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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