{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,5]],"date-time":"2026-07-05T05:56:36Z","timestamp":1783230996647,"version":"3.54.6"},"reference-count":22,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:00:00Z","timestamp":1756339200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["JIMD Reports"],"published-print":{"date-parts":[[2025,9]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p>We report the case of an 11\u2010year\u2010old girl who developed hepatopulmonary syndrome (HPS) as a rare complication of Zellweger spectrum disorder and was successfully treated with liver transplantation. Our patient presented with neonatal sensorineural hearing loss. Muscular hypotonia, global developmental delay, and pigmentary retinopathy in infancy led to a diagnosis of peroxisomal biogenesis disorder due to compound heterozygous <jats:italic>PEX1<\/jats:italic> variants. Despite feeding disorder, poor weight gain, mild liver disease with subclinical coagulopathy, she had a relatively uneventful course, attaining developmental milestones till 7\u2009years of age, when she was noted to have persistent central cyanosis (TcSO<jats:sub>2<\/jats:sub> 72%) with poor oxygen response. Echocardiogram and CT chest were normal. Liver ultrasound demonstrated mild portal hypertension with a small spleen. An ultrasound bubble test established extracardiac right\u2010left shunting, and perfusion scintigraphy confirmed the diagnosis of HPS. Angiography showed increased portal pressure with normal right atrial pressures, ruling out porto\u2010pulmonary hypertension. Due to the limited prognosis of HPS and inadequate oxygenation on 2\u2009L\/min oxygen supplementation, after multidisciplinary discussion, a decision was made to proceed with an orthotopic liver transplant (OLT). Seven months later, she underwent OLT, following which her saturation normalized. At age 11\u2009years, she continues to be clinically stable without oxygen supplementation. HPS being a rare complication of liver disease, is not easily recognized in the pediatric population. OLT proved beneficial in this child with an intermediately severe disorder of peroxisomal biogenesis.<\/jats:p>","DOI":"10.1002\/jmd2.70026","type":"journal-article","created":{"date-parts":[[2025,8,29]],"date-time":"2025-08-29T00:00:27Z","timestamp":1756425627000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":1,"title":["Successful Treatment of Severe Hepatopulmonary Syndrome as a Rare Complication of Zellweger Spectrum Disorder"],"prefix":"10.1002","volume":"66","author":[{"given":"Riya Mary","family":"Tharakan","sequence":"first","affiliation":[{"name":"Manchester Centre for Genomic Medicine, St Mary's Hospital Manchester University NHS Foundation Trust, Health Innovation Manchester  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sanjay","family":"Rajwal","sequence":"additional","affiliation":[{"name":"Paediatric Liver Unit Leeds Children's Hospital  Leeds UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0961-2508","authenticated-orcid":false,"given":"Bernd C.","family":"Schwahn","sequence":"additional","affiliation":[{"name":"Manchester Centre for Genomic Medicine, St Mary's Hospital Manchester University NHS Foundation Trust, Health Innovation Manchester  Manchester UK"},{"name":"Division of Evolution &amp; Genomic Sciences, School of Biological Sciences, Faculty of Biology, Medicine and Health University of Manchester  Manchester UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2025,8,28]]},"reference":[{"key":"e_1_2_10_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgmr.2020.100694"},{"key":"e_1_2_10_3_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms20153756"},{"key":"e_1_2_10_4_1","first-page":"1993","volume-title":"GeneReviews","author":"Steinberg S.","year":"2003"},{"key":"e_1_2_10_5_1","volume-title":"StatPearls","author":"Elumalai V.","year":"2024"},{"key":"e_1_2_10_6_1","doi-asserted-by":"publisher","DOI":"10.2174\/138920012803762747"},{"key":"e_1_2_10_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41598-021-83785-x"},{"key":"e_1_2_10_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16107-2"},{"key":"e_1_2_10_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra0707185"},{"key":"e_1_2_10_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.paed.2015.02.002"},{"key":"e_1_2_10_11_1","doi-asserted-by":"publisher","DOI":"10.3748\/wjg.v20.i10.2586"},{"key":"e_1_2_10_12_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2007-1075"},{"key":"e_1_2_10_13_1","doi-asserted-by":"publisher","DOI":"10.1097\/MEG.0000000000001207"},{"key":"e_1_2_10_14_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005599903632"},{"key":"e_1_2_10_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.bbadis.2012.04.006"},{"key":"e_1_2_10_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2017.12.068"},{"key":"e_1_2_10_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2013.12.055"},{"issue":"4","key":"e_1_2_10_18_1","article-title":"Pulse Oximeter Oxygen Saturation in Prediction of Arterial Oxygen Saturation in Liver Transplant Candidates","volume":"14","author":"Ghayumi S. 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