Osteopetrorickets: Two contradictory patterns—one unifying diagnosis Journal Article


Authors: Behr, G.; Kuhn, M.; Oved, J. H.; Sulis, M. L.
Article Title: Osteopetrorickets: Two contradictory patterns—one unifying diagnosis
Abstract: A 5-month-old infant with bone findings on x-ray presented an apparent contradiction including findings of both diffusely dense bones and rickets in the context of a history and laboratory investigation that suggested leukemia. Next generation gene panel sequencing revealed a TCIRG1 mutation which is consistent with autosomal recessive osteopetrosis. The paradoxical x-ray findings underscore a recently elucidated mechanism for the pathogenesis of a TCIRG mutation. This case highlights the importance of recognizing this radiographic, seeming contradictory, association in the context of a confusing clinical presentation. Failure to recognize this pattern promptly may lead to a delay in diagnosis, thus potentially permanent organ failure. © The Author(s), under exclusive licence to International Skeletal Society (ISS) 2023.
Keywords: clinical article; gene mutation; human cell; genetics; clinical feature; case report; hypophosphatemia; pathophysiology; computer assisted tomography; anemia; cell maturation; thrombocytopenia; calcium; cell population; rash; emergency ward; infant; bone; allogeneic hematopoietic stem cell transplantation; immunophenotyping; thorax radiography; physical examination; blood cell count; lethargy; leukocytosis; myeloid progenitor cell; metaphysis; hypocalcemia; medical history; petechia; osteosclerosis; macrocephaly; juvenile myelomonocytic leukemia; pallor; high throughput sequencing; albers schoenberg disease; myeloblast; human; male; article; leukocyte differential count; bone marrow aspiration; calcium rickets; osteopetrorickets; tcirg 1 gene
Journal Title: Skeletal Radiology
Volume: 53
Issue: 4
ISSN: 0364-2348
Publisher: Springer  
Date Published: 2024-04-01
Start Page: 817
End Page: 820
Language: English
DOI: 10.1007/s00256-023-04443-z
PUBMED: 37672091
PROVIDER: scopus
PMCID: PMC11376466
DOI/URL:
Notes: The MSK Cancer Center Support Grant (P30 CA008748) is acknowledged in the PubMed record. Corresponding MSK author is Gerald Behr -- Source: Scopus
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MSK Authors
  1. Gerald Gideon Behr
    29 Behr
  2. Maria Luisa Sulis
    42 Sulis
  3. Joseph Hai Oved
    35 Oved
  4. Marlena Isabel Kuhn
    2 Kuhn