Tuberous Sclerosis or Angiomyolipoma? A Case Report
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 organ...
| Main Authors: | , , |
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| Format: | Article |
| Language: | English |
| Published: |
Danubius University
2021-08-01
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| Series: | EIRP Proceedings |
| Subjects: | |
| Online Access: | https://dp.univ-danubius.ro/index.php/EIRP/article/view/184/201 |
| Summary: | 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. |
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| ISSN: | 2067-9211 2069-9344 |