{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T23:33:33Z","timestamp":1777937613699,"version":"3.51.4"},"reference-count":18,"publisher":"SAGE Publications","issue":"4","license":[{"start":{"date-parts":[[2023,6,6]],"date-time":"2023-06-06T00:00:00Z","timestamp":1686009600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Pediatr Dev Pathol"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:p>Inherited syndromes of congenital enteropathy are rare, with many genetic causes described. Mutations of the AP1S1 gene results in the syndrome of intellectual disability, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma (IDEDNIK, formerly in the medical literature as MEDNIK). The clinicopathologic features of the enteropathy in IDEDNIK syndrome have not been fully explored. We describe a female infant who presented with metabolic acidosis, lethargy, and 14 watery stools per day. In the intensive care unit she required parenteral nutrition. She was found to have a novel homozygous pathogenic variant in the AP1S1 gene c.186T&gt;G (p.Y62*). Esophagogastroduodenoscopy and colonoscopy at 6\u2009months of age were grossly normal. However, histologic sections of the duodenum showed mild villous blunting and enterocytes with cytoplasmic vacuoles. CD10 immunostaining highlighted the disrupted brush border. MOC31 immunostaining was wild-type with a membranous pattern of expression. Electron microscopy of the duodenum showed scattered enterocytes cells with shortened and disrupted apical microvilli. Although there is a mixed gap diarrhea and disrupted brush border, there are no significant inclusions typical of microvillus inclusion disease, nor tufted enterocytes typical of tufting enteropathy, making the clinical and histopathologic features for this syndrome unique.<\/jats:p>","DOI":"10.1177\/10935266231177402","type":"journal-article","created":{"date-parts":[[2023,6,6]],"date-time":"2023-06-06T16:34:31Z","timestamp":1686069271000},"page":"406-410","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":6,"title":["Clinicopathologic Features of IDEDNIK (MEDNIK) Syndrome in a Term Infant: Histopathologic Features of the Gastrointestinal Tract and Report of a Novel\n                    <i>AP1S1<\/i>\n                    Variant"],"prefix":"10.1177","volume":"26","author":[{"given":"Jiajie G.","family":"Lu","sequence":"first","affiliation":[{"name":"Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shweta S.","family":"Namjoshi","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology & Nutrition, Stanford University School of Medicine, Stanford, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annie D.","family":"Niehaus","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shawn","family":"Tahata","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chung Un","family":"Lee","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Medical Genetics, Stanford University School of Medicine, Stanford, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lin","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Erin","family":"McDonnell","sequence":"additional","affiliation":[{"name":"Department of Clinical Nutrition, Lucile Packard Children\u2019s Hospital Stanford, Stanford, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Melissa","family":"Seely","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Pediatric Gastroenterology, Hepatology & Nutrition, Stanford University School of Medicine, Stanford, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Martin G.","family":"Martin","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, Division of Gastroenterology and Nutrition, David Geffen School of Medicine at UCLA, Los Angeles, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Florette K.","family":"Hazard","sequence":"additional","affiliation":[{"name":"Department of Pathology, Stanford University School of Medicine, Stanford, CA, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2023,6,6]]},"reference":[{"key":"bibr1-10935266231177402","doi-asserted-by":"publisher","DOI":"10.1007\/s10620-022-07410-1"},{"key":"bibr2-10935266231177402","doi-asserted-by":"publisher","DOI":"10.1097\/PAS.0000000000000314"},{"key":"bibr3-10935266231177402","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pgen.1000296"},{"key":"bibr4-10935266231177402","doi-asserted-by":"publisher","DOI":"10.1111\/nyas.12426"},{"key":"bibr5-10935266231177402","first-page":"1993","volume-title":"GeneReviews\u00ae","author":"Kaler SG","year":"2003"},{"key":"bibr6-10935266231177402","doi-asserted-by":"publisher","DOI":"10.1016\/j.ymgme.2018.12.005"},{"key":"bibr7-10935266231177402","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(03)01079-1"},{"key":"bibr8-10935266231177402","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-020-02168-w"},{"key":"bibr9-10935266231177402","doi-asserted-by":"publisher","DOI":"10.1007\/s11011-018-0313-4"},{"key":"bibr10-10935266231177402","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2019.09.020"},{"key":"bibr11-10935266231177402","doi-asserted-by":"publisher","DOI":"10.1111\/jdv.17098"},{"issue":"10","key":"bibr12-10935266231177402","volume":"23","author":"Babcock SJ","year":"2022","journal-title":"Hum Genet"},{"key":"bibr13-10935266231177402","unstructured":"Husain AN, Stocker JT, Dehner LP. 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