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) |