{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,4]],"date-time":"2026-05-04T10:30:54Z","timestamp":1777890654998,"version":"3.51.4"},"reference-count":8,"publisher":"SAGE Publications","issue":"1","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["NPM"],"published-print":{"date-parts":[[2023,3,28]]},"abstract":"<jats:p>BACKGROUND: Thrombocytopenia absent radius (TAR) syndrome is a rare disease with an estimated prevalence of one in 200,000 live births. TAR is associated with cardiac and renal anomalies as well as gastrointestinal problems such as cow\u2019s milk protein allergy (CMPA). Typically neonates with CMPA present with mild intolerance, with few reports in the literature of more severe intolerance resulting in pneumatosis. We present a case of a male infant with TAR syndrome who developed gastric and colonic pneumatosis intestinalis. CASE DESCRIPTION: An eight-day-old male infant born at 36 weeks gestation with a diagnosis of TAR, presented with bright red blood in his stool. At this time he was on full formula feeds. Given continued bright red blood within his stool, an abdominal radiograph was obtained which was consistent with colonic and gastric pneumatosis. A complete blood count (CBC) was notable for worsening thrombocytopenia, anemia and eosinophilia. Once enteral feeds were held there was rapid resolution of the radiographic findings and resolution of his bloody stool. He was ultimately diagnosed with a CMPA. CONCLUSION: Though there are reports of CMPA in patients with TAR, the severity of this patient\u2019s presentation with both colonic and gastric pneumatosis is unique. Without the knowledge of the association of CMPA with TAR, this case could have been misdiagnosed and led to reintroduction of cow\u2019s milk containing formula, resulting in further complications. This case highlights the importance of a timely diagnosis and severity of CMPA in this population.<\/jats:p>","DOI":"10.3233\/npm-221138","type":"journal-article","created":{"date-parts":[[2023,3,3]],"date-time":"2023-03-03T10:50:28Z","timestamp":1677840628000},"page":"183-186","source":"Crossref","is-referenced-by-count":0,"title":["Case report: Pneumatosis in a neonate with thrombocytopenia absent radius syndrome"],"prefix":"10.1177","volume":"16","author":[{"given":"S.","family":"Brady","sequence":"first","affiliation":[{"name":"Columbia University Medical Center, New York City, New York, USA"},{"name":"New York-Presbyterian Morgan Stanley Children\u2019s Hospital, New York City, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"T.","family":"Leone","sequence":"additional","affiliation":[{"name":"Columbia University Medical Center, New York City, New York, USA"},{"name":"New York-Presbyterian Morgan Stanley Children\u2019s Hospital, New York City, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F.","family":"Kim","sequence":"additional","affiliation":[{"name":"Columbia University Medical Center, New York City, New York, USA"},{"name":"New York-Presbyterian Morgan Stanley Children\u2019s Hospital, New York City, New York, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","reference":[{"key":"10.3233\/NPM-221138_ref2","doi-asserted-by":"crossref","first-page":"707","DOI":"10.1055\/s-0031-1291381","article-title":"Thrombocytopenia-absent radius syndrome","volume":"37","author":"Toriello","year":"2011","journal-title":"Semin Thromb Hemost"},{"issue":"12","key":"10.3233\/NPM-221138_ref3","doi-asserted-by":"crossref","first-page":"876","DOI":"10.1136\/jmg.39.12.876","article-title":"Thrombocytopenia-absent radius syndrome: A clinical genetic study","volume":"39","author":"Brunner","year":"2002","journal-title":"J Med Genet"},{"issue":"5","key":"10.3233\/NPM-221138_ref4","doi-asserted-by":"crossref","first-page":"337","DOI":"10.1136\/adc.51.5.337","article-title":"Cows\u2019 milk allergy in the syndrome ofthrombocytopenia with absent radius","volume":"51","author":"Whitfield","year":"1976","journal-title":"Arch Dis Child"},{"issue":"6","key":"10.3233\/NPM-221138_ref5","doi-asserted-by":"crossref","first-page":"411","DOI":"10.1097\/00005792-196948060-00001","article-title":"Thrombocytopenia with absent radius (TAR)","volume":"48","author":"Hall","year":"1969","journal-title":"Medicine (Baltimore)"},{"key":"10.3233\/NPM-221138_ref6","doi-asserted-by":"crossref","first-page":"e2402080","DOI":"10.1136\/bcr-2021-242080","article-title":"Unusual presentation in cow\u2019s milk protein allergy","volume":"14","author":"Carvalho","year":"2021","journal-title":"BMJ Case Reports"},{"issue":"6","key":"10.3233\/NPM-221138_ref7","doi-asserted-by":"crossref","first-page":"431","DOI":"10.1038\/jp.2009.153","article-title":"Allergic enterocolitis presenting as recurrent necrotizing enterocolitis in preterm neonates","volume":"30","author":"Srinivasan","year":"2010","journal-title":"J Perinatol"},{"issue":"4","key":"10.3233\/NPM-221138_ref8","doi-asserted-by":"crossref","first-page":"149","DOI":"10.4103\/0971-9261.121118","article-title":"Case report neonatal segmental enteritis due to cow\u2019s milk allergy","volume":"18","author":"Arunachalam","year":"2013","journal-title":"J Indian Assoc Pediatr Surg"},{"key":"10.3233\/NPM-221138_ref9","doi-asserted-by":"crossref","unstructured":"Koletzko , Niggemann , Arato , Dias , Heuschkel , Husby , et al. Diagnostic approach and management of cow\u2019s-milk protein allergy in infants and children: ESPGHAN GI Committee Practical Guidelines, JPGN 2012;55:221\u20139.","DOI":"10.1097\/MPG.0b013e31825c9482"}],"container-title":["Journal of Neonatal-Perinatal Medicine"],"original-title":[],"link":[{"URL":"https:\/\/content.iospress.com\/download?id=10.3233\/NPM-221138","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T05:42:48Z","timestamp":1777614168000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.medra.org\/servlet\/aliasResolver?alias=iospress&doi=10.3233\/NPM-221138"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,28]]},"references-count":8,"journal-issue":{"issue":"1"},"URL":"https:\/\/doi.org\/10.3233\/npm-221138","relation":{},"ISSN":["1934-5798","1878-4429"],"issn-type":[{"value":"1934-5798","type":"print"},{"value":"1878-4429","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,28]]}}}