%0 Case Reports
%T Metastatic adrenal gland neuroblastoma in an infant with trisomy 18: A case report.
%A Tamur S
%J Am J Med Genet A
%V 194
%N 7
%D 2024 07 22
%M 38385606
%F 2.578
%R 10.1002/ajmg.a.63572
%X 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.