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Alport–leiomyomatosis syndrome requiring subtotal esophagectomy for refractory gastroesophageal reflux disease after childhood partial esophagogastrectomy: a case report

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Abstract

Alport–leiomyomatosis syndrome is an extremely rare condition occurring at a young age in which Alport syndrome coexists with diffuse leiomyomatosis of the digestive tract (primarily the esophagus). Most patients with diffuse esophageal leiomyomatosis require esophagectomy of variable extents. A 20-year-old man with Alport–leiomyomatosis syndrome was diagnosed with dysphasia and hematuria in childhood. Although he underwent partial esophagogastrectomy at 8 years of age, extremely severe gastroesophageal reflux symptoms were noted postoperatively. He was diagnosed with refractory severe reflux esophagitis associated with diffuse leiomyomatosis and esophagogastric anastomosis, for which he underwent subtotal esophagectomy, gastric tube reconstruction, and esophagogastric anastomosis in the left neck. The postoperative course was generally good, and he had no postoperative reflux symptoms. To achieve long-term control of symptoms, the lesion must be removed completely; nevertheless, unnecessarily extensive esophagectomy should be avoided.

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Authors and Affiliations

  1. Department of Gastroenterological Surgery, Saitama Medical University International Medical Center, Hidaka, Japan

    Junya Aoyama, Yutaka Miyawaki, Takuya Kato, Naoto Fujiwara, Hirofumi Sugita, Hiroshi Sato, Shinichi Sakuramoto & Shigeki Yamaguchi

  2. Department of Pathology, Saitama Medical University International Medical Center, Hidaka, Japan

    Masanori Yasuda

Authors
  1. Junya Aoyama
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  2. Yutaka Miyawaki
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  3. Takuya Kato
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  4. Naoto Fujiwara
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  5. Hirofumi Sugita
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  6. Hiroshi Sato
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  7. Masanori Yasuda
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  8. Shinichi Sakuramoto
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  9. Shigeki Yamaguchi
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Correspondence to Yutaka Miyawaki.

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Conflict of interest

Shigeki Yamaguchi received honoraria from Johnson & Johnson, Covidien Japan Inc., Terumo Corp., and Chugai Pharmaceutical Co. Ltd., and received a research grant from Sysmex Corp.

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Aoyama, J., Miyawaki, Y., Kato, T. et al. Alport–leiomyomatosis syndrome requiring subtotal esophagectomy for refractory gastroesophageal reflux disease after childhood partial esophagogastrectomy: a case report. Gen Thorac Cardiovasc Surg 68, 199–203 (2020). https://doi.org/10.1007/s11748-019-01255-8

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