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Table 2 Previous reports of GI tract polyposis in TSC patients

From: Tuberous Sclerosis Complex with rare associated findings in the gastrointestinal system: a case report and review of the literature

Reference Age TSC features GI tract alterations Mutant genea
[18] 17 yo female Mental retardation, brain astrocytoma, facial angiofibroma, hypomelanotic macules, renal angiomyolipoma Rectal adenocarcinoma and multiple (> 50) tubular adenomas NA
[19] 42 yo female Seizures, renal and liver angiofibromas, multiple subependymal calcifications of the brain, lymphangioleiomyomatosis of the lungs, cerebromalacia Multiple gastric (fundic) hamartomas NA
[20] 51 yo female Epilepsy, mild cognitive impairment, ungueal fibromas. More than 50 sessile polyps of small size scattered through the left colon and rectum TSC1
c.1257delC
(p.Arg420Glyfs*20)
  1. aNA Not assessed