{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,19]],"date-time":"2026-01-19T15:30:18Z","timestamp":1768836618512,"version":"3.49.0"},"reference-count":0,"publisher":"Sociedad Chilena de Pediatria","issue":"4","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Rev Chil Pediatr"],"abstract":"<jats:p>Introducci\u00f3n: Osteopetrosis Infantil Maligna (OIM) es un grave e inusual desorden gen\u00e9tico debido a una actividad osteocl\u00e1stica anormal.Objetivo: Reportar lactante en quien se document\u00f3 una Osteopetrosis Infantil Maligna, revisando aspectos diagn\u00f3sticos y terap\u00e9uticos m\u00e1s relevantes.Caso cl\u00ednico: Reportamos un lactante de 10 meses de sexo masculino en quien se confirm\u00f3 OIM tras presentar plaquetopenia y visceromegalias. En su historial destac\u00f3 ser primer hijo de padres no consangu\u00edneos, y entre sus hallazgos present\u00f3 hepatoesplenomegalia, plaquetopenia y anemia graves, compromiso sensorial visual y auditivo e infecciones a repetici\u00f3n. El diagn\u00f3stico fue confirmado mediante estudio gen\u00e9tico, el cual identific\u00f3 2 mutaciones heterocigotas en el gen TCIRG1. Se realiz\u00f3 trasplante de precursores hematopoy\u00e9ticos, sin haber presentado recuperaci\u00f3n hematol\u00f3gica, falleciendo por enfermedad veno oclusiva.Discusi\u00f3n: La OIM es una enfermedad inusual, grave y de inicio temprano, siendo necesario un elevado \u00edndice de sospecha ante hepatoesplenomegalia y falla medular. El diagn\u00f3stico temprano y el trasplante de precursores hematopoy\u00e9ticos son las \u00fanicas intervenciones potencialmente curativas de esta entidad letal.<\/jats:p>","DOI":"10.32641\/rchped.v90i4.987","type":"journal-article","created":{"date-parts":[[2019,11,20]],"date-time":"2019-11-20T20:09:33Z","timestamp":1574280573000},"page":"443","source":"Crossref","is-referenced-by-count":4,"title":["Osteopetrosis infantil maligna"],"prefix":"10.32641","volume":"90","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-4796-2624","authenticated-orcid":false,"given":"A.","family":"Vomero","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.","family":"Tapie","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.","family":"Arroyo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V.","family":"Ragggio","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Peluffo","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"G.","family":"Dufort","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"17639","published-online":{"date-parts":[[2019,8,14]]},"container-title":["Revista Chilena de Pediatr\u00eda"],"original-title":[],"link":[{"URL":"http:\/\/www.revistachilenadepediatria.cl\/index.php\/rchped\/article\/viewFile\/987\/1127","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.revistachilenadepediatria.cl\/index.php\/rchped\/article\/viewFile\/987\/1239","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"http:\/\/www.revistachilenadepediatria.cl\/index.php\/rchped\/article\/viewFile\/987\/1239","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,4,12]],"date-time":"2021-04-12T18:27:57Z","timestamp":1618252077000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.revistachilenadepediatria.cl\/index.php\/rchped\/article\/view\/987"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,8,14]]},"references-count":0,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2019,8,14]]}},"URL":"https:\/\/doi.org\/10.32641\/rchped.v90i4.987","relation":{},"ISSN":["0370-4106","0370-4106"],"issn-type":[{"value":"0370-4106","type":"electronic"},{"value":"0370-4106","type":"print"}],"subject":[],"published":{"date-parts":[[2019,8,14]]}}}