Peutz-Jeghers症候群の1症例

A Case of Peutz-Jeghers Syndrome

　Peutz-Jeghers症候群はPeutz¹⁾により1921年にオランダの雑誌に最初に記載され，ここにおいて口唇掌蹠色素斑と腸ポリープ症の併存を指摘された．更に1949年Jeghers²⁾らの自験例を含め10例の詳細な集計より，口腔粘膜・口唇・指趾の明瞭な色素斑および腸ポリポージス，単優性遺伝を思わせるような家族内発生例が多いことを発表してより，比較的まれな疾患として発表が続いている．著者らは最近，胃・小腸および大腸のポリポージスならびに皮膚粘膜の異常色素沈着を有し，経過中に腸重積症を起こし手術を行なった1例を経験したので報告し，あわせて若干の文献的考察を試みる．

　The patient is an 18-year-old female office clerk. In May 1971 she was first seen with pigmental spots on her lips for which she was to receive keloplasty. Being suspected as showing Peutz-Jeghers syndrome, she was examined in detail for any possible gastrointestinal polyp. Fluoroscopy of the stomach and gastroscopy revealed about 12 pedicled and subpedicled polyps scattered about from the convexity way down to vestibule. Biopsy confirmed them to be adenomatous polyps. Irrigoradioscopy of the small intestine revealed about 6 polyps in the duodenum, jejunum and ileum. In addition, by barium enema and sigmoidoscopy about 10 polyps were found at sites ranging from the hepatic flexure to rectum. Rectal biopsy confirmed them to be of the same adenomatous variety. Pigment spots were seen on the lower lip, buccal mucosa, the inner surface of the fingers of the left hand and over the sole of the left foot.

　While under observations, the patient had bouts of bellyache and watery stools, and was examined by barium enema. As indigitation, proliferation of the polyps and a shadow defect in the sigmoid flexure were suspected, surgical intervention was carried out: enucleation of 7 pedicled polyps from the spots 15 cm below the Treiz' ligament down to the terminal ileum, and of one polyp from the hepatic flexure; about 14 cm long excision of the sigmoid flexure segment, together with enucleation of the right ovary on account of oophoroma. Tissue was found to be of benign adenoma, and the part suspected as a defect at the sigmoid flexure was simply proliferated granulation surrounding a substance like a suture.

　Up to now 173 case reports on Peutz-Jeghers syndrome have been available, the mean age being 25.5 years, male and female equally affected. Of 151 cases of gastrointestinal polyps, 102 (59.2%) were of the small intestine.

　Fourteen case reports of canceration and 6 of precancerosis have been available: 4 in the stomach, 4 in small intestine, 3 in colon and 2 in rectum. The mean age of canceration is 33.3 years. As per part of genesis: the stomach-37.3 years; small intestine-24.2 years; colon-48.3 years; and rectum-25.5 years.

　Seven cases were complicated by cancer and 5 by ovariopathy.