巨頭症を伴ったCowden病の1例

Cowden's Disease Associated with Intestinal Polyposis and Macrocranium, Report of a Case

要旨　患者は50歳，男性．Cowden病に特徴的な皮膚病変に加え，消化管ポリポーシスおよび巨頭症を認めた．消化管ポリポーシスは食道，胃，回腸末端，大腸に認め，組織学的には過形成および過誤腫であった．胃ポリポーシスは21年間の経過観察で増大傾向はなかった．大腸ポリポーシスは他部位に比べ，背が低く，起始部もなだらかであった．巨頭症は巨脳症のためであり，大脳腫大に伴う後頭葉の下方偏位がMRI上の特徴と考えられた．また本例ではLhermitte-Duclos症候群の合併はなかった．

　Cowden's disease (multiple hamartomatous syndrome) is a rare disease with characteristic mucocutaneous lesions, breast cancer, thyroid cancer, and polyposis of the gastrointestinal tract. We describe a case of Cowden's disease in a 50-year-old man with intestinal polyposis and macrocranium. Polyposis has been visualized in the esophagus, stomach, terminal ileum, colon, and rectum for more than 20 years without enlargement. MRI of the brain shows megalencephaly with caudal displacement of the occipital lobe, which is a characteristic finding of Cowden's disease without Lhermitte-Duclos syndrome.