AUTHOR=Cui Dongyan , Wang Songmi , Zhang Ai , Liu Aiguo , Hu Qun 

TITLE=Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related Disorder

JOURNAL=Frontiers in Genetics

VOLUME=13

YEAR=2022

URL=https://www.frontiersin.org/journals/genetics/articles/10.3389/fgene.2022.858668

DOI=10.3389/fgene.2022.858668

ISSN=1664-8021

ABSTRACT=<p>Cardinal features of <italic>CDK13</italic>-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 <italic>CDK13</italic>-related disorder. Finally, we found the underlying cause of HLH is acute lymphoblastic leukemia. Probably leukemia was a coincidental finding in this boy with <italic>CDK13-</italic>related disorder, but the case herein suggests that individuals with <italic>CDK13</italic>-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.</p>