eMedicine Specialties > Radiology > Multisystem

Tuberous Sclerosis: Follow-up

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

Intervention

Interventional procedures, such as angiographic embolization, may help in patients with bleeding from renal angiomyolipomas.11

Medicolegal 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.
 
Acknowledgments

The authors and editors of eMedicine gratefully acknowledge the contributions of previous coauthor Dr. Nana Amiridze to the development and writing of this article.



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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