Congenital Cricopharyngeal Achalasia

Abstract

Fifteen infants with congenital cricopharyngeal achalasia are reviewed. Although most of the patients had symptoms at birth, the diagnosis was frequently not confirmed until later in the first year of life. While four of the infants had only cricopharyngeal achalasia, 11 had associated diseases related to the central nervous system. Those patients without associated diseases improved spontaneously with conservative management; most of the infants with other abnormalities also improved, although their clinical progress was slower and more complicated. In three of the patients, the symptoms were persistent and there were two deaths related to associated diseases. Cricopharyngeal myotomy was performed on two children with only moderate improvement in symptoms. Congenital cricopharyngeal achalasia is more common than formerly recognized. When suspected, an esophagram with tele- or cineradiography is essential to confirm the diagnosis. Esophageal motility studies will quantify changes and also evaluate lower esophageal dysfunction not easily identified on esophagrams.