Megaesophagus and recurrent apnea in an adult patient with familial dysautonomia.

Abstract

A 42-yr-old woman with familial dysautonomia (FD) presented with severe episodes of apnea during the daytime, as well as during sleep. Investigations revealed a megaesophagus and a lower esophageal constriction. These caused accumulation of food in the esophagus, resulting in recurrent aspiration and apnea which disappeared after gastrostomy. Megaesophagus, a rare complication in FD patients, can occur in other diseases with autonomic dysfunctions, and one must be aware of its potential respiratory complications.