eMedicine Specialties > Radiology > Multisystem

Tuberous Sclerosis: Multimedia

Author: Bennett Greenspan, MD, Instructor of Radiology, Mallinckrodt Institute of Radiology, Washington University School of 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
Contributor Information and Disclosures

Updated: May 8, 2009

Multimedia

Axial nonenhanced CT image in a patient with tube...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.
Axial nonenhanced CT image in a patient with tube...

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.

Hyperattenuating cutaneous lesion in the left fro...Media file 2: Hyperattenuating cutaneous lesion in the left frontal region represents a calcified shagreen patch.
Hyperattenuating cutaneous lesion in the left fro...

Hyperattenuating cutaneous lesion in the left frontal region represents a calcified shagreen patch.

Axial CT image obtained at the same level as in I...Media file 3: Axial CT image obtained at the same level as in Image 1 above reveals no enhancement in this white matter lesion in the right frontal lobe after the intravenous administration of contrast material.
Axial CT image obtained at the same level as in I...

Axial CT image obtained at the same level as in Image 1 above reveals no enhancement in this white matter lesion in the right frontal lobe after the intravenous administration of contrast material.

Contrast-enhanced head CT scan reveals a low-atte...Media file 4: Contrast-enhanced head CT scan reveals a low-attenuating cortical tuber (arrow) in a 10-year-old patient with tuberous sclerosis.
Contrast-enhanced head CT scan reveals a low-atte...

Contrast-enhanced head CT scan reveals a low-attenuating cortical tuber (arrow) in a 10-year-old patient with tuberous sclerosis.

Nonenhanced head CT scan reveals bilateral calcif...Media file 5: Nonenhanced head CT scan reveals bilateral calcified subependymal nodules at the foramina of Monro.
Nonenhanced head CT scan reveals bilateral calcif...

Nonenhanced head CT scan reveals bilateral calcified subependymal nodules at the foramina of Monro.

Image obtained in the same patient as in Image ab...Media file 6: Image obtained in the same patient as in Image above, who presented at age 16 years with progressive headaches, papilledema, and vomiting, shows a giant cell astrocytoma at the right foramen of Monro.
Image obtained in the same patient as in Image ab...

Image obtained in the same patient as in Image above, who presented at age 16 years with progressive headaches, papilledema, and vomiting, shows a giant cell astrocytoma at the right foramen of Monro.

Axial T1-weighted MRI in a 15-year-old patient wi...Media file 7: 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.
Axial T1-weighted MRI in a 15-year-old patient wi...

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.

Axial proton density–weighted MRI in a 10-y...Media file 8: 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.
Axial proton density–weighted MRI in a 10-y...

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.

Axial T2-weighted MRI in an infant with tuberous ...Media file 9: Axial T2-weighted MRI in an infant with tuberous sclerosis shows multiple low-signal-intensity subependymal and cortical tubers.
Axial T2-weighted MRI in an infant with tuberous ...

Axial T2-weighted MRI in an infant with tuberous sclerosis shows multiple low-signal-intensity subependymal and cortical tubers.

Nonenhanced CT scan shows large right retinal tub...Media file 10: Nonenhanced CT scan shows large right retinal tuber in an infant with tuberous sclerosis.
Nonenhanced CT scan shows large right retinal tub...

Nonenhanced CT scan shows large right retinal tuber in an infant with tuberous sclerosis.

Axial nonenhanced CT scan obtained in the same pa...Media file 11: Axial nonenhanced CT scan obtained in the same patient as in Image above shows multiple hyperattenuating subependymal tubers.
Axial nonenhanced CT scan obtained in the same pa...

Axial nonenhanced CT scan obtained in the same patient as in Image above shows multiple hyperattenuating subependymal tubers.

Axial T1-weighted contrast-enhanced MRI in the sa...Media file 12: 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.
Axial T1-weighted contrast-enhanced MRI in the sa...

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.

Sagittal T1-weighted MRI in an infant with tubero...Media file 13: Sagittal T1-weighted MRI in an infant with tuberous sclerosis shows multiple hyperintense cortical and subependymal nodules.
Sagittal T1-weighted MRI in an infant with tubero...

Sagittal T1-weighted MRI in an infant with tuberous sclerosis shows multiple hyperintense cortical and subependymal nodules.

Contrast-enhanced cardiac-gated T1-weighted MRI s...Media file 14: Contrast-enhanced cardiac-gated T1-weighted MRI shows an enhancing left ventricular mass. At autopsy, this mass was found to be a cardiac rhabdomyoma.
Contrast-enhanced cardiac-gated T1-weighted MRI s...

Contrast-enhanced cardiac-gated T1-weighted MRI shows an enhancing left ventricular mass. At autopsy, this mass was found to be a cardiac rhabdomyoma.

Coronal T1-weighted cardiac-gated MRI in the same...Media file 15: Coronal T1-weighted cardiac-gated MRI in the same patient as in Image 14 shows a hyperintense left ventricular mass.
Coronal T1-weighted cardiac-gated MRI in the same...

Coronal T1-weighted cardiac-gated MRI in the same patient as in Image 14 shows a hyperintense left ventricular mass.

Image in a 16-year-old adolescent with bilateral ...Media file 16: Image in a 16-year-old adolescent with bilateral renal angiomyolipomas.
Image in a 16-year-old adolescent with bilateral ...

Image in a 16-year-old adolescent with bilateral renal angiomyolipomas.

Image in a 15-year-old boy with a right-sided abd...Media file 17: Image in a 15-year-old boy with a right-sided abdominal mass, which is a renal cell carcinoma.
Image in a 15-year-old boy with a right-sided abd...

Image in a 15-year-old boy with a right-sided abdominal mass, which is a renal cell carcinoma.

In tuberous sclerosis, the subependymal hamartoma...Media file 18: In tuberous sclerosis, the subependymal hamartomas depicted on CT scans have a high propensity to become calcified, and the incidence of calcification increases with patient age. The images reveal calcified subependymal nodules that have a typical appearance and location.
In tuberous sclerosis, the subependymal hamartoma...

In tuberous sclerosis, the subependymal hamartomas depicted on CT scans have a high propensity to become calcified, and the incidence of calcification increases with patient age. The images reveal calcified subependymal nodules that have a typical appearance and location.

More on Tuberous Sclerosis

Overview: Tuberous Sclerosis
Imaging: Tuberous Sclerosis
Follow-up: Tuberous Sclerosis
Multimedia: Tuberous Sclerosis
References
Further Reading

References

  1. Nellist M, van den Heuvel D, Schluep D, Exalto C, Goedbloed M, Maat-Kievit A, et al. Missense mutations to the TSC1 gene cause tuberous sclerosis complex. Eur J Hum Genet. Mar 2009;17(3):319-28. [Medline].

  2. Sasongko TH, Wataya-Kaneda M, Koterazawa K, Gunadi, Yusoff S, Harahap IS, et al. Novel mutations in 21 patients with tuberous sclerosis complex and variation of tandem splice-acceptor sites in TSC1 exon 14. Kobe J Med Sci. May 23 2008;54(1):E73-81. [Medline].

  3. Nellist M, Sancak O, Goedbloed M, Adriaans A, Wessels M, Maat-Kievit A, et al. Functional characterisation of the TSC1-TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex. BMC Med Genet. Feb 26 2008;9:10. [Medline].

  4. Schreiner A, Daneshmand S, Bayne A, Countryman G, Corless CL, Troxell ML. Distinctive Morphology of Renal Cell Carcinomas in Tuberous Sclerosis. Int J Surg Pathol. Apr 29 2009;[Medline].

  5. 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].

  6. Umeoka S, Koyama T, Miki Y, Akai M, Tsutsui K, Togashi K. Pictorial review of tuberous sclerosis in various organs. Radiographics. Nov-Dec 2008;28(7):e32. [Medline].

  7. Piao C, Yu A, Li K, Wang Y, Qin W, Xue S. Cerebral diffusion tensor imaging in tuberous sclerosis. Eur J Radiol. Jun 5 2008;[Medline].

  8. 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].

  9. Falip C, Hornoy P, Millischer Bellaïche AE, Merzoug V, Adamsbaum C. [Fetal cerebral magnetic resonance imaging (MRI). Indications, normal and pathological patterns.]. Rev Neurol (Paris). Mar 17 2009;[Medline].

  10. Pompili G, Zirpoli S, Sala C, Flor N, Alfano RM, Volpi A, et al. Magnetic resonance imaging of renal involvement in genetically studied patients with tuberous sclerosis complex. Eur J Radiol. Oct 1 2008;[Medline].

  11. [Best Evidence] Hancock EC, Osborne JP, Edwards SW. Treatment of infantile spasms. Cochrane Database Syst Rev. Oct 8 2008;CD001770. [Medline].

  12. Barkovich AJ. Pediatric Neuroimaging. Philadelphia, Pa: Lippincott-Raven; 1990:. 135-9.

  13. 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].

  14. Grossman RI, Yousem DM. Neuroradiology: The Requisites. St. Louis, Mo: Mosby-Year Book; 1994:. 268-70.

  15. Le Caignec C, Kwiatkowski DJ, Küry S, Hardouin JB, Melki J, David A. Three independent mutations in the TSC2 gene in a family with tuberous sclerosis. Eur J Hum Genet. Mar 4 2009;[Medline].

  16. Milunsky A, Ito M, Maher TA, Flynn M, Milunsky JM. Prenatal molecular diagnosis of tuberous sclerosis complex. Am J Obstet Gynecol. Mar 2009;200(3):321.e1-6. [Medline].

  17. Osborn AG. Diagnostic Neuroradiology. St. Louis, Mo: Mosby-Year Book; 1994:. 93-8.

  18. 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.

  19. Wolpert SM, Barnes PD. MRI in Pediatric Neuroradiology. St. Louis, Mo: Mosby-Year Book; 1992:. 315-9.

Keywords

tuberous sclerosis, Bourneville disease, Pringle's disease, Pringle disease, facial angiofibroma, papular facial nevus, adenoma sebaceum, tuberous sclerosis complex, TSC, lymphangioleiomyomatosis, renal angiomyolipoma

Contributor Information and Disclosures

Author

Bennett Greenspan, MD, Instructor of Radiology, Mallinckrodt Institute of Radiology, Washington University School of Medicine
Bennett Greenspan, MD is a member of the following medical societies: American Cancer Society, American College of Nuclear Medicine, American College of Nuclear Physicians, American College of Radiology, American Society of Nuclear Cardiology, Association of Program Directors in Radiology, Association of University Radiologists, International Society for Clinical Densitometry, Radiological Society of North America, Sigma Xi, and Society of Nuclear Medicine
Disclosure: Nothing to disclose.

Coauthor(s)

L Keith Jordan, MD, Consulting Staff, Radiology Associates PA
L Keith Jordan, MD is a member of the following medical societies: American Medical Association and American Roentgen Ray Society
Disclosure: Nothing to disclose.

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
Charles M Glasier, MD is a member of the following medical societies: American College of Radiology, American Society of Neuroradiology, Radiological Society of North America, and Society for Pediatric Radiology
Disclosure: Nothing to disclose.

Medical Editor

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
Charles M Glasier, MD is a member of the following medical societies: American College of Radiology, American Society of Neuroradiology, Radiological Society of North America, and Society for Pediatric Radiology
Disclosure: Nothing to disclose.

Pharmacy Editor

Bernard D Coombs, MB, ChB, PhD, Consulting Staff, Department of Specialist Rehabilitation Services, Hutt Valley District Health Board, New Zealand
Disclosure: Nothing to disclose.

Managing Editor

Eric J Stern, MD, Professor of Radiology, Adjunct Professor of Medicine, Adjunct Professor of Medical Education and Biomedical Informatics, University of Washington School of Medicine; Director of Thoracic Imaging, Harborview Medical Center; Associate Medical Staff, Seattle Cancer Care Alliance
Eric J Stern, MD is a member of the following medical societies: American Roentgen Ray Society, Association of University Radiologists, European Society of Radiology, Radiological Society of North America, and Society of Thoracic Radiology
Disclosure: Nothing to disclose.

CME Editor

Robert M Krasny, MD, Consulting Staff, Department of Radiology, Resolution Imaging Medical Corporation
Robert M Krasny, MD is a member of the following medical societies: American Roentgen Ray Society and Radiological Society of North America
Disclosure: Nothing to disclose.

Chief Editor

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
James G Smirniotopoulos, MD is a member of the following medical societies: American College of Radiology, American Roentgen Ray Society, American Society of Head and Neck Radiology, American Society of Neuroradiology, American Society of Pediatric Neuroradiology, Association of University Radiologists, and Radiological Society of North America
Disclosure: Nothing to disclose.

 
 
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