右胸腹裂孔ヘルニアを合併した Cornelia de Lange 症候群の1例 : 外科的合併奇形及び上部消化管異常について

概要

論文の詳細を見る
A female infant with Cornelia de Lange syndrome (CdLS) underwent the right Bochdalek hernia repair on the first day of life. Four years later, she presented hematemesis and dysphagia. X-ray examination revealed small hiatal hernia with stricture and marked gastroesophageal reflux (GER) with delayed gastroesophgeal emptying. We reviewed the cases of 217 patients with CdLS in Japanese and English literature from April 1974 to May 1989. Feeding difficulty was seen in 31 (70.5%) of 44 Japanese patients, in which one fourth required tube feeding. The common radiologic findings in 17 patients of Japanese and English literature were GER in 10 (58.5%), hiatal hernia in 8 (47.1%), lack of primary esophageal peristalsis in 7 (41.2%), nasopharyngeal reflux in 5 (29.4%) in order of fre-quency. Patients with CdLS have functional and/or structural abnormalities of upper gastrointestinal tract, which cause the life threatening and recurrent pneumo-nia. In the management of patients with CdLS, it is essen-tial to evaluate the nature of feeding disorder in order to make appropriate treatment without delay.
日本小児外科学会の論文
1990-08-20