Abstract
Allgrove syndrome, also known as Triple A syndrome, is a rare autosomal recessive genetic disease characterized by three signs: esophageal achalasia, adrenocorticotropic hormone refractoriness, and alacrima. A 31-year-old male presented to our hospital for treatment of difficulty swallowing caused by esophageal achalasia. Because he had complicating alacrima, a neurologic disease, and a family history of consanguineous marriage, a genetic neurologic disease was suspected. Then, a mutation in the achalasia–addisonianism–alacrima syndrome gene was identified. With the diagnosis of Allgrove syndrome, a per-oral endoscopic myotomy (POEM) was performed for esophageal achalasia. After the POEM, the symptoms and the esophageal pressure findings ameliorated quickly, with no recurrence noted throughout a follow-up of more than 1 year. Here, we report the first case of POEM performed for esophageal achalasia in Allgrove syndrome.
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Acknowledgements
The present authors thank Dr. Shunsuke Kobayashi in the Department of Neurology of Fukushima Medical University, and Dr. Hiroshi Takashima, Dr. Akihiro Hashiguchi, and Dr. Yujiro Higuchi in the Department of Neurology and Geriatrics of the Kagoshima University Graduate School of Medical and Dental Sciences for performing the neurologic and genetic tests. We also wish to express our deep appreciation to all endoscopy medical staff of Fukushima Medical University Hospital for their assistance with endoscopic procedures.
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JN performed POEM procedure supervised by HI. JN and TH wrote the manuscript. TH, KW, and HK served as assistant of POEM procedure. TH, KW, HK, TT, RS, MS, NK, YW HA, MT, and YS performed preoperative and postoperative management. KO and HO advised the manuscript.
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The authors declare no conflict of interest for this article.
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All procedures followed have been performed in accordance with the ethical standards laid down in the 1964 Declaration of Helsinki and its later amendments.
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Informed consent was obtained from this patient for being included in the paper.
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Nakamura, J., Hikichi, T., Inoue, H. et al. Per-oral endoscopic myotomy for esophageal achalasia in a case of Allgrove syndrome. Clin J Gastroenterol 11, 273–277 (2018). https://doi.org/10.1007/s12328-018-0819-7
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DOI: https://doi.org/10.1007/s12328-018-0819-7