medical Sciences; Chief, Magnetic Resonance Imaging, Vice-Chief, Pediatric Radiology, Arkansas Children's Hospital; Bernard D Coombs, MB, ChB, PhD, Consulting Staff, Department of Specialist Rehabilitation Services, Hutt Valley District Health Board, New Zealand; Eric J Stern, MD, Director of Thoracic Imaging, Professor of Radiology and Medicine, Departments of Radiology and Internal Medicine, Harborview Medical Center, University of Washington School of Medicine; Robert M Krasny, MD, Consulting Staff, Department of Radiology, The Angeles Clinic and Research Institute; James G Smirniotopoulos, MD, Professor of Radiology, Neurology, and Biomedical Informatics, Chairman, Department of Radiology and Radiological Sciences, Uniformed Services University of the Health Sciences
Author and Editor Disclosure
Synonyms and related keywords:
Bourneville disease, Pringle's disease, Pringle disease, facial angiofibroma, papular facial nevus, adenoma sebaceumtuberous sclerosis complex, TSC
Background
Genetics
Tuberous sclerosis is an autosomal-dominant disorder. Approximately 50% of cases are inherited and 50% are sporadic, although the incidence of sporadic cases may be as high as 80%. Penetrance is believed to be high. The expression is variable. The severity of the disease appears to reflect the variable penetrance. Substantial genetic inhomogeneity exists. A gene locus on chromosome 9 has been found; however, a minimum of 1 or 2 other loci may be located elsewhere. Probably, at least 1 locus is located on chromosome 11 and/or chromosome 16.
Clinical appearance
Manifestations of tuberous sclerosis can become apparent in persons of any age, but most patients have clinical symptoms before they are aged 10 years. The classic form of the disease is the triad of seizures, mental retardation, and adenoma sebaceum, which is a papular facial nevus more accurately termed facial angiofibroma. This classic appearance occurs in less than half of patients, probably in one third.
Abnormal radiologic findings are important in diagnosing this disease and include CNS lesions of cortical hamartomas, white matter abnormalities, and subependymal nodules (ie, hamartomas). Patients also have subependymal giant cell astrocytomas. These intracranial neoplasms can result in obstructive hydrocephalus. Retinal lesions, nonatheromatous vascular stenoses and aneurysms, and mild ventricular enlargement without astrocytomas can be present.
Tuberous sclerosis is a multisystemic disorder. Non-CNS lesions of tuberous sclerosis include cutaneous manifestations. In addition to the lesions mentioned above, these include vitiligo and subungual patches. Findings also are observed in the heart; lungs; kidneys; skeleton; and, occasionally, liver, spleen, and pancreas.
Diagnostic criteria
The Mayo Clinic has developed a more inclusive set of diagnostic criteria. The established definitive criteria include facial angiofibromas, ungual fibromas, retinal hamartomas (phakomas), cortical tubers, subependymal nodules, and multiple renal angiomyolipomas; only 1 must be present for the diagnosis to be made. Presumptive criteria also have been developed; of these, a minimum of 2 must be present because these findings can occur without tuberous sclerosis. The presumptive criteria include cutaneous findings of hypomelanotic nodules or shagreen patches, renal findings of a single angiomyolipoma or multicystic kidney, lung findings of pulmonary lymphangioleiomyomatosis (LAM) or radiographic honeycomb lung, cardiac rhabdomyoma, and a first-degree relative with tuberous sclerosis.
Comprehensive diagnostic criteria have recently been revised as a consensus statement from the Diagnostic Criteria Committee of the National Tuberous Sclerosis Association.The following are major features:
- Facial angiofibromas or forehead plaque
- Nontraumatic ungual or periungual fibroma
- Hypomelanotic macules (>3)
- Shagreen patch (connective-tissue nevus)
- Multiple retinal nodular hamartomas
- Cortical tuber
- Subependymal nodule
- Subependymal giant cell astrocytoma
- Cardiac rhabdomyoma, single or multiple
- Lymphangioleiomyomatosis
- Renal angiomyolipoma
When both lymphangioleiomyomatosis and renal angiomyolipoma are present, other features of tuberous sclerosis should be present before a definite diagnosis is made.
The following are minor features:
- Multiple randomly distributed pits in dental enamel
- Hamartomatous rectal polyps
- Bone cysts (radiographic confirmation is sufficient)
- Cerebral white matter radial migration lines
- Gingival fibromas
- Nonrenal hamartomas
- Retinal achromic patches
- "Confetti" skin lesions
- Multiple renal cysts
Diagnostic criteria are as follows:
- Definite - Two major features or 1 major feature plus 2 minor features
- Probable - One major feature plus 1 minor feature
- Possible - One major feature or 2 or more minor features
Pathophysiology
Tuberous sclerosis is a multisystemic disease.
The pathogenesis of the CNS lesions is not certain, but is believed to be associated with disordered migration of abnormal or dysgenetic neurons along abnormal glial fibers. Intracranial lesions are classified into 4 major categories as follows:
- Cortical tubers: These are considered to be hamartomas.
- White matter abnormalities
- Subependymal nodules: These also are considered to be hamartomas. Periventricular subependymal nodules usually are present at birth and can range from 2-25 mm. Their tendency to become calcified increases with the patient's age.
- Subependymal giant cell astrocytomas: These usually occur at the foramina of Monro and are associated with obstructive hydrocephalus. These lesions are uncommon in infants and most common in adolescents.
Microscopic examination reveals giant cell clusters with varying degrees of neuronal and astrocytic differentiation of all 4 of the CNS lesions described above.
Renal lesions include cysts and angiomyolipomas. Renal cysts typically are multiple and bilateral. Angiomyolipomas, which are considered hamartomas, are benign lesions that contain varying amounts of smooth muscle, blood vessels, and mature adipose tissue. Usually, a significant amount of lipid is present. These lesions can enlarge over time.
Thoracic manifestations include cardiac rhabdomyomas, which often are present at birth. Pulmonary manifestations typically are present late in the disease. These produce cystic changes that are characterized by interstitial smooth muscle proliferation, which can result in interstitial thickening; alveolar destruction; and, eventually, chronic fibrosis or honeycomb lung, with complications of pneumothorax, pulmonary hypertension, and cor pulmonale. These abnormalities can be clinically indistinguishable from LAM.
Frequency
United States
The prevalence in the United States is 1 case per 10,000-150,000 persons.
Mortality/Morbidity
Mortality can result from obstructive hydrocephalus caused by the development of subependymal giant cell astrocytomas.
Cardiac rhabdomyoma is a rare lesion, but 50% of these tumors occur in patients with tuberous sclerosis. Cardiac rhabdomyoma may be fatal in infants. Other morbidities are related to the type of lesion or disease present.
- Morbidity in CNS lesions: Seizures are a fairly common clinical manifestation and occur in most patients with tuberous sclerosis. Infantile spasms are a type of seizure that frequently occurs in babies with tuberous sclerosis. Mental impairment or retardation occurs in a substantial number of patients. Although histologically benign, giant cell astrocytomas typically cause obstructive hydrocephalus. These tumors may be locally aggressive because of rapid growth and an associated mass effect. Hemorrhage may occur within the tumor, causing rapid enlargement.
- Morbidity in renal lesions: Multiple cysts or angiomyolipomas can cause hypertension. Bleeding, especially from angiomyolipomas, can occur and cause flank pain. Severe renal involvement may result in renal failure, which may necessitate dialysis.
- Morbidity in cardiopulmonary disease: One or more cardiac rhabdomyomas may develop. These tumors can interfere with both electrical conduction and muscular contraction and can result in congestive heart failure. In the lungs, cystic and interstitial changes can occur; these changes may be indistinguishable from those of LAM. Also, these changes can result in spontaneous pneumothorax in as many as 50% of patients with pulmonary involvement. Patients also may have pulmonary hypertension, cor pulmonale, end-stage fibrosis, or honeycomb lung.
Race
No racial predilection is reported.
Sex
No predilection is noted for either sex.
Age
Patients often have seizures in infancy or childhood. Patients who have seizures before they are aged 5 years are more likely to have mental retardation than other patients. Most patients have clinical symptoms before they are aged 10 years.
Anatomy
Alterations in the brain anatomy can occur as a result of cortical tubers, white matter lesions, or subependymal nodules. Development of subependymal giant cell astrocytomas may result in hydrocephalus.
Renal lesions, both cysts and angiomyolipomas, can distort the renal collecting systems or cause renal enlargement.
Cardiac rhabdomyomas can cause enlargement or other abnormalities of the heart.
Pulmonary disease can cause cystic and interstitial changes, which can result in alveolar destruction and end-stage fibrosis.
Orbital lesions, such as retinal hamartomas or phakomas, commonly become calcified and may produce a white retinal light reflection termed leukokoria, a common sign in retinoblastoma.
Several skeletal lesions can cause anatomic changes. Ungual angiofibromas cause erosion of the tufts of the distal phalanges. Periosteal thickening generally occurs in the metacarpals and metatarsals, but it can also occur in the long bones. Bone islands are also observed.
Clinical Details
Manifestations of tuberous sclerosis can become apparent in persons of any age, but most patients have clinical symptoms before they are aged 10 years. The severity of the disease appears to reflect the variable penetrance. The classic form of the disease is the triad of seizures; mental retardation; and adenoma sebaceum, which is a papular facial nevus more accurately termed facial angiofibroma. This classic appearance occurs in less than half the patients, probably in one third.
Seizures occur in most patients. Mental impairment or retardation can be observed in 40-82% of patients, and in almost all patients with seizures, the seizures begin before the patient is aged 2 years.
Renal cystic disease may appear as bilateral flank masses. Severe renal involvement may result in renal failure in patients aged 10-30 years. Patients may present with flank pain or hematuria resulting from hemorrhage within an angiomyolipoma or a perinephric area.
Hypertension may develop as a result of renal disease.
Preferred Examination
CT and MRI of the brain are the most sensitive screening imaging studies. Currently, MRI is considered the modality of choice for the evaluation of the brain in patients with diagnosed or suspected tuberous sclerosis. CT is the modality of choice for evaluating renal lesions because of its ability to delineate cystic lesions and lipid-containing angiomyolipomas.
Limitations of Techniques
CT is much less sensitive than MRI in the identification of cortical hamartomas and neuronal migration streaks. MRI is less sensitive than CT in the identification of calcifications of the brain. CT cannot be used to differentiate non–lipid-containing angiomyolipomas from other renal tumors.
Angiomyolipoma, Kidney
Autosomal Dominant Polycystic Kidney Disease
Autosomal Recessive Polycystic Kidney Disease
Lymphangioleiomyomatosis
Other Problems to be Considered
Giant cell astrocytoma
Rhabdomyoma
Epilepsy in patients with mental retardation
Findings
Abnormal radiologic findings are important in diagnosing this disease and include CNS lesions of cortical hamartomas, white matter abnormalities, and subependymal nodules (ie, hamartomas).
Most findings detectable on plain radiographs are musculoskeletal or thoracic. One half of the patients with tuberous sclerosis have musculoskeletal lesions. Changes include osteoporosis and cystic defects in the metacarpals, metatarsals, and/or phalanges. Erosions of the tufts of the distal phalanges, the result of ungual angiofibromas, may be observed. A periosteal reaction is observed in tubular bone; some authors characterize this reaction as having an undulating appearance. Heterogeneous sclerosis can affect the entire axial skeleton. Multiple bone islands with an apparent natural propensity for the diploic space may be observed. Macrodactyly and expansile-enhanced bone density that is restricted to a single rib are described. Plain skull films often reveal sclerosis or widening of the diploic space, which is related to the administration of phenytoin.
Chest radiographs rarely can depict evidence of interstitial fibrosis or honeycombing. Occasionally, the appearance of the chest is compatible with its appearance in LAM. The connection between tuberous sclerosis and LAM is unclear. Pneumothorax is an infrequent complication in interstitial fibrosis and LAM. Approximately one fourth of patients can have cardiac rhabdomyomas, which places these patients at risk for congestive heart failure.
Renal angiomyolipomas occur in 50-90% of patients but only rarely contain enough adipose tissue to be observed on plain radiographs. Findings on excretory urograms or retrograde pyelograms can vary widely, depending on the number and size of cysts or angiomyolipomas. These findings include bilateral renal enlargement or distortion of the collecting systems caused by cysts or angiomyolipomas. Hamartomatous polyps can be present in the colon. Gastric polyposis also can occur; this can be depicted on barium studies.
Specificity with respect to plain radiographic findings in patients with tuberous sclerosis is problematic because many of these lesions occur in other conditions; however, conventional radiographic findings often support the diagnosis of tuberous sclerosis.
Degree of Confidence
Occasionally, plain radiographs depict lucencies caused by fat in the angiomyolipoma; this finding can suggest the diagnosis of tuberous sclerosis. Distortion of the renal collecting system as a result of multiple cystic lesions may be indistinguishable from findings in autosomal dominant polycystic kidney disease.
False Positives/Negatives
Findings on excretory urograms and retrograde pyelograms can include bilateral renal enlargement or distortion of the collecting system; these can mimic the findings in autosomal-dominant polycystic kidney disease.
Findings
Overall, CT reveals intracranial abnormalities in 85% of patients with tuberous sclerosis. Frequently, CT can depict extracranial manifestations of tuberous sclerosis.
CT readily depicts calcified cortical tubers and calcified subependymal nodules; the frequency of their calcification increases with patient age. According to one author, more than 80% of the lesions can become calcified. Cortical tubers are often seen as low-attenuating peripheral lesions on CT scans; these are more easily identified with MRI.
Subependymal nodules are found mostly along the lateral ventricles. They may appear as localized projections into the ventricular cavity. These nodules may enhance after the intravenous administration of contrast material, although contrast enhancement is more difficult to recognize on CT scans than on other images, particularly in calcified lesions. Contrast enhancement does not imply malignant transformation.
In 10-15% of patients, subependymal nodules may transform into giant cell astrocytomas. These tumors are benign and usually occur at or near the foramen of Monro. These lesions typically appear inhomogeneous and usually have an inhomogeneous enhancement pattern after the intravenous administration of contrast material. They frequently are calcified, usually enlarge over time, and commonly cause obstructive hydrocephalus.
Angiomyolipomas often have low attenuation values if they contain sufficient fat, but they are indistinguishable from other renal tumors if they contain little or no lipid. Varying amounts of nonlipid tissue and hemorrhage can be visualized on CT scans of angiomyolipomas. Generally, calcification is not seen in angiomyolipomas.
Cystic lesions commonly occur in this disease, and they are well characterized at CT. However, cystic lesions are indistinguishable from simple cysts, including those with well-defined walls, and they have attenuation similar to that of fluid and mural calcification. Multiple cysts can distort the renal collecting system; with this finding alone, tuberous sclerosis is indistinguishable from polycystic kidney disease.
CT reveals the cystic and interstitial changes in the lungs of patients with tuberous sclerosis. Abnormal findings include interstitial thickening, alveolar destruction, and honeycomb lung; these are pathologically indistinguishable from those in LAM. Some authors consider LAM to be a forme fruste of tuberous sclerosis.
Degree of Confidence
The cortical tubers seen on CT may be somewhat nonspecific if they are not calcified. The lesions can be isoattenuating on CT scans and therefore escape detection.
In the neonate, periventricular calcifications are usually secondary to toxoplasmosis, other, rubella, cytomegalovirus, and herpes simplex (TORCH) infection rather than tuberous sclerosis.
The appearance of cystic lesions in tuberous sclerosis can be indistinguishable from that of simple cysts or polycystic kidney disease; however, the presence of 1 or more simple cysts in tuberous sclerosis without angiomyolipomas is rare.
False Positives/Negatives
In tuberous sclerosis, renal cysts are identical to simple cysts on CT scans. The presence of multiple cysts can distort the renal collecting system, and they can be indistinguishable from those of polycystic kidney disease, including those with smooth walls. These cysts also have attenuation levels in the range of that of fluid and mural calcification.
Angiomyolipomas with minimal or no fat can mimic other lesions on CT scans.
Findings
MRI is the imaging modality of choice for evaluating intracranial lesions of tuberous sclerosis. Cortical tubers, or hamartomas, are the most characteristic lesions of tuberous sclerosis; they are detected on MRIs in 95% of patients. The appearance of cortical tubers on MRIs varies with patient age. In neonates and young children, the cortical tubers and subependymal nodules are hyperintense on T1-weighted images and hypointense on T2-weighted images. In older children and adults, the cortical and subependymal lesions are isointense or hypointense on T1-weighted images. They are hyperintense relative to gray matter, as well as white matter, on T2-weighted images, depending on the presence of calcification.
Enhancement of cortical and subcortical lesions is uncommon and occurs in fewer than 5% of the cases. When enhancement is present, it does not suggest neoplasia. Enhancement of subependymal nodules is common, and it is better visualized on MRIs than on CT scans.
MRIs depict several distinct patterns of white matter lesions, including straight or curvilinear radial cerebral bands, wedge-shaped abnormalities, nonspecific conglomerate lesions, and cerebellar radial bands. White matter lesions in older children and adults typically are isointense or hypointense on T1-weighted images compared with white matter and hyperintense on T2-weighted images compared with gray matter and white matter. A small percentage of white matter lesions enhance after the administration of contrast material.
Subependymal nodules are detected in 95% of patients. Subependymal giant cell astrocytomas appear inhomogeneous, with intense enhancement after the administration of contrast material. The fat in angiomyolipomas usually can be recognized; however, MRI has no specific advantage in its depiction compared with CT.
Degree of Confidence
The inability of MRI to definitively depict calcification does not undermine its diagnostic accuracy because MRI can delineate cortical tubers, white matter lesions, subependymal nodules, and subependymal giant cell astrocytomas.
Findings
Hamartoma of the kidney, which has the histologic features of an angiomyolipoma, is one of the primary manifestations of renal involvement. Hamartomas contain varying amounts of mature adipose tissue, smooth muscle, and blood vessels and usually develop in young adults and enlarge slowly. Usually, hamartomas are asymptomatic; however, they can cause flank pain, hematuria, or an abdominal mass, which may be palpable. Hamartomas usually are multiple and bilateral. Malignant degeneration of hamartomas into renal cell carcinoma can occur, but this change appears to be rare. On sonograms, the lesions are highly echogenic because of their high fat content. A finding of multiple angiomyolipomas with a high fat content is highly suggestive of tuberous sclerosis.
Angiomyolipomas can bleed and cause renal parenchymal hemorrhage, as well as subcapsular or retroperitoneal hemorrhage. Renal cysts are another primary manifestation of renal involvement. Cysts almost always are multiple; typically, they are bilateral. On sonograms, cysts are anechoic and may be indistinguishable from findings in autosomal dominant polycystic kidney disease. The kidneys may be enlarged.
Degree of Confidence
Multiple angiomyolipomas in patients of either sex or an angiomyolipoma in a male patient is suggestive of tuberous sclerosis and indicates the need for further workup. Sporadic angiomyolipomas can be unrelated to tuberous sclerosis. These usually are solitary and occur in middle-aged women.
Angiomyolipomas usually are intensely hyperechoic on sonograms, but they may be difficult to distinguish from renal cell carcinoma, which also can be hyperechoic. Rarely, a renal cell carcinoma may contain some fat.
False Positives/Negatives
Cystic lesions of tuberous sclerosis may mimic simple renal cysts, as well as the cysts of autosomal-dominant polycystic kidney disease.
Findings
Nuclear medicine studies may have a minor role in the assessment of this condition. In patients who have intractable seizures, epileptogenic foci may originate from a single tuber. Single-photon emission CT (SPECT) imaging of the brain is useful during the ictal phase of seizures to detect the hyperperfusion of a seizure focus; this information can be valuable because surgery can be an option.
Positron emission tomography (PET) imaging may also be helpful in patients with seizures. PET imaging with F-18-fluorodeoxyglucose can localize tubers, which appear hypometabolic. Experimental studies using C-11 alpha methyl tryptophan (AMT) may become useful. In early studies, tubers acting as seizure foci appear hyperintense on a C-11 AMT PET images.
Renal scintigraphy demonstrates multiple hypoperfused and hypofunctioning lesions, such as cysts or angiomyolipomas, of the kidneys; however, these findings are nonspecific.
Findings
Angiography is dominant in the characterization of vascular derangements associated with tuberous sclerosis. Some authors believe that progressive degenerative changes or compromise of the media results in aneurysms. Thoracic and abdominal aneurysms can develop in patients as young as 10 years or younger. Intracranial aneurysms also can be present, and one source proposes that these should be included as a nonprimary diagnostic feature of tuberous sclerosis.
Generally, angiography is not necessary to evaluate the kidney. However, if performed, angiography may demonstrate hypervascularity, neovascularity, and small arterial aneurysms in the angiomyolipomas. Cystic lesions are avascular. Findings believed to be suggestive of angiomyolipomas include pseudoaneurysms and a lack of arteriovenous (AV) shunting. AV shunting is common in renal cell carcinoma.
Percutaneous embolization may be helpful in controlling intratumoral hemorrhage from renal angiomyolipomas, especially if multiple lesions are present; in this situation, surgery may be difficult or impossible to perform.
Degree of Confidence
Angiographic findings of hypervascularity, neovascularity, and small artery aneurysms also can be observed in renal cell carcinoma. These entities may be difficult to distinguish on angiograms. The presence of AV shunting may help distinguish the entities because AV shunting is common in renal cell carcinoma but rarely, if ever, observed in angiomyolipomas of tuberous sclerosis.
Interventional procedures, such as angiographic embolization, may help in patients with bleeding from renal angiomyolipomas.
Medical/Legal Pitfalls
- Failure to make the diagnosis expeditiously and accurately, which is required to provide appropriate genetic counseling, is a potential pitfall.
- Sonographic detection in utero continues to improve; this improvement helps in earlier diagnosis.
The authors and editors of eMedicine gratefully acknowledge the contributions of previous coauthor Dr Nana Amiridze to the development and writing of this article.
| Media file 1:
Axial nonenhanced CT image in a patient with tuberous sclerosis reveals subependymal calcifications. A hypointense right frontal lesion represents a white matter lesion or tuber; it extends from the lateral ventricle through the cerebral cortex. |
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Hyperattenuating cutaneous lesion in the left frontal region represents a calcified shagreen patch. |
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Axial CT image obtained at the same level as in Image 1 reveals no enhancement in this white matter lesion in the right frontal lobe after the intravenous administration of contrast material. |
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Contrast-enhanced head CT scan reveals a low-attenuating cortical tuber (arrow) in a 10-year-old patient with tuberous sclerosis. |
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Nonenhanced head CT scan reveals bilateral calcified subependymal nodules at the foramina of Monro. |
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Image obtained in the same patient as in Image 5, who presented at age 16 years with progressive headaches, papilledema, and vomiting, shows a giant cell astrocytoma at the right foramen of Monro. |
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Axial T1-weighted MRI in a 15-year-old patient with tuberous sclerosis shows tiny a subependymal nodule in the right lateral ventricle (arrow). Another subtle nodule is present near the left foramen of Monro. |
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Axial proton density–weighted MRI in a 10-year-old girl with tuberous sclerosis (TS) demonstrates bilateral isointense transcortical linear streaks that are compatible with the neuronal migration anomalies seen in TS. |
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Axial T2-weighted MRI in an infant with tuberous sclerosis shows multiple low-signal-intensity subependymal and cortical tubers. |
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Nonenhanced CT scan shows large right retinal tuber in an infant with tuberous sclerosis. |
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| Media file 11:
Axial nonenhanced CT scan obtained in the same patient as in Image 10 shows multiple hyperattenuating subependymal tubers. |
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Axial T1-weighted contrast-enhanced MRI in the same patient as in Image 10 shows a minimally enhancing right retinal tuber and smaller left retinal tuber. |
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Sagittal T1-weighted MRI in an infant with tuberous sclerosis shows multiple hyperintense cortical and subependymal nodules. |
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Contrast-enhanced cardiac-gated T1-weighted MRI shows an enhancing left ventricular mass. At autopsy, this mass was found to be a cardiac rhabdomyoma. |
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Coronal T1-weighted cardiac-gated MRI in the same patient as in Image 14 shows a hyperintense left ventricular mass. |
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Image in a 16-year-old adolescent with bilateral renal angiomyolipomas. |
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Image in a 15-year-old boy with a right-sided abdominal mass, which is a renal cell carcinoma. |
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- Abbott GF, Rosado-de-Christenson ML, Frazier AA, et al. From the archives of the AFIP: lymphangioleiomyomatosis: radiologic-pathologic correlation. Radiographics. May-Jun 2005;25(3):803-28. [Medline].
- Barkovich AJ. Pediatric Neuroimaging. Philadelphia, Pa: Lippincott-Raven; 1990:. 135-9.
- Chugani DC, Chugani HT, Muzik O, et al. Imaging epileptogenic tubers in children with tuberous sclerosis complex using alpha-[11C]methyl-L-tryptophan positron emission tomography. Ann Neurol. Dec 1998;44(6):858-66. [Medline].
- Elsayes KM, Narra VR, Lewis JS Jr, Brown JJ. Magnetic resonance imaging of adrenal angiomyolipoma. J Comput Assist Tomogr. Jan-Feb 2005;29(1):80-2. [Medline].
- Grossman RI, Yousem DM. Neuroradiology: The Requisites. St. Louis, Mo: Mosby-Year Book; 1994:. 268-70.
- Osborn AG. Diagnostic Neuroradiology. St. Louis, Mo: Mosby-Year Book; 1994:. 93-8.
- Smirniotopoulos JG, Hartman DS. Renal cystic disease associated with tuberous sclerosis. In: Pollack HM, ed. Clinical Urography. Vol 2. 2nd ed. Philadelphia, Pa: WB Saunders; 2000:. 1359-67.
- Wolpert SM, Barnes PD. MRI in Pediatric Neuroradiology. St. Louis, Mo: Mosby-Year Book; 1992:. 315-9.
Tuberous Sclerosis excerpt Article Last Updated: Dec 1, 2005
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