Multimedia
![]() | Media file 2: Hyperattenuating cutaneous lesion in the left frontal region represents a calcified shagreen patch. |
![]() | Media file 4: Contrast-enhanced head CT scan reveals a low-attenuating cortical tuber (arrow) in a 10-year-old patient with tuberous sclerosis. |
![]() | Media file 5: Nonenhanced head CT scan reveals bilateral calcified subependymal nodules at the foramina of Monro. |
![]() | Media file 9: Axial T2-weighted MRI in an infant with tuberous sclerosis shows multiple low-signal-intensity subependymal and cortical tubers. |
![]() | Media file 10: Nonenhanced CT scan shows large right retinal tuber in an infant with tuberous sclerosis. |
![]() | Media file 11: Axial nonenhanced CT scan obtained in the same patient as in Image above shows multiple hyperattenuating subependymal tubers. |
![]() | 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. |
![]() | Media file 13: Sagittal T1-weighted MRI in an infant with tuberous sclerosis shows multiple hyperintense cortical and subependymal nodules. |
![]() | 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. |
![]() | Media file 15: Coronal T1-weighted cardiac-gated MRI in the same patient as in Image 14 shows a hyperintense left ventricular mass. |
![]() | Media file 16: Image in a 16-year-old adolescent with bilateral renal angiomyolipomas. |
![]() | Media file 17: Image in a 15-year-old boy with a right-sided abdominal mass, which is a renal cell carcinoma. |
More on Tuberous Sclerosis |
| Overview: Tuberous Sclerosis |
| Imaging: Tuberous Sclerosis |
| Follow-up: Tuberous Sclerosis |
Multimedia: Tuberous Sclerosis |
| References |
| Further Reading |
| « Previous Page |
References
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].
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].
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].
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].
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].
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.
Wolpert SM, Barnes PD. MRI in Pediatric Neuroradiology. St. Louis, Mo: Mosby-Year Book; 1992:. 315-9.
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




































Multimedia: Tuberous Sclerosis