Scintigraphic evaluation of esophageal transit and gastric emptying in familial dysautonomia.

Gastroesophageal dysfunction is a major cause of morbidity and mortality in patients with familial dysautonomia (FD). Most studies evaluating esophageal and gastric function in FD patients are either insensitive or invasive. Thus we have used a "milk" scan to quantitate abnormalities in esophageal transit and gastric emptying, while searching for gastroesophageal reflux and aspiration in these patients. The quantitative scintigraphic evaluation was performed in 35 patients with FD, 10 of whom were studied after fundoplication, pyloroplasty and gastrostomy. A prolonged esophageal transit time, ranging from 8 s to more than 60 s duration, was demonstrated in 11 patients. Gastroesophageal reflux was detected in 26 patients. In 16 patients delayed gastric emptying ranging from 63-94% was detected at 30 min, and in 13 patients delayed emptying ranging from 37-86% was observed at 120 min. Pulmonary aspiration was detected in 8 non-operated patients, four of whom had abnormal gastric emptying. The scintigraphic analysis of both esophageal transit and gastric emptying in familial dysautonomia is presented, and its role in evaluation and management of these patients discussed.