Hipocalcemia neonatal e hidrocefalia como manifestaciones tempranas de osteopetrosis intermedia: trasplante exitoso de células madre hematopoyéticas a pesar de pruebas genéticas negativas: un informe de caso

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 Copyright © 2026 Figà, Franzone, Faraci, Pierri, Pestarino, Amico, Faravelli,