SEGA tumors in patients without clinical manifestation of TSC– a diagnostic puzzle.

Pediatric Neurology(2024)

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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 presence of 2 major, or 1 major and 2 minor manifestations, according to diagnostic criteria developed by the International Tuberous Sclerosis Complex Consensus Group in 2021.1 With the incidence of about 1:6,000 to 1:10,000 in general population TSC is a second most common neurocutaneous disorder.
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Key words
tumors,clinical manifestation,tsc–,diagnostic puzzle
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