Congenital Stenosis of the Lower Esophagus Associated with Leiomyoma and Leiomyosarcoma of the Gastrointestinal Tract

Abstract

The purpose of this paper is to report our analysis of four generations of a family with congenital strictures of the lower esophagus associated with leiomyoma of the gastrointestinal tract. Two members of the family died of sarcomatous degeneration of the leiomyoma and one is still alive 2 years after resection of the malignancy. Three family members had surgical repair of the congenital stricture. Surgical repair was unnecessary in one, for whom repeated dilatations alleviated the symptoms. Since there were no direct female descendants in this family, it is unknown whether this hereditary disease is carried by a sex-linked dominant gene. There are no reports in the literature of a familial tendency to congenital strictures of the esophagus, nor are there any reports of strictures in association with gastrointestinal leiomyoma and the later development of sarcomatous degeneration. The literature is reviewed, syndromes of leiomyoma of the esophagus and gastrointestinal tract are detailed, the particulars of the family tree and the patients are described, and the study is summarized.