RESUMO
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.
RESUMO
Submucosal tunneling endoscopic technique can be useful in obtaining esophageal muscle specimens in patients with esophageal motility disorders. Here, we describe the case of a patient with systemic sclerosis. Histological verification of the esophageal involvement in the pathological process was required for the treatment. There were no intra- and post- operational complications.
