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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