一名5个月大的婴儿在X线检查中出现骨骼异常，这表现为骨质弥漫致密以及佝偻病，这与病史和实验室检查表明可能是白血病的情况存在明显矛盾。下一代基因组测序分析发现一种TCIRG1突变，与常染色体隐性遗传的骨过密症一致。这种悖论般的X线结果突出了TCIRG突变发病机制的一种新揭示。这个病例强调了在困惑的临床表现中识别这种放射学上的看似矛盾的关联的重要性。未能迅速识别这种模式可能导致诊断延迟，从而可能造成器官功能永久性受损。© 2023. The Author(s), under exclusive licence to International Skeletal Society (ISS).

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.© 2023. The Author(s), under exclusive licence to International Skeletal Society (ISS).