Case Report
Copyright ©The Author(s) 2020. Published by Baishideng Publishing Group Inc. All rights reserved.
World J Clin Cases. Jun 6, 2020; 8(11): 2387-2391
Published online Jun 6, 2020. doi: 10.12998/wjcc.v8.i11.2387
Ataxia-telangiectasia complicated with Hodgkin's lymphoma: A case report
Xiao-Ling Li, Yi-Lin Wang
Xiao-Ling Li, Yi-Lin Wang, Department of Pediatrics (III), The Linyi People’s Hospital, Linyi 276000, Shandong Province, China
Author contributions: Li XL conceived of and designed the study, performed the final data analyses, and wrote the manuscript; Wang YL drafted the initial manuscript and carried out the initial analyses.
Informed consent statement: The patient’s guardian agreed to the genetic test and signed a written informed consent form.
Conflict-of-interest statement: The authors declare no conflicts of interest.
CARE Checklist (2016) statement: The authors have read the CARE Checklist (2016), and the manuscript was prepared and revised according to the CARE Checklist (2016).
Open-Access: This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/
Corresponding author: Yi-Lin Wang, MD, Assistant Professor, Chief Physician, Department of Pediatrics (III), The Linyi People’s Hospital, No. 27, Jiefang Road, Linyi 276000, Shandong Province, China. lxl801527@hotmail.com
Received: March 2, 2020
Peer-review started: March 2, 2020
First decision: April 22, 2020
Revised: May 9, 2020
Accepted: May 16, 2020
Article in press: May 16, 2020
Published online: June 6, 2020
Processing time: 97 Days and 20.9 Hours
Abstract
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.

Keywords: Ataxia-telangiectasia; Hodgkin's lymphoma; Child; Case report; ATM gene

Core tip: Ataxia-telangiectasia (AT) is a rare, autosomal recessive, multisystem disorder. Homozygous or compound heterozygous mutations of the ATM gene is the pathogenic factor and there is no specific treatment for AT. Through this study of a case of AT complicated with Hodgkin's lymphoma, it is suggested that clinicians should strengthen their understanding of AT diseases.