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.
RESUMO
Achalasia is an extremely rare pathology in children. Peroral endoscopic myotomy (POEM) is the gold standard for the surgical treatment of achalasia in adults, but only a limited number of cases of achalasia treatment using POEM in children have been published in the literature. Sometimes, high-resolution manometry signs of achalasia can mimic diffuse esophageal leiomyoma. This case report represents the first known successful performance of POEM on a 15-year-old female with diffuse thickening of the esophagus with signs and symptoms of achalasia and suspicion for Alport syndrome associated with diffuse esophageal leiomyoma.