Open AccessAtypical late-onset severe gastritis in immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome: 2 case reports
Author(s) -
Youhong Fang,
Youyou Luo,
Jingan Lou,
Jie Chen
Publication year - 2021
Publication title -
medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.59
H-Index - 148
eISSN - 1536-5964
pISSN - 0025-7974
DOI - 10.1097/md.0000000000024318
Subject(s) - medicine , immune dysregulation , gastritis , enteropathy , failure to thrive , gastroenterology , protein losing enteropathy , esophagogastroduodenoscopy , pediatrics , helicobacter pylori , disease , endoscopy
Rationale: The immune dysregulation, polyendocrinopathy, enteropathy, and X-linked (IPEX) syndrome is a rare disorder that most often manifests in the early stages of life. IPEX syndrome with a late onset, presenting with severe gastritis has rarely been reported. Patient concerns: Two male adolescents presented with recurrent vomiting, severe malnutrition, and growth retardation due to severe gastritis. Diagnoses: Esophagogastroduodenoscopy of the 2 patients revealed rare presentations of severe gastritis with multiple ulcers and stenosis of the pylorus. Next-generation sequencing revealed 2 novel variants in gene FOXP3 in the patients who were diagnosed with the IPEX syndrome. Interventions: Both patients were treated with a high calorie formular enteral nutritional therapy. In addition, the pylorus of patient 1 was enlarged by balloon dilation, while patient 2 was treated with mercaptopurine and low dose prednisone. Outcomes: Symptoms and nutritional status of the patients improved after treatment. Lessons: Chronic severe gastritis with stenosis of the pylorus could be an atypical manifestation of the IPEX syndrome. The use of next-generation sequencing is highly suitable for the diagnosis of atypical IPEX syndromes.