Title: Subependymal Giant Cell Astrocytoma Tumors in Patients Without Clinical Manifestation of Tuberous Sclerosis Complex: A Diagnostic Puzzle
Abstract: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder caused by inactivating mutation in TSC1 or TSC2 genes, which predisposes to the development of benign lesions in different organ systems, including the brain. TSC has diverse clinical features affecting the skin, heart, kidneys, and lungs. The diagnosis of TSC is based on the presence of pathogenic mutation or the presence of two major or one major and two minor manifestations, according to the diagnostic criteria developed by the International Tuberous Sclerosis Complex Consensus Group in 2021. 1 Northrup H. Aronow M.E. Bebin E.M. et al. Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations. Pediatr Neurol. 2021; 123: 50-66 Abstract Full Text Full Text PDF PubMed Scopus (176) Google Scholar With an incidence of about 1:6000 to 1:10,000 in the general population TSC is the second most common neurocutaneous disorder.
Publication Year: 2023
Publication Date: 2023-09-01
Language: en
Type: article
Indexed In: ['crossref', 'pubmed']
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Cited By Count: 1
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