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.
The authors and editors of eMedicine gratefully acknowledge the contributions of previous coauthor Dr. Nana Amiridze to the development and writing of this article.
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References
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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].
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].
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].
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].
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].
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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].
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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].
[Best Evidence] Hancock EC, Osborne JP, Edwards SW. Treatment of infantile spasms. Cochrane Database Syst Rev. Oct 8 2008;CD001770. [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].
Grossman RI, Yousem DM. Neuroradiology: The Requisites. St. Louis, Mo: Mosby-Year Book; 1994:. 268-70.
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].
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].
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.
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Further Reading
Related eMedicine topics
Tuberous Sclerosis (from Pediatrics: Genetics and Metabolic Disease)
Tuberous Sclerosis (from Neurology)
Tuberous Sclerosis (from Dermatology)
First Seizure, Pediatric Perspective
Epilepsy in Children with Mental Retardation
Guidelines
Practice Parameter: Medical Treatment of Infantile Spasms: Report of the American Academy of Neurology and the Child Neurology Society
Clinical studies
Study of Skin Tumors in Tuberous Sclerosis
Keywords
tuberous sclerosis, Bourneville disease, Pringle's disease, Pringle disease, facial angiofibroma, papular facial nevus, adenoma sebaceum, tuberous sclerosis complex, TSC, lymphangioleiomyomatosis, renal angiomyolipoma
Follow-up: Tuberous Sclerosis