title: 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.
authors.affiliation: Department of Internal Medicine, Hadassah University Hospital, Mount Scopus, Jerusalem, Israel.
authors.forename: C
authors.initials: C
authors.lastname: Maayan
authors.forename: A
authors.initials: A
authors.lastname: Oren
authors.forename: E
authors.initials: E
authors.lastname: Goldin
authors.forename: D
authors.initials: D
authors.lastname: Dinour
authors.forename: M
authors.initials: M
authors.lastname: Goldberg
authors.forename: P
authors.initials: P
authors.lastname: Mogle
mesh_terms: D000328:Adult; D004402:Dysautonomia, Familial / Q000150:complications*; D004931:Esophageal Achalasia / Q000209:etiology*; D005260:Female; D006801:Humans; D011015:Pneumonia, Aspiration / Q000209:etiology; D012891:Sleep Apnea Syndromes / Q000209:etiology*