BACKGROUND Achalasia is a primary esophageal motility disease characterized by impairment of normal esophageal peristalsis and absence of relaxation of the lower esophageal sphincter.Sometimes is can be a part of some...BACKGROUND Achalasia is a primary esophageal motility disease characterized by impairment of normal esophageal peristalsis and absence of relaxation of the lower esophageal sphincter.Sometimes is can be a part of some genetic disorders.One of the causes of gastrointestinal motility disorders,including achalasia,is mitochondrial defects.CASE SUMMARY We report about a pregnant woman with a history of symptoms associated with inherited mitochondrial disease,which was confirmed by genetic tests,and who was treated via peroral endoscopic myotomy.CONCLUSION Peroral endoscopic myotomy is possible treatment option for a pregnant woman with achalasia caused by mitochondrial disease.展开更多
文摘BACKGROUND Achalasia is a primary esophageal motility disease characterized by impairment of normal esophageal peristalsis and absence of relaxation of the lower esophageal sphincter.Sometimes is can be a part of some genetic disorders.One of the causes of gastrointestinal motility disorders,including achalasia,is mitochondrial defects.CASE SUMMARY We report about a pregnant woman with a history of symptoms associated with inherited mitochondrial disease,which was confirmed by genetic tests,and who was treated via peroral endoscopic myotomy.CONCLUSION Peroral endoscopic myotomy is possible treatment option for a pregnant woman with achalasia caused by mitochondrial disease.
