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家族性大腸ポリープ症(familial polyposis coli)は比較的稀な疾患であるが,大腸癌の発生頻度の高いことが知られており,全国調査(1961~72)の集計では,20歳以下で既に29%に達し,放置すれば全例が癌化すると推定されている1).一方,大
腸ポリープ症のほかに骨腫などの随伴病変を合併するGardner症候群は更に稀な疾患とされているが,最近では遺伝学的な研究も含め,家族性大腸ポリープ症との関連が注目されている.
今回われわれは大腸ポリポーシスに下顎骨腫を随伴した症例と,その母で孤立性の大腸ポリープおよび頭部のsoft tumorを検出し得た症例を経験したので,これらの例に一部免疫学的検索も加え報告する.
Two cases (mother and son) of suspected “Gardner's syndrome, occult form” are reported.
Case 1 was a 15-year-old boy. He was admitted with a preliminary diagnosis of hypochromic anemia. Y-ray and endoscopic examination revealed numerous polyps in the large intestine. Two osteoma-like shadows were also found by orthopantomographical examination, but the presence of a soft tumor was not observed. Case 2 was a 40-year-old woman, the mother of case 1. No complaint was observed, but X-ray and endoscopic examinations revealed broadbased polyps in the sigmoid colon. She also had a epidermoid cyst on the left occipito-temporal side.
Case 1 showed a slight increase of serum CEA levels and abnormal decrease of T lymphocytes; therefore, a certain immunodeficiency was suspected.
Both cases were operated on six months of ter diagnosis and the histological feature of resected polyps in both cases showed a picture of adenocarcinoma.
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