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結節性硬化症は常染色体優性の遺伝形式を示す神経皮膚症候群である.全身各種臓器の過誤腫性病変を伴うが,直腸過誤腫性ポリポーシスは診断基準における副所見の1つとして取り上げられている.しかし,消化管病変は直腸のみにとどまらず,食道・胃・結腸にも認められる.本稿では,結節性硬化症ならびにその消化管病変の概説を行い,筆者らが経験した症例の画像所見を中心に呈示する.
Tuberous sclerosis (TS), which is a neurocutaneous syndrome, is associated with hamartomatous lesions of various organs. Rectal hamartomatous polyposis is well known as one of its diagnostic criteria. In TS, however, gastrointestinal manifestations are not limited to rectal polyposis. To date, esophageal, gastric, and colonic hamartomas have been reported. In this report, a clinical outline of TS and TS-related gastrointestinal manifestations is given and is followed by a detailed description of one male patient with TS whom we encountered.
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