Peutz-Jeghers症候群の1家系
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概要
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A 58-year-old female was admitted because of colicky abdominal pain. Physical examination revealed firm abdominal wall, increased bowel sounds and multiple pigmented macules on the lips, oral mucosa, soles and volar aspects of the fingers and toes. Hyperventilation and tetanic rigidity of the extremities were also noted. The symptoms were successfully treated by intravenous injection of butropium bromide and diazepam. Roentgenological and fiberscopic examination revealed multiple polyps in the stomach, small intestine and colon ; the small intestine was most heavily loaded with polyps. Biopsy specimen revealed only inflammatory changes. The patient had undergone a resectien of the terminal ileum with polyps 15 years previously because of ileo-ileal intussusception. Histological re-evaluation of the polyp showed an actively proliferating papillary adenoma. The characteristic history and gastrointestinal findings lead us to the examination of the family, which revealed that her father, son and grandson had similar pigmentation of the skin and polyps in the gastrointestinal tract. These characteristic findings and family history permitted us to make a diagnosis of Peutz-Jeghers syndrome. The diagnosis had been missed supposedly because of unawareness of the skin lesions and the lack ofhamartoma-like findings in the polyp. The tetanic rigidity of the extremities was probably hyperventilation syndrome induced by severe abdominal pain. The patient has been followed up for possible recurrence of symptoms and a potential malignant change.
- 岡山大学温泉研究所の論文
- 1984-03-25
岡山大学温泉研究所 | 論文
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