我介绍了一名与神经母细胞瘤相关的18三体患者。据我所知,这是相关文献中关于此类个人的第二份报告。一名已知患有18三体的19个月大女孩因胸腔积液而出现呼吸窘迫。检查显示转移到多个部位的神经母细胞瘤,病人的临床情况很危急。医生-父母的决定是不继续治疗恶性肿瘤。根据这份报告,我建议医生保持警惕,高度怀疑神经母细胞瘤和18三体之间的潜在关联。因此,可能有必要考虑进行连续的腹部超声检查和生化检查,以筛查18三体综合征患儿,这些患儿存活超过婴儿期。
I present a patient with trisomy 18 associated with neuroblastoma. To the best of my knowledge, this is the second report of such an individual in the relevant literature. A 19-month-old girl known to have trisomy 18 presented with respiratory distress secondary to pleural effusion. Work-up showed metastatic neuroblastoma to multiple sites, and the patient\'s clinical situation was critical. The physician-parent\'s decision was not to proceed with treatment of the malignancy. Based on this report, I recommend that physicians remain vigilant and have a high level of suspicion about the potential association between neuroblastoma and trisomy 18. Accordingly, it may be necessary to consider performing serial abdominal ultrasounds and biochemical tests to screen children with trisomy 18 who survive beyond infancy.