• Youhong Fang, Youyou Luo, Jingan Lou, and Jie Chen.
• Department of Gastroenterology, The Children's Hospital, Zhejiang University School of Medicine, National Clinical Research Center for Child Health, 3333 Bin Sheng Road, Hangzhou 310052, Zhejiang Province, China.
• Medicine (Baltimore). 2021 Jan 22; 100 (3): e24318.

RationaleThe 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 ConcernsTwo male adolescents presented with recurrent vomiting, severe malnutrition, and growth retardation due to severe gastritis.DiagnosesEsophagogastroduodenoscopy 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.InterventionsBoth 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.OutcomesSymptoms and nutritional status of the patients improved after treatment.LessonsChronic 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.Copyright © 2021 the Author(s). Published by Wolters Kluwer Health, Inc.

37 keywords...

hide…