BACKGROUND: The regulated ability of sphincters to relax allows adequate control of digestive transit. Relaxation of the lower esophageal sphincter (LES) is essential for esophageal emptying and, similarly, pyloric relaxation permits gastric emptying. When the relaxatory response of these sphincters is impaired, luminal transit is altered, as occurs in achalasia and hypertrophic pyloric stenosis. Nitric oxide (NO) has been identified as the main inhibitory neurotransmitter in both sphincteric regions. Moreover, the absence of NO synthase in the LES and the pylorus has been implicated in the pathogenesis of infantile hypertrophic pyloric stenosis (IHPS) and achalasia, respectively. CASE REPORT: We present the case of a 12-year-old boy diagnosed with these two different conditions attributed to NO absence: IHPS and achalasia. CONCLUSION: To our knowledge this is the first time that such an association has been reported. Whether IHPS and achalasia have been associated in this patient by chance or because they share common pathophysiological mechanisms remains speculative, but is a tantalizing dilemma.
BACKGROUND: The regulated ability of sphincters to relax allows adequate control of digestive transit. Relaxation of the lower esophageal sphincter (LES) is essential for esophageal emptying and, similarly, pyloric relaxation permits gastric emptying. When the relaxatory response of these sphincters is impaired, luminal transit is altered, as occurs in achalasia and hypertrophic pyloric stenosis. Nitric oxide (NO) has been identified as the main inhibitory neurotransmitter in both sphincteric regions. Moreover, the absence of NO synthase in the LES and the pylorus has been implicated in the pathogenesis of infantile hypertrophic pyloric stenosis (IHPS) and achalasia, respectively. CASE REPORT: We present the case of a 12-year-old boy diagnosed with these two different conditions attributed to NO absence: IHPS and achalasia. CONCLUSION: To our knowledge this is the first time that such an association has been reported. Whether IHPS and achalasia have been associated in this patient by chance or because they share common pathophysiological mechanisms remains speculative, but is a tantalizing dilemma.
Authors: Henning R Gockel; Johannes Schumacher; Ines Gockel; Hauke Lang; Thomas Haaf; Markus M Nöthen Journal: Hum Genet Date: 2010-08-11 Impact factor: 4.132