{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,12,19]],"date-time":"2025-12-19T15:12:35Z","timestamp":1766157155355},"reference-count":38,"publisher":"Oxford University Press (OUP)","issue":"12","license":[{"start":{"date-parts":[[2001,12,1]],"date-time":"2001-12-01T00:00:00Z","timestamp":1007164800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/journals\/pages\/open_access\/funder_policies\/chorus\/standard_publication_model"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2001,12,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n               <jats:p>A newborn girl with hemorrhagic purpura, suspected neonatal sepsis, and pale and dry skin was lethargic with remarkable hepatosplenomegaly, convergent strabismus, severe anemia, and elevated alkaline phosphatase activity. Radiographs showed a generalized increase in bone density, small medullary cavities, sclerosis of the skull and vertebrae, transverse wavy stripes of sclerotic bone in the metaphyses, and bone-in-bone appearance in phalanges of hands and feet. On this basis, she was diagnosed with malignant infantile osteopetrosis. On the first day of life, the infant was given a blood transfusion and vitamin K (1 mg intravenously [iv]). Corticosteroid therapy was started with prednisone (2 mg\/kg per day). She showed marked improvement of symptoms. On the 26th day and 42nd day of life, she received additional blood transfusions. On the 49th day, the patient was discharged and corticosteroid therapy was continued at a regimen of 5 mg\/day. Subsequent blood sample analyses revealed normal values for age. At 1 year of life, a bone marrow sample showed normal white and red cell lineages. X-ray confirmed attenuation of the bone sclerosis; therefore, bone marrow transplantation (BMT) was not implemented. At the age of 1.5 years, prednisone therapy was discontinued gradually and withdrawn before the age of 2 years. Subsequent follow-up showed normalization of all radiological and hematologic parameters. At present, the patient is 3 years old and appears healthy with apparently complete regression of the disease.<\/jats:p>","DOI":"10.1359\/jbmr.2001.16.12.2356","type":"journal-article","created":{"date-parts":[[2006,4,27]],"date-time":"2006-04-27T03:52:36Z","timestamp":1146109956000},"page":"2356-2360","source":"Crossref","is-referenced-by-count":24,"title":["Apparent Cure of a Newborn with Malignant Osteopetrosis Using Prednisone Therapy"],"prefix":"10.1093","volume":"16","author":[{"given":"Metello","family":"Iacobini","sequence":"first","affiliation":[{"name":"These authors share first authorship in this work"},{"name":"Department of Pediatrics, University La Sapienza, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Silvia","family":"Migliaccio","sequence":"additional","affiliation":[{"name":"Department of Medical Physiopathology, University La Sapienza, Rome, Italy"},{"name":"Department of Experimental Medicine, University of L'Aquila, L'Aquila, Italy"},{"name":"These authors share first authorship in this work"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mario","family":"Roggini","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University La Sapienza, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Taranta","sequence":"additional","affiliation":[{"name":"Istituto Dermopatico dell'Immacolata, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beate","family":"Werner","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University La Sapienza, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alessandra","family":"Panero","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University La Sapienza, Rome, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anna","family":"Teti","sequence":"additional","affiliation":[{"name":"Department of Experimental Medicine, University of L'Aquila, L'Aquila, Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2009,12,2]]},"reference":[{"key":"2024020714114990200_bib1","first-page":"367","volume-title":"Primers on the Metabolic Bone Diseases and Disorders of Mineral Metabolism","author":"Whyte","year":"1999","edition":"4th ed."},{"key":"2024020714114990200_bib2","doi-asserted-by":"crossref","first-page":"449","DOI":"10.1136\/adc.83.5.449","article-title":"Autosomal recessive osteopetrosis: Diagnosis, management, and outcome","volume":"83","author":"Wilson","year":"2000","journal-title":"Arch Dis Child"},{"key":"2024020714114990200_bib3","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S0022-3476(77)80441-1","article-title":"Osteopetrosis in children. A report of 26 cases","volume":"91","author":"Loria-Cortes","year":"1977","journal-title":"J Pediatr"},{"key":"2024020714114990200_bib4","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1002\/ajmg.1320170208","article-title":"A mild autosomal recessive form of osteopetrosis","volume":"17","author":"Kahele","year":"1984","journal-title":"Am J Med Genet"},{"key":"2024020714114990200_bib5","doi-asserted-by":"crossref","first-page":"45","DOI":"10.1097\/00003086-199309000-00006","article-title":"Autosomal dominant osteopetrosis","volume":"294","author":"Bollerslev","year":"1993","journal-title":"Clin Orthop"},{"key":"2024020714114990200_bib6","doi-asserted-by":"crossref","first-page":"247","DOI":"10.1542\/peds.93.2.247","article-title":"Autosomal recessive osteopetrosis: Variability of findings at diagnosis and during natural course","volume":"93","author":"Gerritsen","year":"1994","journal-title":"Pediatrics"},{"key":"2024020714114990200_bib7","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/S0022-3476(98)70467-6","article-title":"Developmental spectrum of children with congenital osteopetrosis","volume":"132","author":"Charles","year":"1998","journal-title":"J Pediatr"},{"key":"2024020714114990200_bib8","doi-asserted-by":"crossref","first-page":"1137","DOI":"10.1016\/S0140-6736(77)90592-X","article-title":"Bone marrow transplantation in osteopetrosis","volume":"2","author":"Ballett","year":"1977","journal-title":"Lancet"},{"key":"2024020714114990200_bib9","doi-asserted-by":"crossref","first-page":"701","DOI":"10.1056\/NEJM198003273021301","article-title":"Successful bone-marrow transplantation for infantile malignant osteopetrosis","volume":"302","author":"Coccia","year":"1980","journal-title":"N Engl J Med"},{"key":"2024020714114990200_bib10","doi-asserted-by":"crossref","first-page":"896","DOI":"10.1016\/S0022-3476(05)82004-9","article-title":"Bone marrow transplantation for osteopetrosis. A report from the Working Party on Inborn Errors of the European Bone Marrow Transplantation Group","volume":"125","author":"Gerritsen","year":"1994","journal-title":"J Pediatr"},{"key":"2024020714114990200_bib11","doi-asserted-by":"crossref","first-page":"350","DOI":"10.1097\/00043426-199511000-00013","article-title":"Bone marrow transplantation for infantile malignant osteopetrosis","volume":"17","author":"Sohl","year":"1995","journal-title":"J Pediatr Hematol Oncol"},{"key":"2024020714114990200_bib12","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1034\/j.1399-3046.1999.00062.x","article-title":"Hematopoietic stem-cell transplantation using unrelated cord-blood versus matched sibling marrow in pediatric bone marrow failure syndrome: One center's experience","volume":"3","author":"Shaw","year":"1999","journal-title":"Pediatr Transplant"},{"key":"2024020714114990200_bib13","doi-asserted-by":"crossref","first-page":"143","DOI":"10.1016\/0221-8747(81)90033-3","article-title":"Induction of bone resorption by parathyroid hormone in congenital malignant osteopetrosis","volume":"3","author":"Glorieux","year":"1981","journal-title":"Metab Bone Dis Relat Res"},{"key":"2024020714114990200_bib14","doi-asserted-by":"crossref","first-page":"409","DOI":"10.1056\/NEJM198402163100701","article-title":"Treatment of congenital osteopetrosis with high-dose calcitriol","volume":"310","author":"Key","year":"1984","journal-title":"N Engl J Med"},{"key":"2024020714114990200_bib15","first-page":"779","article-title":"Megadose methylprednisolone treatment for malignant osteopetrosis","volume":"154","author":"Van Lie Peters","year":"1994","journal-title":"Eur J Pediatr"},{"key":"2024020714114990200_bib16","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1016\/S0022-3476(05)82557-0","article-title":"Recombinant human interferon gamma therapy for osteopetrosis","volume":"121","author":"Key","year":"1992","journal-title":"J Pediatr"},{"key":"2024020714114990200_bib17","doi-asserted-by":"crossref","first-page":"1594","DOI":"10.1056\/NEJM199506153322402","article-title":"Long term treatment of osteopetrosis with recombinant human interferon","volume":"332","author":"Key","year":"1995","journal-title":"N Engl J Med"},{"key":"2024020714114990200_bib18","doi-asserted-by":"crossref","first-page":"210","DOI":"10.1016\/S0022-3476(79)80825-2","article-title":"The hematopoietic effects of prednisone therapy in four infants with osteopetrosis","volume":"4","author":"Reeves","year":"1979","journal-title":"J Pediatr"},{"key":"2024020714114990200_bib19","doi-asserted-by":"crossref","first-page":"85","DOI":"10.1097\/00003086-199309000-00010","article-title":"Osteopetrosis. The pharmaco-physiologic basis of therapy","volume":"294","author":"Key","year":"1993","journal-title":"Clin Orthop"},{"key":"2024020714114990200_bib20","doi-asserted-by":"crossref","first-page":"214","DOI":"10.1136\/adc.62.2.214-c","article-title":"High dose intravenous methylprednisolone in treatment of recessive osteopetrosis","volume":"62","author":"\u00d6zsoylu","year":"1987","journal-title":"Arch Dis Child"},{"key":"2024020714114990200_bib21","first-page":"197","article-title":"High dose intravenous methylprednisolone (HIVMP) in hematological disorders","volume":"4","author":"\u00d6zsoylu","year":"1990","journal-title":"Hematol Rev"},{"key":"2024020714114990200_bib22","doi-asserted-by":"crossref","first-page":"666","DOI":"10.1136\/adc.61.7.666","article-title":"Juvenile osteopetrosis: Effects on blood and bone of prednisone and a low calcium, high phosphate diet","volume":"61","author":"Dorantes","year":"1986","journal-title":"Arch Dis Child"},{"key":"2024020714114990200_bib23","doi-asserted-by":"crossref","first-page":"834","DOI":"10.1359\/jbmr.1999.14.5.834","article-title":"Association of intermediate osteopetrosis with poikiloderma","volume":"14","author":"Migliaccio","year":"1999","journal-title":"J Bone Miner Res"},{"key":"2024020714114990200_bib24","doi-asserted-by":"crossref","first-page":"252","DOI":"10.1016\/S0022-3476(05)80495-0","article-title":"Transient infantile osteopetrosis","volume":"118","author":"Monagham","year":"1991","journal-title":"J Pediatr"},{"key":"2024020714114990200_bib25","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1177\/000992289903800405","article-title":"Physiologic osteosclerosis versus osteopetrosis of the newborn","volume":"38","author":"Nadvi","year":"1999","journal-title":"Clin Pediatr"},{"key":"2024020714114990200_bib26","doi-asserted-by":"crossref","first-page":"1005","DOI":"10.1016\/S0022-3476(05)81986-9","article-title":"Osteosclerosis versus osteopetrosis of the newborn","volume":"120","author":"\u00d6zsoylu","year":"1992","journal-title":"J Pediatr"},{"key":"2024020714114990200_bib27","first-page":"333","article-title":"Therapeutic issues in oral glucocordicoid use","volume":"3","author":"Bello","year":"1999","journal-title":"Lippincotts Prim Care Pract"},{"key":"2024020714114990200_bib28","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1016\/S0022-3476(98)70467-6","article-title":"Developmental spectrum of children with congenital osteopetrosis","volume":"132","author":"Charles","year":"1998","journal-title":"J Pediatr"},{"key":"2024020714114990200_bib29","doi-asserted-by":"crossref","first-page":"1504","DOI":"10.1126\/science.289.5484.1504","article-title":"Bone resorption by osteoclasts","volume":"289","author":"Teitelbaum","year":"2000","journal-title":"Science"},{"key":"2024020714114990200_bib30","doi-asserted-by":"crossref","first-page":"1835","DOI":"10.1172\/JCI118984","article-title":"Demonstration of an osteoblast defect in two cases of human malignant osteopetrosis. Correction of the phenotype after bone marrow transplantation","volume":"98","author":"Lajeunesse","year":"1996","journal-title":"J Clin Invest"},{"key":"2024020714114990200_bib31","first-page":"1082","article-title":"Carbonic anhydrase deficiency syndrome in a Belgian family is caused by a point mutation at an invariant histidine residue (107His \u2192 Tyr): Complete structure of the normal human CAII gene","volume":"49","author":"Venta","year":"1991","journal-title":"Am J Human Genet"},{"key":"2024020714114990200_bib32","doi-asserted-by":"crossref","first-page":"804","DOI":"10.1073\/pnas.89.5.1804","article-title":"Molecular basis of human carbonic anhydrase II deficiency","volume":"89","author":"Roth","year":"1992","journal-title":"Proc Natl Acad Sci USA"},{"key":"2024020714114990200_bib33","doi-asserted-by":"crossref","first-page":"2752","DOI":"10.1073\/pnas.80.9.2752","article-title":"Carbonic anhydrase II deficiency identified as the primary defect in the autosomal recessive syndrome of osteopetrosis with renal tubular acidosis and cerebral calcification","volume":"80","author":"Sly","year":"1983","journal-title":"Proc Natl Acad Sci USA"},{"key":"2024020714114990200_bib34","first-page":"5331","volume-title":"The Metabolic and Molecular Bases of Inherited Disease","author":"Sly","year":"2001","edition":"8th ed"},{"key":"2024020714114990200_bib35","doi-asserted-by":"crossref","first-page":"343","DOI":"10.1038\/77131","article-title":"Defects in TCIRG1 subunit of the vacuolar proton pump are responsible for a subset of human autosomal recessive osteopetrosis","volume":"25","author":"Frattini","year":"2000","journal-title":"Nat Genet"},{"key":"2024020714114990200_bib36","doi-asserted-by":"crossref","first-page":"2059","DOI":"10.1093\/hmg\/9.13.2059","article-title":"Mutations in the a3 subunit of the vacuolar H+-ATPase cause infantile malignant osteopetrosis","volume":"9","author":"Kornak","year":"2000","journal-title":"Hum Mol Genet"},{"key":"2024020714114990200_bib37","doi-asserted-by":"crossref","first-page":"213","DOI":"10.1615\/CritRevEukarGeneExpr.v10.i3-4.10","article-title":"Regulation of differentiated osteoclasts","volume":"10","author":"Gay","year":"2000","journal-title":"Crit Rev Eukaryot Gene Exp"},{"key":"2024020714114990200_bib38","doi-asserted-by":"crossref","first-page":"205","DOI":"10.1016\/S0092-8674(01)00206-9","article-title":"Loss of the ClC-7 chloride channel leads to osteopetrosis in mice and man","volume":"104","author":"Kornak","year":"2001","journal-title":"Cell"}],"container-title":["Journal of Bone and Mineral Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1359%2Fjbmr.2001.16.12.2356","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/16\/12\/2356\/56605841\/5650161224.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/jbmr\/article-pdf\/16\/12\/2356\/56605841\/5650161224.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,3,13]],"date-time":"2024-03-13T15:02:05Z","timestamp":1710342125000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/jbmr\/article\/16\/12\/2356-2360\/7515975"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2001,12,1]]},"references-count":38,"journal-issue":{"issue":"12","published-online":{"date-parts":[[2009,12,2]]},"published-print":{"date-parts":[[2001,12,1]]}},"URL":"https:\/\/doi.org\/10.1359\/jbmr.2001.16.12.2356","relation":{},"ISSN":["0884-0431","1523-4681"],"issn-type":[{"value":"0884-0431","type":"print"},{"value":"1523-4681","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2001,12,1]]},"published":{"date-parts":[[2001,12,1]]}}}