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.
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Behr, G., Kuhn, M., Oved, J.H. et al. Osteopetrorickets: two contradictory patterns—one unifying diagnosis. Skeletal Radiol 53, 817–820 (2024). https://doi.org/10.1007/s00256-023-04443-z
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DOI: https://doi.org/10.1007/s00256-023-04443-z