Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related Disorder
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 craniofacia...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2022-05-01
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| Series: | Frontiers in Genetics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fgene.2022.858668/full |
| _version_ | 1811233927058161664 |
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| author | Dongyan Cui Songmi Wang Ai Zhang Aiguo Liu Qun Hu |
| author_facet | Dongyan Cui Songmi Wang Ai Zhang Aiguo Liu Qun Hu |
| author_sort | Dongyan Cui |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-04-12T11:28:22Z |
| format | Article |
| id | doaj.art-1c4d94e91607460ebf0877457c3254df |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-04-12T11:28:22Z |
| publishDate | 2022-05-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-1c4d94e91607460ebf0877457c3254df2022-12-22T03:35:06ZengFrontiers Media S.A.Frontiers in Genetics1664-80212022-05-011310.3389/fgene.2022.858668858668Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related DisorderDongyan CuiSongmi WangAi ZhangAiguo LiuQun HuCardinal 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.https://www.frontiersin.org/articles/10.3389/fgene.2022.858668/fullCDK13-related disorderHLH hemophagocytic lymphohistiocytosisacute lymphobastic leukemiacraniofacial dysmorphic featureschildren |
| spellingShingle | Dongyan Cui Songmi Wang Ai Zhang Aiguo Liu Qun Hu Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related Disorder Frontiers in Genetics CDK13-related disorder HLH hemophagocytic lymphohistiocytosis acute lymphobastic leukemia craniofacial dysmorphic features children |
| title | Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related Disorder |
| title_full | Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related Disorder |
| title_fullStr | Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related Disorder |
| title_full_unstemmed | Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related Disorder |
| title_short | Case Report: Hemophagocytic Lymphohistiocytosis Prior to the Onset of Leukemia in a Boy With CDK13-Related Disorder |
| title_sort | case report hemophagocytic lymphohistiocytosis prior to the onset of leukemia in a boy with cdk13 related disorder |
| topic | CDK13-related disorder HLH hemophagocytic lymphohistiocytosis acute lymphobastic leukemia craniofacial dysmorphic features children |
| url | https://www.frontiersin.org/articles/10.3389/fgene.2022.858668/full |
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