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Congress: ECR25
Poster Number: C-22268
Type: Poster: EPOS Radiologist (educational)
Authorblock: S. K. Hadzhiyska, R. Vuchkova, R. Petkov; Sofia/BG
Disclosures:
Simona Krasimirova Hadzhiyska: Nothing to disclose
Ralitsa Vuchkova: Nothing to disclose
Radoslav Petkov: Nothing to disclose
Keywords: Abdomen, Neuroradiology brain, Thorax, CT, MR, Ultrasound, Diagnostic procedure, Genetic defects
Learning objectives To identify the various clinical presentations of tuberous sclerosis (TS). To learn about the characteristic diagnostic features typically associated with the disease. To highlight the possible complications and how to evaluate them.
Read more Background Tuberous sclerosis complex (TSC) is a genetic neurocutaneous disorder (or phacomatosis) with autosomal dominant inheritance that predisposes to benign tumor formation (hamartomas) in a wide range of organs - brain, kidneys, skin, heart, lungs. It is caused by a mutation in either of two genes, TSC1 or TSC2, which are related to hamartin and tuberin production respectively. The former and the latter play an important role as tumor growth suppressors and regulate cell proliferation and differentiation. Loss of function of...
Read more Findings and procedure details In cases where the clinical presentation isn’t sufficient for a conclusive diagnosis, imaging comes in aid with all modalities serving a role. Magnetic resonance imaging (MRI) and computed tomography can both provide a comprehensive and precise evaluation of most, if not all, organ manifestations. Despite their lower specificity and sensitivity (compared to CT and MR), radiography and ultrasound also contribute to this assessment and are excellent in providing first-hand information, for example: On a chest X-ray a radiologist can recognize pneumothorax...
Read more Conclusion TS is a rare disease with an uncertain prognosis and no definitive treatment yet. Depending on the severity of the organ manifestations and the clinical course of TSC, patients require life-long monitoring, vigilant surveillance and coordination of care. While a benign condition, hamartomas can cause irreparable damage to a system’s regular function and lead to life-threatening complications (recurrent pneumothorax, chylothorax, renal failure, neurocognitive deficits etc.). Therefore, radiologic assessment with US, X-ray, CT and MRI has an important role in early...
Read more References Mindy X. Wang , Nicole Segaran, Sanjeev Bhalla, Perry J. Pickhardt, Meghan G. Lubner, Venkata S. Katabathina, Dhakshinamoorthy Ganeshan. Tuberous Sclerosis: Current Update. Published Online:Sep 17 2021 https://doi.org/10.1148/rg.2021210103 Preeti Rout; Edgar A. Zamora; Narothama R. Aeddula. Last Update: September 3, 2024. https://www.ncbi.nlm.nih.gov/books/NBK538492/ Felipe Mussi von Ranke 1, Igor Murad Faria 1, Gláucia Zanetti 2, Bruno Hochhegger 3, Arthur Soares Souza Jr 4, Edson Marchiori. Imaging of tuberous sclerosis complex: a pictorial review. 2017 Jan-Feb;50(1):48–54. https://doi.org/10.1590/0100-3984.2016.0020 Sattar A, Silverstone L, Walizai T, et al....
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