Case Report
Copyright ©The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Gastrointest Endosc. May 16, 2021; 13(5): 155-160
Published online May 16, 2021. doi: 10.4253/wjge.v13.i5.155
Peroral endoscopic myotomy in a pregnant woman diagnosed with mitochondrial disease: A case report
Alexander A Smirnov, Maya M Kiriltseva, Mariya E Lyubchenko, Vladimir D Nazarov, Anna V Botina, Aleksandr N Burakov, Sergey V Lapin
Alexander A Smirnov, Maya M Kiriltseva, Mariya E Lyubchenko, Aleksandr N Burakov, Department of Endoscopy, Pavlov First Saint Petersburg State Medical University, Saint Petersburg 197022, Russia
Vladimir D Nazarov, Sergey V Lapin, Center for Molecular Medicine, Pavlov First Saint Petersburg State Medical University, Saint Petersburg 197022, Russia
Anna V Botina, Department of Pathology, Pavlov First Saint Petersburg State Medical University, Saint Petersburg 197022, Russia
Author contributions: Smirnov AA and Lyubchenko ME performed peroral endoscopic myotomy, reviewed the literature and contributed to manuscript drafting; Kiriltseva MM performed the gastroenterology consultation; Burakov AN and Kiriltseva MM reviewed the literature and contributed to manuscript drafting; Nazarov VD and Lapin SV performed the genetic tests and interpretation and contributed to manuscript drafting; Botina AV provided the histology report; Burakov AN and Kiriltseva MM were responsible for the revision of the manuscript for important intellectual content; all authors issued final approval for the version to be submitted.
Informed consent statement: All study participants, or their legal guardian, provided informed written consent prior to study enrollment.
Conflict-of-interest statement: The authors declare no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
Corresponding author: Aleksandr N Burakov, Research Fellow, Department of Endoscopy, Pavlov First Saint Petersburg State Medical University, L’va Tolstogo Str. 6-8, Saint Petersburg 197022, Russia. aleksandr.medox@yandex.ru
Received: December 19, 2020
Peer-review started: December 19, 2020
First decision: February 15, 2021
Revised: March 6, 2021
Accepted: April 26, 2021
Article in press: April 26, 2021
Published online: May 16, 2021
Processing time: 131 Days and 7.7 Hours
Abstract
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.

Keywords: Mitochondrial disease; Pregnancy; Esophagus; Peroral endoscopic myotomy; Achalasia; Biopsy; Case report

Core Tip: Achalasia is a primary esophageal motility disease. Sometimes is can be a part of some genetic disorders. One of the causes of gastrointestinal motility disorders, including achalasia, is mitochondrial defects. 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 successfully treated via peroral endoscopic myotomy.