{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,5,14]],"date-time":"2025-05-14T02:40:50Z","timestamp":1747190450916,"version":"3.40.5"},"reference-count":14,"publisher":"Wiley","license":[{"start":{"date-parts":[[2021,7,6]],"date-time":"2021-07-06T00:00:00Z","timestamp":1625529600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Case Reports in Hematology"],"published-print":{"date-parts":[[2021,7,6]]},"abstract":"<jats:p>Introduction. Congenital thrombotic thrombocytopenic purpura (cTTP) is a rare autosomal recessive disease characterized by ADAMTS13 deficiency or a severe decrease in its activity that is caused by homozygous or combined heterozygous mutations in its encoding gene. Here, we describe a de novo genetic mutation of the ADAMTS13 gene and a rare complication of cTTP in a neonate. Case Presentation. A full-term baby boy developed tachypnea, bradycardia, and oxygen desaturation at 2\u2009h of life and was shifted to the newborn intensive care unit. He was oliguric in the first 24\u2009h of life and had one episode of epistaxis. Blood-stained urine was observed in the urine catheter, and a coffee-ground-colored fluid was drained from the orogastric tube. Histopathological analysis revealed gastric perforation with features of ischemic insult. On day 8, genetic analysis confirmed the diagnosis of autosomal recessive familial thrombotic thrombocytopenic purpura and revealed a unique homozygous deletion mutation on exon 23 of ADAMTS13: c.2883del p.(Cys962Alafs<jats:inline-formula>\n                     <a:math xmlns:a=\"http:\/\/www.w3.org\/1998\/Math\/MathML\" id=\"M1\">\n                        <a:msup>\n                           <a:mrow\/>\n                           <a:mi>\u2217<\/a:mi>\n                        <\/a:msup>\n                     <\/a:math>\n                  <\/jats:inline-formula>3). Conclusion. cTTP is a rare life-threatening autosomal recessive disease with a high mortality rate. Early detection and initiation of aggressive treatment with plasma infusion could be a life-saving strategy in such cases.<\/jats:p>","DOI":"10.1155\/2021\/5516863","type":"journal-article","created":{"date-parts":[[2021,7,7]],"date-time":"2021-07-07T17:50:23Z","timestamp":1625680223000},"page":"1-3","source":"Crossref","is-referenced-by-count":1,"title":["De Novo Mutation of the ADAMTS13 Gene with Mesenteric Ischemia in an Infant with Congenital Thrombotic Thrombocytopenic Purpura"],"prefix":"10.1155","volume":"2021","author":[{"given":"Ibrahim","family":"Alharbi","sequence":"first","affiliation":[{"name":"Department of Pediatrics, Umm Al-Qura University, Makkah, Saudi Arabia"},{"name":"King Fahad Armed Forces Hospital, Jeddah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sarah","family":"Alqarni","sequence":"additional","affiliation":[{"name":"Umm Al-Qura University, Makkah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Wed","family":"Khayyat","sequence":"additional","affiliation":[{"name":"Umm Al-Qura University, Makkah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7528-5395","authenticated-orcid":true,"given":"Amirah","family":"Almatrafi","sequence":"additional","affiliation":[{"name":"Umm Al-Qura University, Makkah, Saudi Arabia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","reference":[{"key":"1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.21143"},{"key":"2","doi-asserted-by":"publisher","DOI":"10.1093\/ndt\/gfh230"},{"key":"3","doi-asserted-by":"publisher","DOI":"10.1111\/bjh.12214"},{"key":"4","doi-asserted-by":"publisher","DOI":"10.1111\/j.1538-7836.2012.04852.x"},{"key":"5","doi-asserted-by":"publisher","DOI":"10.1038\/35097008"},{"key":"6","doi-asserted-by":"publisher","DOI":"10.3324\/haematol.2019.216796"},{"key":"7","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.172277399"},{"key":"8","doi-asserted-by":"publisher","DOI":"10.3109\/14767058.2015.1071789"},{"key":"9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2141.2012.09167.x"},{"key":"10","doi-asserted-by":"publisher","DOI":"10.1097\/mph.0b013e3181cbd265"},{"key":"11","article-title":"Hereditary thrombotic thrombocytopenic purpura (TTP)","volume":"24","author":"J. 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George","year":"2017","journal-title":"New England Journal of Medicine"},{"key":"12","doi-asserted-by":"publisher","DOI":"10.1097\/mph.0000000000000917"},{"key":"13","doi-asserted-by":"publisher","DOI":"10.1097\/mph.0b013e3182755c38"},{"key":"14","doi-asserted-by":"publisher","DOI":"10.1186\/s12881-020-00996-1"}],"container-title":["Case Reports in Hematology"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/downloads.hindawi.com\/journals\/crihem\/2021\/5516863.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crihem\/2021\/5516863.xml","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/downloads.hindawi.com\/journals\/crihem\/2021\/5516863.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,7,7]],"date-time":"2021-07-07T17:50:28Z","timestamp":1625680228000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.hindawi.com\/journals\/crihem\/2021\/5516863\/"}},"subtitle":[],"editor":[{"given":"Saveria","family":"Capria","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2021,7,6]]},"references-count":14,"alternative-id":["5516863","5516863"],"URL":"https:\/\/doi.org\/10.1155\/2021\/5516863","relation":{},"ISSN":["2090-6579","2090-6560"],"issn-type":[{"type":"electronic","value":"2090-6579"},{"type":"print","value":"2090-6560"}],"subject":[],"published":{"date-parts":[[2021,7,6]]}}}