TUBEROUS SCLEROSIS COMPLEX- RADIOLOGICAL FEATURES IN DIFFERENT BODY SYSTEMS

Veronika Apostoloska; Elizabeta Stojovska Jovanovska; Maja Jakimovska Dimitrovska; Smiljana Bundovska Kocev; Sofija Crcevska; Nacko Stavreski

Veronika Apostoloska Resident of Institute of Radiology, Skopje, Faculty of Medicine, Ss Cyril and Methodius University in Skopje, North Macedonia
Elizabeta Stojovska Jovanovska Institute of Radiology, Skopje, Faculty of Medicine, Ss Cyril and Methodius University in Skopje, North Macedonia
Maja Jakimovska Dimitrovska Institute of Radiology, Skopje, Faculty of Medicine, Ss Cyril and Methodius University in Skopje, North Macedonia
Smiljana Bundovska Kocev Institute of Radiology, Skopje, Faculty of Medicine, Ss Cyril and Methodius University in Skopje, North Macedonia
Sofija Crcevska PHI Healthcare Center, Skopje, North Macedonia
Nacko Stavreski PHI Health Center, Vevcani, North Macedonia

Abstract

Tuberous sclerosis (TS) is a rare genetic disorder of autosomal - dominant inheritance. Tuberous sclerosis complex is characterized by the development of benign tumors affecting different body systems who results in hamartomas involving many organs, like the brain, heart, kidneys, skin, lungs and liver. The management of these patients is often multidisciplinary, involving specialists from various fields. TSC presents at any age as a wide range of clinical and phenotypic manifestations with varying severity. The most common manifestations are facial angiofibroma, seizures, cortical tubers, cardiac rhabdomyoma, renal cysts and tumor of the kidneys. We present four patients with characteristic clinical and radiological features of multilocular tuberous sclerosis.

Keywords: Tuberous sclerosis complex (TSC), tuberous sclerosis (TS), cortical tubers, angiofibromas, renal angiomyolipomas (AML).

References

1. Dumitrescu D, Georgescu EF, Niculescu M, Dumitrescu CI, Mogoanta SS, Georgescu I. Tuberous sclerosis complex: Report of two intrafamilial cases, both in mother and daughter. Rom J Morphol Embryol. 2009;50:119â€“24.
2. Olubunmi OA. Misdiagnosis of tuberous sclerosis in a Nigerian girl: A case report and review of literature. Ann Afr Med. 2010;9:95â€“101.
3. Illahi Y, Tanveer S, Khurshid Pasha KA, Naeem A, Ali N. Tuberous sclerosis. Classical presentation in a male patient. NMJ. 2010;2:29â€“32.
4. A case report of tuberous sclerosis in two generations. Patil S, Guruprasad KY. https://europepmc.org/article/med/26259427 J Assoc Physicians India. 2014;62:60â€“64.
5. Tuberous sclerosis complex: advances in diagnosis, genetics, and management. Schwartz RA, FernÃ¡ndez G, Kotulska K, JÃ³Åºwiak S. JAAD. 2007;57:189â€“202.
6. Tuberous sclerosis. Harris-Stith R, Elston DM. https://mdedge-files-live.s3.us-east-2.amazonaws.com/files/s3fs-public/Document/September-2017/069020103.pdf Contin Med Educ. 2002;69:103.
7. Shave and phenolization of periungual fibromas, Koenen's tumors, in a patient with tuberous sclerosis. Mazaira M, Losada JD, Fernandez-Jorge B, Fernandez-Torres R, MartINez W, Fonseca E. Dermatol Surg. 2008;34:111â€“113.
8. Midde ML, Saheb DM. Tuberous sclerosis complex â€“ A case report. Southeast Asian J Case Rep Rew. 2013;2:343â€“8.
9. Shrestha S, Shrestha S, Ojha AR. Case report on tuberous sclerosis. J Kathmandu Med Coll. 2013;2:208â€“10.
10. Mindy X. Wang, Nicole Segaran, Sanjeev Bhalla, Perry J. Pickhardt, Meghan G. Lubner, Venkata S. Katabathina, Dhakshinamoorthy Ganeshan. Tuberous Sclerosis: Current Update. RadioGraphics 2021; 41(7): 1992 doi: 10.1148/rg.2021210103
11. Jankar AN, Palange PB, Purandare VC. Tuberous sclerosis â€“ A case report. Int J Biomed Res. 2014;5:649â€“50.
12. Costello LC, Hartman TE, Ryu JH. High frequency of pulmonary lymphangioleiomyomatosis in women with tuberous sclerosis complex. Mayo Clin Proc 2000;75(6):591â€“594.
13. Northrup H, Krueger DA. International Tuberous Sclerosis Complex Consensus Group. Tuberous sclerosis complex diagnostic criteria update: recommendations of the 2012 International Tuberous Sclerosis Complex Consensus Conference. Pediatr Neurol 2013;49(4):243â€“254.
14. Baskin HJ Jr. The pathogenesis and imaging of the tuberous sclerosis complex. Pediatr Radiol 2008;38(9):936â€“952.
15. Morin CE, Morin NP, Franz DN, Krueger DA, Trout AT, Towbin AJ. Thoracoabdominal imaging of tuberous sclerosis. Pediatr Radiol 2018;48(9):1307â€“1323.