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.
