{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T00:18:36Z","timestamp":1779322716339,"version":"3.51.4"},"reference-count":18,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2014,10,22]],"date-time":"2014-10-22T00:00:00Z","timestamp":1413936000000},"content-version":"vor","delay-in-days":21,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Pediatrics International"],"published-print":{"date-parts":[[2014,10]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 5\u2010month\u2010old boy developed splenomegaly, anemia, thrombocytopenia with elevated white cells, monocytosis and immature granulocytes in the peripheral blood. Bone marrow showed dysplasia without blastosis. Increased colony\u2010forming unit\u2010granulocyte\u2013macrophage was found in the peripheral blood, mimicking granulocyte\u2013macrophage colony\u2010stimulating factor hypersensitivity. These findings fulfilled the diagnosis criteria for juvenile myelomonocytic leukemia (<jats:styled-content style=\"fixed-case\">JMML)<\/jats:styled-content>, but no mutations in the <jats:italic>CBL<\/jats:italic>, <jats:italic>NRAS<\/jats:italic>, <jats:italic>KRAS<\/jats:italic>, or <jats:italic>PTPN<\/jats:italic><jats:italic>11<\/jats:italic> genes were detected. In addition to these findings severe hypogammaglobulinemia and elevated alkaline phosphatase were present. Bone <jats:styled-content style=\"fixed-case\">X<\/jats:styled-content>\u2010ray showed dense and radiopaque bones with a bone\u2010in\u2010bone appearance characteristic of infantile malignant osteopetrosis (<jats:styled-content style=\"fixed-case\">IMO<\/jats:styled-content>). Genetic mutation in T\u2010cell, immune regulator 1 (<jats:italic>TCIRG<\/jats:italic><jats:italic>1<\/jats:italic>) was identified, confirming the diagnosis of <jats:styled-content style=\"fixed-case\">IMO<\/jats:styled-content>. Careful differential diagnosis including osteopetrosis, is therefore recommended in patients with clinical features and hematologic findings consistent with <jats:styled-content style=\"fixed-case\">JMML<\/jats:styled-content>.<\/jats:p>","DOI":"10.1111\/ped.12342","type":"journal-article","created":{"date-parts":[[2014,10,22]],"date-time":"2014-10-22T06:49:30Z","timestamp":1413960570000},"page":"779-782","source":"Crossref","is-referenced-by-count":13,"title":["Osteopetrosis mimicking juvenile myelomonocytic leukemia"],"prefix":"10.1111","volume":"56","author":[{"given":"Claire","family":"Hoyoux","sequence":"first","affiliation":[{"name":"Pediatric Hemato\u2010oncology CHR Citadelle  Li\u00e8ge Belgium"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marie Fran\u00e7oise","family":"Dresse","sequence":"additional","affiliation":[{"name":"Pediatric Hemato\u2010oncology CHR Citadelle  Li\u00e8ge 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