Cui Dongyan, Wang Songmi, Zhang Ai, Liu Aiguo, Hu Qun
Department of Pediatric Hematology and Oncology, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.
Front Genet. 2022 May 16;13:858668. doi: 10.3389/fgene.2022.858668. eCollection 2022.
Cardinal features of -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 -related disorder. Finally, we found the underlying cause of HLH is acute lymphoblastic leukemia. Probably leukemia was a coincidental finding in this boy with related disorder, but the case herein suggests that individuals with -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.
与[相关疾病名称]相关的疾病的主要特征包括智力残疾、发育迟缓、面部畸形特征、结构性心脏缺陷和结构性脑异常。一名9岁男孩出现智力残疾、发育迟缓、典型的颅面特征、脑畸形、隐睾症、自闭症谱系障碍，最近在半年内还出现了复发性噬血细胞性淋巴组织细胞增生症（HLH）。进一步检查确诊为与[相关疾病名称]相关的疾病。最后，我们发现HLH的根本原因是急性淋巴细胞白血病。白血病在这个患有[相关疾病名称]相关疾病的男孩中可能是一个偶然发现，但本文所述病例表明，患有[相关疾病名称]相关疾病的个体也面临患癌症的风险。由于对受影响病例的调查有限，进一步的详细信息可能使我们能够阐明这种表现。
