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- Title
Osteopetrorickets: two contradictory patterns—one unifying diagnosis.
- Authors
Behr, Gerald; Kuhn, Marlena; Oved, Joseph H.; Sulis, Maria Luisa
- 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.
- Subjects
SYMPTOMS; DELAYED diagnosis; RICKETS; DIAGNOSIS; OSTEOPETROSIS
- Publication
Skeletal Radiology, 2024, Vol 53, Issue 4, p817
- ISSN
0364-2348
- Publication type
Article
- DOI
10.1007/s00256-023-04443-z