{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T06:40:04Z","timestamp":1756363204034,"version":"3.44.0"},"reference-count":6,"publisher":"BMJ","issue":"2","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2024,2,12]]},"published-print":{"date-parts":[[2024,2]]},"abstract":"<jats:p>An infant was admitted with suspected postinfectious malabsorption with watery diarrhoea, fever and failure to thrive. She had dehydration, acute kidney injury and metabolic acidosis, which were corrected with intravenous fluids and managed with empiric antibiotics and prophylactic antifungals. She also developed <jats:italic>Escherichia coli<\/jats:italic> sepsis, meningitis and Candida skin infections during hospitalisation, which were treated according to the culture reports. Intrauterine growth restriction, woolly hair and a broad nasal bridge with chronic refractory diarrhoea prompted genetic testing to rule out syndromic diarrhoea. Whole-exome sequencing revealed a pathogenic compound heterozygous mutation causing trichohepatoenteric syndrome. She succumbed to severe infections at 80 days of life. The condition is rare, and no established guidelines or specific treatments exist; the focus is to promote optimal growth through parenteral nutrition, elemental formula and infection control. Early suspicion and molecular genetic testing can help reduce the time to diagnosis, treatment and genetic counselling.<\/jats:p>","DOI":"10.1136\/bcr-2023-257746","type":"journal-article","created":{"date-parts":[[2024,2,21]],"date-time":"2024-02-21T12:50:27Z","timestamp":1708519827000},"page":"e257746","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Chronic diarrhoea due to trichohepatoenteric syndrome (THES) in an infant"],"prefix":"10.1136","volume":"17","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6737-2023","authenticated-orcid":false,"given":"Shruthi Kumar","family":"Bharadwaj","sequence":"first","affiliation":[{"name":"Neonatology, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sheila Samanta","family":"Mathai","sequence":"additional","affiliation":[{"name":"Neonatology, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Smriti","family":"Bhargava","sequence":"additional","affiliation":[{"name":"Pediatrics, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leslie Edward S","family":"Lewis","sequence":"additional","affiliation":[{"name":"Pediatrics, Manipal Academy of Higher Education, Manipal, Karnataka, India"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2024,2,21]]},"reference":[{"key":"2025082722594739000_17.2.e257746.1","doi-asserted-by":"publisher","DOI":"10.5582\/irdr.2017.01040"},{"key":"2025082722594739000_17.2.e257746.2","unstructured":"Fabre A , Bourgeois P , Chaix C , et al . Trichohepatoenteric syndrome. GeneReviews\u00ae January 11, 2018."},{"key":"2025082722594739000_17.2.e257746.3","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.62354"},{"key":"2025082722594739000_17.2.e257746.4","unstructured":"Citation N , Fabre A , Bourgeois P , et al . Trichohepatoenteric syndrome. 2018:1993\u20132023."},{"key":"2025082722594739000_17.2.e257746.5","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(94)70118-0"},{"key":"2025082722594739000_17.2.e257746.6","doi-asserted-by":"publisher","DOI":"10.1136\/jmedgenet-2014-102624"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2023-257746","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T05:59:53Z","timestamp":1756360793000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2023-257746"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,2]]},"references-count":6,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,2,21]]},"published-print":{"date-parts":[[2024,2]]}},"alternative-id":["10.1136\/bcr-2023-257746"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2023-257746","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2024,2]]}}}