多中心腕跗骨溶解症（MCTO）综合征，一般特征为腕部和跗部骨骼逐渐被吸收、面容异常和蛋白尿。该疾病由单等位基因致病MAFB突变引起，导致受体活化因子核因子kappa-B的异常激活过程中骨吸收过度。大多数病例为零星性，具有新生突变，至今尚不清楚为什么腕部和跗部骨骼受到主要影响。MCTO的早期阶段类似于幼年特发性关节炎，包括踝关节和腕关节肿胀和疼痛，甚至出现磁共振成像的炎症变化。本文报道一名小儿患者，曾接受抗风湿药物治疗，最终被诊断为MCTO。该病例为描述性病例，具有球后突眼、显著的蛋白尿和在遗传学诊断时腕跗骨完全消失。与文献类似，我们病例的放射学表现典型，尽管使用了甲氨蝶呤和抗肿瘤坏死因子α的治疗。然而，尚未在文献中报道影响除腕关节和踝关节外的其他关节的关节炎，但我们的病例有双侧骶髂关节炎，在接受阿达木单抗治疗后完全缓解。我们不能确定骶髂关节炎是否是偶然发生或作为疾病的组成部分发生，但我们认为分享我们的经验可能有助于更容易和早期识别MCTO，更多了解MCTO罕见表现，因此我们可能能够澄清早期阶段最有前途的药物Denosumab的好处。© 2023亚太类风湿病联盟和约翰威利澳大利亚有限公司。

Multicentric carpotarsal osteolysis (MCTO) syndrome, is typically characterized by progressive bone resorption in especially carpal and tarsal bones, in addition to abnormal facial appearance and proteinuria. This disorder is caused by monoallelic pathogenic MAFB mutations, which result in excessive osteoclastogenesis via aberrant receptor activator of nuclear factor kappa-B ligand activation. Most cases are sporadic with de-novo mutations, and it is still unclear why carpal and tarsal bones are predominantly affected. The early phases of MCTO resemble juvenile idiopathic arthritis (JIA) with ankle and wrist swelling and pain, even with inflammatory changes in magnetic resonance imaging. Herein we report a pediatric patient, previously treated with antirheumatic drugs, and eventually diagnosed with MCTO. This case was a descriptive case with exophthalmos, significant proteinuria, and total loss of carpal and tarsal bones at the time of genetic diagnosis. Similar to the literature, our case had typical radiological findings despite methotrexate and anti-tumor necrosis factor-alpha treatment. However, while arthritis affecting joints other than wrists and ankles has not been reported so far in the literature, our case had bilateral sacroiliitis which completely resolved after adalimumab treatment. We cannot be sure if sacroiliitis was incidental or occurred as a component of the disease, nonetheless, we think that sharing our experience may lead to easy and early recognition of MCTO, with more knowledge on rare manifestations of MCTO, and thus we may be able to clarify the benefits of denosumab, which is the most promising agent in early phases of the disease.© 2023 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.