Clinical features and genetic analysis of a child with late-onset immune dysregulation, polyendocrinopathy, enteropathy, X-Linked syndrome / 中华医学遗传学杂志

OBJECTIVE@#To report on the clinical features and result of genetic testing for a child featuring immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome.@*METHODS@#Clinical records, genetic testing, laboratory investigation and treatment of the child were summarized in addition with a comprehensive review of the literature.@*RESULTS@#The 3-year-old boy was administered due to intractable diarrhea, recurrent infections, liver dysfunction and failure to thrive, though no diabetes or skin disorder was observed. Laboratory testing showed elevated liver enzymes and total IgE, decreased albumin and electrolyte imbalance. Gastrointestinal endoscopy revealed erosion and granules in the duodenum, and edema in the terminal ileum and colon. Biopsies showed villous atrophy in the duodenum and terminal ileum. Genetic testing revealed that the patient has carried a missense c.1087A>G (p.I363V) variant in the exon 10 of the FOXP3 gene. He was treated with enteral and parenteral nutrition, anti infection and Sirolimus, and was waiting for hemopoietic stem cell transplantation.@*CONCLUSION@#Although IPEX syndrome usually occur during infancy, it should not be ruled out solely based on the age, and its presentation can be variable. For male children with refractory diarrhea, autoimmune disorder and growth retardation, the diagnosis should be suspected and confirmed by genetic testing.

Endoscopic features and management of acquired tracheoesophageal fistula caused by esophageal foreign bodies in children / 中华实用儿科临床杂志

Objective:To investigate the clinical characteristics, endoscopic features and management of acquired tracheoesophageal fistula (TEF) by esophageal foreign bodies in children.Methods:The clinical data and follow-up data of 21 children with acquired TEF who were treated in Children′s Hospital Affiliated to Zhengzhou University from January 2008 to January 2019 were retrospectively analyzed.Results:A total of 21 cases with esophageal foreign bodies were button batteries, irregular iron sheets, game coins, jujube seed, animal bone sheets, and fish thorn.The statistical results suggested that the cases of button batteries were 7 cases (33.33%), 4 cases of jujube pit (19.05%), 3 cases of irregular iron (14.29%) and 3 cases of animal bone (14.29%), 2 cases of game coin (9.52%), 2 cases of fish thorn (9.52%). All foreign bodies were removed by endoscopy.Esophageal perforation with TEF was discovered in 17 cases (80.95%) during the operation.Esophageal perforation with TEF was found in 4 cases (19.05%) within 2 week after the operation, and no death occurred.A total of 13 case fistula size ≤5 mm (61.90%), 4 case fistula size>5 mm and ≤10 mm (19.05%) and 4 case fistula size >10 mm (19.05%). The treatment methods included gastrointestinal decompression and nasojejunal nutrition tube support in 10 cases (47.61%), gastrostomy and jejunostomy in 4 cases (19.05%), surgical repair in 4 cases (19.05%) and endoscopic titanium clip suture in 3 cases (14.29%). Five cases (23.81%) were healed in 3 months, 6 cases (28.57%) in 5 months, 4 cases (19.05%) in 8 months, and 2 cases (9.52%) in 12 months.Conclusions:Acquired TEF in children are mostly caused by special foreign bodies embedded in the esophagus, and endoscopic management is effective for fistulas with less trauma.Appropriate operation and intervention should be taken as early as possible.