Go Back
This abstract was viewed 49 times

Review article


Clinically relevant imaging in tuberous sclerosis

Rupa RadhakrishnanSadhna Verma
Department of Radiology, University of Cincinnati Medical Center, Cincinnati, OH, USA
Date of Submission: 17-May-2011, Date of Acceptance: 19-Jun-2011, Date of Web Publication: 27-Jul-2011.
Corresponding Author:
Corresponding Author

Sadhna Verma

University of Cincinnati Medical Center, Department of Radiology, 234 Goodman Street, PO Box 670761, Cincinnati, OH 45267-0761, USA
E-mail: drsadhnaverma@gmail.com

Corresponding Author:
Corresponding Author

Sadhna Verma

University of Cincinnati Medical Center, Department of Radiology, 234 Goodman Street, PO Box 670761, Cincinnati, OH 45267-0761, USA
E-mail: drsadhnaverma@gmail.com

DOI: 10.4103/2156-7514.83230 Facebook Twitter Google Linkedin

ABSTRACT


Tuberous sclerosis (TS), also known as Bourneville disease or Bourneville-Pringle disease, is an autosomal dominant genetic disorder classically characterized by the presence of hamartomatous growths in multiple organs. TS and tuberous sclerosis complex (TSC) are different terms for the same genetic condition. Both terms describe clinical changes due to mutations involving either of the two genes named TSC1 and TSC2, which regulate cell growth. The diagnosis of TSC is established using diagnostic criteria based on clinical and imaging findings. Routine screening and surveillance of patients with TSC is needed to determine the presence and extent of organ involvement, especially the brain, kidneys, and lungs, and identify the development of associated complications. As the treatment is organ specific, imaging plays a crucial role in the management of patients with TSC.
Keywords: Angiomyolipomas, Lymphangioleiomyomatosis, Tubers

Cited in 11 Documents

  1. Dolores Ferrara, Gianfranco Vallone, Enrico Tedeschi, Andrea Ponsiglione, Arnaldo Stanzione, Antonio Pisani and Massimo Imbriaco (2018) An unusual case of tuberous sclerosis incidentally discovered in adulthood: case report and review of the literature. Acta Radiologica Open 7(12):205846011880632. doi: 10.1177/2058460118806328
  2. Xuncan Liu, Yanfeng Zhang, Yunpeng Hao, Yinbo Chen and Chen Chen (2019) Tuberous sclerosis complex presenting as convulsive status epilepticus followed by hypoxic cerebropathy. Medicine 98(19):e15545. doi: 10.1097/MD.0000000000015545
  3. E. D. Belousova, M. Yu. Dorofeeva, A. M. Pivovarova and O. V. Katusheva (2015) Diagnosis of tuberous sclerosis complex. Z. nevrol. psikhiatr. im. S.S. Korsakova 115(10):89. doi: 10.17116/jnevro201511510189-95
  4. Shan Hu, Dao-yu Hu, Wen-zhen Zhu, Liang Wang and Zi Wang (2016) Tuberous sclerosis complex: Imaging characteristics in 11 cases and review of the literature. J. Huazhong Univ. Sci. Technol. [Med. Sci.] 36(4):601. doi: 10.1007/s11596-016-1632-5
  5. Maria Gosein, Alison Harris, Emily Pang, Paramanand Maharaj and Silvia Chang (2017) Abdominal Imaging Findings in Neurocutaneous Syndromes: Looking Below the Diaphragm. American Journal of Roentgenology 209(6):1197. doi: 10.2214/AJR.17.18404
  6. Letao Lin, Chengen Wang, Renguang Pei, Haitao Guan, Jian Wang, Min Yang, Xiaoqiang Tong and Yinghua Zou (2018) Prophylactic selective arterial embolization for renal angiomyolipomas: efficacy and evaluation of predictive factors of significant shrinkage. Int Urol Nephrol 50(10):1765. doi: 10.1007/s11255-018-1953-3
  7. Chengen Wang, Min Yang, Xiaoqiang Tong, Jian Wang, Haitao Guan, Guochen Niu, Ziguang Yan, Bihui Zhang and Yinghua Zou (2017) Transarterial embolization for renal angiomyolipomas: A single centre experience in 79 patients. J Int Med Res 45(2):706. doi: 10.1177/0300060516684251
  8. A. M. Espinoza-Coronado, J. P. Loyola-Rodríguez, J. H. Olvera-Delgado, J. O. García-Cortes and J. F. Reyes-Macías (2018) Desmoplastic Fibroma Recurrence Associated with Tuberous Sclerosis in a Young Patient. Case Reports in Dentistry 2018:1. doi: 10.1155/2018/1370184
  9. Manju M. Chandra (2017) Editorial Comment. Journal of Urology 197(2):506. doi: 10.1016/j.juro.2016.09.127
  10. Tracy S. Ma, Robert E. Elliott, Véronique Ruppe, Orrin Devinsky, Ruben Kuzniecky, Howard L. Weiner and Chad Carlson (2012) Electrocorticographic evidence of perituberal cortex epileptogenicity in tuberous sclerosis complex. 10(5):376. doi: 10.3171/2012.8.PEDS1285
  11. Anil Kapoor, Louis Girard, Jean-Baptiste Lattouf, York Pei, Ricardo Rendon, Paul Card and Alan So (2016) Evolving Strategies in the Treatment of Tuberous Sclerosis Complex-associated Angiomyolipomas (TSC-AML). Urology 89:19. doi: 10.1016/j.urology.2015.12.009

This is an open-access article distributed under the terms of the Creative Commons Attribution-NonCommercial-Share Alike 4.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.