Down症候群に鎖肛を合併した筋性線維性肥厚型の先天性食道狭窄症の1例

Abstract

The patient was a 12-year-old male with Down's syndrome, who underwent an artificial anus procedure on the 2nd day of life because of atresia ani, and a radical operation for atresia ani at the age of 2 years. Frequent vomiting was often noted from immediately after birth and became severe from about the age of 10. Esophagogram and esophagoscopy revealed a marked stenosis extending from the midportion of the thoracic esophagus to its distal portion, and congenital esophageal stenosis was diagnosed. Since the stenosis was both long and severe, dilatation with a bougie was judged to be impossible and resection of the stenotic portion was performed. Histopathological examination of the resected specimen showed that the cause of the stenosis was musculofibrotic thickening. Congenital esophageal stenosis due to musculofibrotic thickening is frequently associated with other congenital anomalies, but association with both Down's syndrome and atresia ani has not previously been reported in Japan. Concerning the treatment of mild stenosis, dilatation with a bougie or incision of the extramucosal muscles is indicated, but for severe stenosis (as in our case) resection of the stenotic portion is necessary.