Tuberous Sclerosis or Angiomyolipoma? A Case Report

• Main Authors: Ana-Maria Pașatu-Cornea, Elena Ciciu, Liliana Ana Tuță
• Format: Article
• Language: English
• Published: Danubius University 2021-08-01
• Series: EIRP Proceedings
• Subjects: tuberous sclerosis; angiomyolipoma; kidney
• Online Access: https://dp.univ-danubius.ro/index.php/EIRP/article/view/184/201

Tuberous sclerosis complex (TSC) is a multisystem disorder, with significant renal cystic and solid tumour disease. It is caused by mutations in either TSC1 or TSC2 gene, which regulate cell growth and proliferation by inhibition of mTORC1 signaling. It is characterized by affecting multiple organs and it is associated with glial tumours, adenoma sebaceum, rhabdomyoma and hamartomatous tumours of liver, lung, thyroid, retina, pancreas, adrenal glands and ovaries which determine the clinical manifestations. Its neurological manifestations include epilepsy, autism, cognitive and behavioural dysfunction. We report a case of a 39year old women in which the diagnosis is uncertain due to the lack of symptoms presented during the last 10 years and probably due to incomplete investigations. The diagnosis of TSC is primarily made clinically based on Tuberous sclerosis complex diagnostic criteria. Genetic testing is not required in every individual with TSC, though it may be helpful in patients suspected to have TSC but does not have enough signs of the disease to meet the full diagnostic criteria. Early diagnosis of TSC is very important in order to offer appropriate care and long-term surveillance especially when a new therapy is available. The present study reports a high probability case of Tuberous sclerosis complex.