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<p>This report relates to two female children (identical twins) aged 13&#xa0;years, one of whom presented with dysphagia, vomiting, nasal regurgitation, and weight loss. The other twin, in history, also had similar symptoms. Esophagogastroduodenoscopy, barium swallow, and esophageal manometry suggested type I achalasia in the former; the other had type II achalasia cardia. Both gave a history of hyperpigmentation of knuckles, under eyes and elbows. Serum cortisol levels were low, with elevated ACTH levels in one, while the other had preserved adrenal function. Their mother gave a history that neither had shed tears since birth (Positive Schirmer’s test). Both successfully underwent peroral endoscopic myotomy and had good improvement in symptoms. At three months, both developed gastroesophageal reflux which needed antireflux mucosectomy in one and the other responded to medical therapy. This is a rare case of Allgrove syndrome with multisystem disease, and early recognition is vital to improving survival rates.</p>

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Peroral endoscopic myotomy followed by antireflux mucosectomy for gastroesophageal reflux in a rare case of Allgrove syndrome

  • 期刊论文

  • 发表日期：

    2025年12月4日

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  • Sanil Parekh,
  • Nagesh Kamat,
  • Swara Pendse,
  • Harika Chintakula,
  • Sehajad Vora,
  • Amit Maydeo

摘要

This report relates to two female children (identical twins) aged 13 years, one of whom presented with dysphagia, vomiting, nasal regurgitation, and weight loss. The other twin, in history, also had similar symptoms. Esophagogastroduodenoscopy, barium swallow, and esophageal manometry suggested type I achalasia in the former; the other had type II achalasia cardia. Both gave a history of hyperpigmentation of knuckles, under eyes and elbows. Serum cortisol levels were low, with elevated ACTH levels in one, while the other had preserved adrenal function. Their mother gave a history that neither had shed tears since birth (Positive Schirmer’s test). Both successfully underwent peroral endoscopic myotomy and had good improvement in symptoms. At three months, both developed gastroesophageal reflux which needed antireflux mucosectomy in one and the other responded to medical therapy. This is a rare case of Allgrove syndrome with multisystem disease, and early recognition is vital to improving survival rates.