{"pk":35526,"title":"Concurrent Malignant Infantile Osteopetrosis and Hypophosphatasia in a Six-year-old Boy: A Case Report","subtitle":null,"abstract":"Malignant infantile osteopetrosis is a rare inherited disease of bone metabolism, in which osteoclast dysfunction and diminished bone turnover lead to diffuse sclerosis with obliteration of the medullary cavities and narrowing of the skull base neural foramina. We report a case of malignant infantile osteopetrosis with bone marrow failure and optic atrophy that co-occurred with hypophosphatasia, another rare inherited bone disease, in a 6-year-old boy. Key imaging signs of these rare diseases are discussed.","language":"en","license":{"name":"Creative Commons Attribution 4.0","short_name":"CC BY 4.0","text":"Attribution — You must give appropriate credit, provide a link to the license, and indicate if changes were made. You may do so in any reasonable manner, but not in any way that suggests the licensor endorses you or your use.\n\nNo additional restrictions — You may not apply legal terms or technological measures that legally restrict others from doing anything the license permits.","url":"https://creativecommons.org/licenses/by/4.0"},"keywords":[{"word":"osteopetrosis, malignant infantile osteopetrosis, hypophosphatasia"}],"section":"Articles","is_remote":true,"remote_url":"https://escholarship.org/uc/item/73t0k8xd","frozenauthors":[{"first_name":"Tracie","middle_name":"Y","last_name":"Kong","name_suffix":"","institution":"David Geffen School of Medicine at UCLA","department":"None"},{"first_name":"Shahnaz","middle_name":"","last_name":"Ghahremani Koureh","name_suffix":"","institution":"David Geffen School of Medicine at UCLA","department":"None"}],"date_submitted":"2021-02-19T00:36:23Z","date_accepted":"2021-02-19T00:36:23Z","date_published":"2023-01-30T08:00:00Z","render_galley":null,"galleys":[{"label":"","type":"pdf","path":"https://journalpub.escholarship.org/ucla_rsp/article/35526/galley/26442/download/"}]}