World journal of clinical cases · 2020
Ataxia-telangiectasia complicated with Hodgkin's lymphoma: A case report.
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Li Xiao-Ling, Wang Yi-Lin
Аннотация
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.
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.