Cardinal features of CDK13-related disorders are characterized by intellectual disability, developmental delay, dysmorphic facial features, structural heart defect and structural brain abnormality. A 9-year-old boy presented with intellectual disability, development delay, characteristic craniofacial features, brain malformation, cryptorchidism, autism spectrum disorder, and recently, recurrent hemophagocytic lymphohistiocytosis (HLH) in a half year period. Further investigation revealed the diagnosis of CDK13-related disorder. Finally, we found the underlying cause of HLH is acute lymphoblastic leukemia. Probably leukemia was a coincidental finding in this boy with CDK13-related disorder, but the case herein suggests that individuals with CDK13-related disorder also face risk of developing cancers. Further detailed information could enable us to clarify this presentation because of only limited investigation in affected cases.
第一作者单位：[1]Huazhong Univ Sci & Technol,Tongji Hosp,Tongji Med Coll,Dept Pediat Hematol & Oncol,Wuhan,Peoples R China
通讯作者：
推荐引用方式(GB/T 7714)：
Cui Dongyan,Wang Songmi,Zhang Ai,et al.Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related Disorder[J].FRONTIERS IN GENETICS.2022,13:doi:10.3389/fgene.2022.858668.
APA：
Cui, Dongyan,Wang, Songmi,Zhang, Ai,Liu, Aiguo&Hu, Qun.(2022).Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related Disorder.FRONTIERS IN GENETICS,13,
MLA：
Cui, Dongyan,et al."Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related Disorder".FRONTIERS IN GENETICS 13.(2022)
