{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T04:46:42Z","timestamp":1782362802922,"version":"3.54.5"},"reference-count":27,"publisher":"MDPI AG","issue":"13","license":[{"start":{"date-parts":[[2026,6,24]],"date-time":"2026-06-24T00:00:00Z","timestamp":1782259200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JCM"],"abstract":"<jats:p>Objective: Pediatric intestinal pseudo-obstruction (PIPO) is a rare, severe, and heterogeneous gastrointestinal motility disorder associated with intestinal failure, recurrent hospitalizations, and significant morbidity and mortality. This study aimed to evaluate the clinical features, management strategies, and long-term outcomes of children diagnosed with PIPO at a tertiary referral center. Methods: This retrospective single-center study included pediatric patients diagnosed with PIPO between 2011 and 2025. Diagnosis was established according to ESPGHAN consensus criteria. Demographic characteristics, clinical presentation, genetic findings, nutritional support, surgical interventions, intestinal transplantation, and long-term outcomes were retrospectively reviewed. Results: A total of 32 patients with PIPO were included, of whom 56.2% were female and 43.7% had early-onset disease. Genetic testing was performed in 22 of 32 patients; clinically significant variants were identified in 16 (50% of the total cohort), most commonly ACTG2 mutations. Prior abdominal surgery before referral was present in 84.3% of patients. During follow-up, 56% remained parenteral nutrition dependent, five patients underwent intestinal transplantation, and the overall mortality rate was 21.8%. Conclusions: PIPO is a highly heterogeneous disorder associated with substantial morbidity, prolonged nutritional support requirements, repeated surgical interventions, and significant mortality. Early diagnosis, genetic evaluation, multidisciplinary management, and timely referral to specialized intestinal failure and transplantation centres are likely to support more individualised management and may help prevent avoidable complications in affected children.<\/jats:p>","DOI":"10.3390\/jcm15134900","type":"journal-article","created":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T03:20:21Z","timestamp":1782357621000},"page":"4900","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Long-Term Outcomes and Clinical Course of Pediatric Intestinal Pseudo-Obstruction: A Retrospective Single-Center Cohort Study"],"prefix":"10.3390","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-7122-3979","authenticated-orcid":false,"given":"Kardelen","family":"Akin","sequence":"first","affiliation":[{"name":"Department of Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Izmir Katip Celebi University, \u0130zmir City Hospital, Izmir 35620, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3774-3994","authenticated-orcid":false,"given":"Serenay","family":"Alaca","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Izmir Katip Celebi University, \u0130zmir City Hospital, Izmir 35620, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7657-8007","authenticated-orcid":false,"given":"Bet\u00fcl","family":"Aksoy","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Izmir Katip Celebi University, \u0130zmir City Hospital, Izmir 35620, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"\u015eenay","family":"Onba\u015f\u0131 Karaba\u011f","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Izmir Katip Celebi University, \u0130zmir City Hospital, Izmir 35620, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sinem","family":"Kahveci","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Izmir Katip Celebi University, \u0130zmir City Hospital, Izmir 35620, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yeliz","family":"\u00c7a\u011fan Appak","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Izmir Katip Celebi University, \u0130zmir City Hospital, Izmir 35620, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3827-2039","authenticated-orcid":false,"given":"Masallah","family":"Baran","sequence":"additional","affiliation":[{"name":"Department of Pediatric Gastroenterology, Hepatology and Nutrition, Faculty of Medicine, Izmir Katip Celebi University, \u0130zmir City Hospital, Izmir 35620, T\u00fcrkiye"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2026,6,24]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","unstructured":"Turcotte, M.-C., and Faure, C. (2022). Pediatric Intestinal Pseudo-Obstruction: Progress and Challenges. Front. Pediatr., 10.","DOI":"10.3389\/fped.2022.837462"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"101765","DOI":"10.1016\/j.bpg.2021.101765","article-title":"Hirschsprung disease and Paediatric Intestinal Pseudo-obstruction","volume":"56\u201357","author":"Chanpong","year":"2022","journal-title":"Best Pract. Res. Clin. Gastroenterol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"9683","DOI":"10.3748\/wjg.v21.i33.9683","article-title":"Pediatric intestinal motility disorders","volume":"21","author":"Gfroerer","year":"2015","journal-title":"World J. Gastroenterol."},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"991","DOI":"10.1097\/MPG.0000000000001982","article-title":"Paediatric Intestinal Pseudo-obstruction: Evidence and Consensus-based Recommendations from an ESPGHAN-Led Expert Group","volume":"66","author":"Thapar","year":"2018","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"555","DOI":"10.1177\/02537176211046525","article-title":"Z Scores, Standard Scores, and Composite Test Scores Explained","volume":"43","author":"Andrade","year":"2021","journal-title":"Indian J. Psychol. Med."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1016\/j.clnu.2016.09.004","article-title":"ESPEN guidelines on definitions and terminology of clinical nutrition","volume":"36","author":"Cederholm","year":"2017","journal-title":"Clin. Nutr."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1097\/MPG.0000000000000586","article-title":"Intestinal failure-associated liver disease: A position paper of the ESPGHAN Working Group of Intestinal Failure and Intestinal Transplantation","volume":"60","author":"Lacaille","year":"2015","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Sankararaman, S., James, R.R., El-Amaireh, B., Adler, A., Radhakrishnan, K., and Velayuthan, S. (2026). Review of nutrition management of pediatric intestinal pseudo-obstruction. Nutr. Clin. Pract., Epub ahead of printing.","DOI":"10.1002\/ncp.70115"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"104","DOI":"10.5056\/jnm20243","article-title":"ACTG2 Variants in Pediatric Chronic Intestinal Pseudo-obstruction With Megacystis","volume":"28","author":"Hahn","year":"2022","journal-title":"J. Neurogastroenterol. Motil."},{"key":"ref_10","unstructured":"Adam, M.P., Bick, S., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., and Amemiya, A. (1993\u20132026). ACTG2 Visceral Myopathy. 2015 Jun 11 [updated 2021 May 6]. GeneReviews\u00ae [Internet], University of Washington."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"384","DOI":"10.1097\/MPG.0000000000001608","article-title":"Diagnosis of Chronic Intestinal Pseudo-obstruction and Megacystis by Sequencing the ACTG2 Gene","volume":"65","author":"Milunsky","year":"2017","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1007\/s00439-002-0765-8","article-title":"SOX10 mutations in chronic intestinal pseudo-obstruction suggest a complex physiopathological mechanism","volume":"111","author":"Pingault","year":"2002","journal-title":"Hum. Genet."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"113","DOI":"10.5582\/irdr.2022.01060","article-title":"Smooth muscle motility disorder phenotypes: A systematic review of cases associated with seven pathogenic genes (ACTG2, MYH11, FLNA, MYLK, RAD21, MYL9 and LMOD1)","volume":"11","author":"Fournier","year":"2022","journal-title":"Intractable Rare Dis. Res."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"70","DOI":"10.1007\/s11894-019-0737-y","article-title":"Pediatric Intestinal Pseudo-obstruction in the Era of Genetic Sequencing","volume":"21","author":"Gamboa","year":"2019","journal-title":"Curr. Gastroenterol. Rep."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"G919","DOI":"10.1152\/ajpgi.00066.2021","article-title":"Visceral myopathy: Clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton","volume":"320","author":"Hashmi","year":"2021","journal-title":"Am. J. Physiol. Gastrointest. Liver Physiol."},{"key":"ref_16","doi-asserted-by":"crossref","unstructured":"Ko, D., Yang, H.B., Youn, J., and Kim, H.Y. (2021). Clinical Outcomes of Pediatric Chronic Intestinal Pseudo-Obstruction. J. Clin. Med., 10.","DOI":"10.3390\/jcm10112376"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"2298","DOI":"10.1023\/A:1020199614102","article-title":"Long-term outcome of congenital intestinal pseudoobstruction","volume":"47","author":"Mousa","year":"2002","journal-title":"Dig. Dis. Sci."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1111\/j.1365-2982.2007.00902.x","article-title":"Chronic intestinal pseudo-obstruction: Manifestations, natural history and management","volume":"19","author":"Stanghellini","year":"2007","journal-title":"Neurogastroenterol. Motil."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1016\/j.jpedsurg.2012.11.010","article-title":"Surgical treatment and outcomes of severe pediatric intestinal motility disorders requiring parenteral nutrition","volume":"48","author":"Pakarinen","year":"2013","journal-title":"J. Pediatr. Surg."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1002\/jpn3.12400","article-title":"Incidence, diagnostics, therapeutic management and outcomes of paediatric intestinal pseudo-obstruction in the Netherlands: A 20-year retrospective cohort study","volume":"80","author":"Demirok","year":"2025","journal-title":"J. Pediatr. Gastroenterol. Nutr."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"596","DOI":"10.5152\/tjg.2020.19233","article-title":"Challenges in management and prognosis of pediatric intestinal pseudo-obstruction","volume":"31","author":"Soyer","year":"2020","journal-title":"Turk. J. Gastroenterol."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"e680","DOI":"10.1111\/nmo.12191","article-title":"Non-transplantation surgical approach for chronic intestinal pseudo-obstruction: Analysis of 63 adult consecutive cases","volume":"25","author":"Sabbagh","year":"2013","journal-title":"Neurogastroenterol. Motil."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"230","DOI":"10.1097\/MOG.0000000000000630","article-title":"Update on chronic intestinal pseudo-obstruction","volume":"36","author":"Zenzeri","year":"2020","journal-title":"Curr. Opin. Gastroenterol."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"e14756","DOI":"10.1111\/petr.14756","article-title":"From intestinal failure to transplantation: Review on the current need for transplant indications under multidisciplinary transplant programs worldwide","volume":"28","author":"Raghu","year":"2024","journal-title":"Pediatr. Transplant."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"2619","DOI":"10.1007\/s00431-021-04365-9","article-title":"Paediatric intestinal pseudo-obstruction: A scoping review","volume":"181","author":"Nham","year":"2022","journal-title":"Eur. J. Pediatr."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"e12945","DOI":"10.1111\/nmo.12945","article-title":"Chronic intestinal pseudo-obstruction in children and adults: Diagnosis and therapeutic options","volume":"29","author":"Lauro","year":"2017","journal-title":"Neurogastroenterol. Motil."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"100071","DOI":"10.1016\/j.intf.2025.100071","article-title":"Quality of life in pediatric intestinal failure: A scoping review","volume":"6","author":"Wasif","year":"2025","journal-title":"Intest. Fail."}],"container-title":["Journal of Clinical Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2077-0383\/15\/13\/4900\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,25]],"date-time":"2026-06-25T04:00:42Z","timestamp":1782360042000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2077-0383\/15\/13\/4900"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,24]]},"references-count":27,"journal-issue":{"issue":"13","published-online":{"date-parts":[[2026,7]]}},"alternative-id":["jcm15134900"],"URL":"https:\/\/doi.org\/10.3390\/jcm15134900","relation":{},"ISSN":["2077-0383"],"issn-type":[{"value":"2077-0383","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,24]]}}}