SCINTIGRAPHIC EVALUATION OF ESOPHAGEAL TRANSIT AND GASTRIC-EMPTYING IN FAMILIAL DYSAUTONOMIA

Gastroesophageal dysfunction is a major cause of morbidity and mortali ty in patients with familial dysautonomia (FD). Most studies evaluatin g esophageal and gastric function in FD patients are either insensitiv e or invasive. Thus we have used a ''milk'' scan to quantitate abnorma lities in esophageal transit and gastric emptying, while searching for gastroesophageal reflux and aspiration in these patients. The quantit ative scintigraphic evaluation was performed in 35 patients with FD, 1 0 of whom were studied after fundoplication, pyloroplasty and gastrost omy. A prolonged esophageal transit time, ranging from 8 s to more tha n 60 s duration, was demonstrated in 11 patients. Gastroesophageal ref lux was detected in 26 patients. In 16 patients delayed gastric emptyi ng ranging from 63-94% was detected at 30 min, and in 13 patients dela yed emptying ranging from 37-86% was observed at 120 min. Pulmonary as piration was detected in 8 non-operated patients, four of whom had abn ormal gastric emptying. The scintigraphic analysis of both esophageal transit and gastric emptying in familial dysautonomia is presented, an d its role in evaluation and management of these patients discussed.