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Successful Management of Secondary Achalasia in a Patient with Myotonic Dystrophy

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초록

Myotonic dystrophy (MD) is a systemic disease that affects any level of the gastrointestinal tract. Due to its rare occurrence, achalasia could be misdiagnosed due to symptoms being similar to gastroesophageal reflux (GERD). Moreover, there is no known appropriate treatment for achalasia in patients with MD. A 58-year-old man was diagnosed with type 1 MD. He complained of dyspepsia and chest pain, which showed no improvement even after administering GERD medication. Secondary achalasia was subsequently diagnosed after examining the lower esophageal sphincter by performing a video fluoroscopic-swallowing study (VFSS) and high-resolution manometry. Thereafter, the patient was successfully treated with balloon dilatation, and showed significant improvements in the symptoms. The patient remained well for 1 year. We report a rare case of secondary achalasia in an MD patient. Our study validates that VFSS might be useful for the early diagnosis of achalasia, and esophageal intervention (such as balloon dilatation) should be considered on confirmation of the affliction.

Abstract

Myotonic dystrophy (MD) is a systemic disease that affects any level of the gastrointestinal tract. Due to its rare occurrence, achalasia could be misdiagnosed due to symptoms being similar to gastroesophageal reflux (GERD). Moreover, there is no known appropriate treatment for achalasia in patients with MD. A 58-year-old man was diagnosed with type 1 MD. He complained of dyspepsia and chest pain, which showed no improvement even after administering GERD medication. Secondary achalasia was subsequently diagnosed after examining the lower esophageal sphincter by performing a video fluoroscopic-swallowing study (VFSS) and high-resolution manometry. Thereafter, the patient was successfully treated with balloon dilatation, and showed significant improvements in the symptoms. The patient remained well for 1 year. We report a rare case of secondary achalasia in an MD patient. Our study validates that VFSS might be useful for the early diagnosis of achalasia, and esophageal intervention (such as balloon dilatation) should be considered on confirmation of the affliction.

참고문헌 (6)

  1. Carlson DA, "High-resolution manometry in clinical practice", Gastroenterol Hepatol(N Y), 11, pp.374~384 (2015)
  2. Mario Costantini, "Esophageal motor function in patients with myotonic dystrophy", Digestive Diseases and Sciences, 41(10), pp.2032~2038 (1996), Springer Science and Business Media LLC[DOI]
  3. Modolell I, "Pharyngo-Esophageal Motility Disturbances in Patients with Myotonic Dystrophy", Scandinavian Journal of Gastroenterology, 34(9), pp.878~882 (1999), Informa UK Limited[DOI]
  4. Bellini M, "Gastrointestinal manifestations in myotonic muscular dystrophy", World Journal of Gastroenterology, 12(12), pp.1821~1828 (2006), Baishideng Publishing Group Inc[DOI]
  5. Hiroki Sato, "Achalasia in a Patient with Myotonic Dystrophy", Internal Medicine, 59(1), pp.67~68 (2020), Japanese Society of Internal Medicine[DOI]
  6. Ghazaleh S, "Combined achalasia and cricopharyngeal achalasia in a patient with type 1 myotonic dystrophy : a case report", Gastroenterol Hepatol Bed Bench, 13, pp.181~183 (2020)

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