Primary immotile oesophagus in young patients

Since 1984 we have identified 14 patients under the age of 45 years with severe, unexplained loss of oesophageal motility. The ages at presentation ranged from 20 to 42 years and nine were female. Barium swallow was normal in eight patients and showed minor abnormalities in six. Twenty-four hour pH studies were normal in all patients and the only endoscopic abnormality was minimal oesophagitis in three. Upper oesophageal sphincter resting pressures and cervical motility were normal except in one patient. Motility in the body of the oesophagus was severely reduced in all patients with a mean peristaltic amplitude of 10 mmHg. Lower oesophageal sphincter resting pressures were reduced in 11 patients and normal in three, with incomplete sphincter relaxation in three. All patients have been followed up for a minimum of 3 years without progression of their symptoms or the development of a secondary cause. Six patients have undergone repeat manometry and pH studies with no changes. We conclude that there is a group of young patients who appear to undergo severe primary loss of oesophageal motility for reasons that have not yet been identified. It is important to identify these patients so that inappropriate surgery can be avoided.