{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T04:59:45Z","timestamp":1785387585663,"version":"3.55.0"},"reference-count":23,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T00:00:00Z","timestamp":1785369600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Endocrinol."],"abstract":"<jats:p>Osteopetrosis is a rare genetic skeletal disorder caused by defective osteoclast-mediated bone resorption, leading to increased bone density and complications including hypocalcemia, pancytopenia, cranial nerve compression, and, more rarely, hydrocephalus. We report a rare case of intermediate osteopetrosis presenting with neonatal hypocalcemia and progressive macrocephaly. Brain magnetic resonance imaging confirmed obstructive hydrocephalus, which was treated with ventriculoperitoneal shunting. Clinical and radiological findings supported the diagnosis of osteopetrosis, although targeted genetic testing and whole exome sequencing did not identify a causative variant. The patient was treated with calcium gluconate and vitamin D supplementation, followed by hematopoietic stem cell transplantation from an HLA-matched unrelated donor using peripheral blood stem cells. This case highlights the importance of early recognition and timely hematopoietic stem cell transplantation to promote successful engraftment and improve long-term outcomes, even in the absence of molecular confirmation.<\/jats:p>","DOI":"10.3389\/fendo.2026.1910072","type":"journal-article","created":{"date-parts":[[2026,7,30]],"date-time":"2026-07-30T04:21:10Z","timestamp":1785385270000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Neonatal hypocalcemia and hydrocephalus as early manifestations of intermediate osteopetrosis: successful hematopoietic stem cell transplantation despite negative genetic testing: a case report"],"prefix":"10.3389","volume":"17","author":[{"given":"Laura","family":"Fig\u00e0","sequence":"first","affiliation":[{"name":"Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa","place":["Genoa, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Franzone","sequence":"additional","affiliation":[{"name":"Pediatrics and Neonatology Unit of Savona, IRCCS Istituto Giannina Gaslini","place":["Genoa, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maura","family":"Faraci","sequence":"additional","affiliation":[{"name":"Hematopoietic Stem Cell Transplantation Unit, IRCCS Istituto G. Gaslini","place":["Genova, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Filomena","family":"Pierri","sequence":"additional","affiliation":[{"name":"Hematopoietic Stem Cell Transplantation Unit, IRCCS Istituto G. Gaslini","place":["Genova, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Pestarino","sequence":"additional","affiliation":[{"name":"Hematopoietic Stem Cell Transplantation Unit, IRCCS Istituto G. Gaslini","place":["Genova, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Amico","sequence":"additional","affiliation":[{"name":"Laboratory of Human Genetics, IRCCS Istituto Giannina Gaslini","place":["Genoa, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Faravelli","sequence":"additional","affiliation":[{"name":"Genomics and Clinical Genetics Unit, IRCCS Istituto Giannina Gaslini","place":["Genova, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gianluca","family":"Piatelli","sequence":"additional","affiliation":[{"name":"Neurosurgery Unit, IRCCS Istituto Giannina Gaslini","place":["Genova, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna Elsa Maria","family":"Allegri","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology Unit, Department of Paediatrics, IRCCS Istituto Giannina Gaslini","place":["Genoa, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mohamad","family":"Maghnie","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa","place":["Genoa, Italy"]},{"name":"Paediatric Endocrinology Unit, Department of Paediatrics, IRCCS Istituto Giannina Gaslini","place":["Genoa, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Flavia","family":"Napoli","sequence":"additional","affiliation":[{"name":"Paediatric Endocrinology Unit, Department of Paediatrics, IRCCS Istituto Giannina Gaslini","place":["Genoa, Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Natascia","family":"di Iorgi","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa","place":["Genoa, Italy"]},{"name":"Paediatric 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