Ataxia-telangiectasia complicated with Hodgkin's lymphoma:A case report  

作　　者：Xiao-Ling Li Yi-Lin Wang 

机构地区：[1]Department of Pediatrics(III),The Linyi People’s Hospital,Linyi 276000,Shandong Province,China

出　　处：《World Journal of Clinical Cases》2020年第11期2387-2391,共5页世界临床病例杂志

摘　　要：BACKGROUND Ataxia-telangiectasia(AT)is a rare,autosomal recessive,multisystem disorder.Because most clinicians have low awareness of the disease,only scarce reports of AT exist in the literature,especially of cases with lymphoma/leukemia.CASE SUMMARY A 7-year-old girl with a history of recurrent respiratory tract infections was referred to our department because of unstable walking for 5 years and enlarged neck nodes for 2-mo duration.Physical examination revealed scleral telangiectasia and cerebellar ataxia.Elevated alpha-fetoprotein,decreased serum immunoglobulin,and decreased T cell function were the major findings of laboratory examination.Histological analysis of cervical lymph node biopsy was suggestive of classical Hodgkin's lymphoma.Genetic examination showed heterozygous nucleotide variation of c.6679C>T and heterozygous nucleotide variation of c.5773 delG in the ATM gene;her parents were heterozygotes.The final diagnosis was AT with Hodgkin's lymphoma.CONCLUSION Clinicians should strengthen their understanding of AT diseases.Gene diagnosis plays an important role in its diagnosis and treatment.

关 键 词：ATAXIA-TELANGIECTASIA Hodgkin's lymphoma CHILD Case report ATM gene 

分 类 号：R596.1[医药卫生—内科学] R733.1[医药卫生—临床医学]