Ataxia-telangiectasia complicated with Hodgkin's lymphoma:A case report
作者机构：Department of Pediatrics(III)The Linyi People’s HospitalLinyi 276000Shandong ProvinceChina
出 版 物：《World Journal of Clinical Cases》 (世界临床病例杂志)
年 卷 期：2020年第8卷第11期
页 面：2387-2391页
核心收录：
学科分类：1002[医学-临床医学] 100201[医学-内科学(含：心血管病、血液病、呼吸系病、消化系病、内分泌与代谢病、肾病、风湿病、传染病)] 100214[医学-肿瘤学] 10[医学]
主 题：Ataxia-telangiectasia Hodgkin's lymphoma Child Case report ATM gene
摘 要：BACKGROUND Ataxia-telangiectasia(AT)is a rare,autosomal recessive,multisystem *** most clinicians have low awareness of the disease,only scarce reports of AT exist in the literature,especially of cases with lymphoma/*** 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 *** examination revealed scleral telangiectasia and cerebellar *** alpha-fetoprotein,decreased serum immunoglobulin,and decreased T cell function were the major findings of laboratory *** analysis of cervical lymph node biopsy was suggestive of classical Hodgkin s *** examination showed heterozygous nucleotide variation of c.6679CT and heterozygous nucleotide variation of c.5773 delG in the ATM gene;her parents were *** final diagnosis was AT with Hodgkin s *** Clinicians should strengthen their understanding of AT *** diagnosis plays an important role in its diagnosis and treatment.
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