CASE REPORT article
Front. Pediatr.
Sec. Pediatric Nephrology
Case Report: Ataxia Telangiectasia with Severe Hemorrhagic Cystitis
Provisionally accepted
- 1Women and Children’s Hospital, Qingdao Universit, Qingdao, China
- 2The Affiliated Hospital of Qingdao University, Qingdao, China
- 3Qingdao Municipal Hospital, Qingdao, China
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Background: Ataxia telangiectasia (AT) is a rare autosomal recessive genetic disorder caused by variants in the ATM (ataxia-telangiectasia mutated) gene. AT is characterized by progressive cerebellar degeneration, telangiectasia, immunodeficiency, cancer susceptibility, and radiosensitivity. This report presents a case of classic AT complicated by severe hemorrhagic cystitis, a rare clinical manifestation. Genetic analysis revealed novel variants in the ATM gene. Case Presentation: A 12-year-old Han Chinese boy presented with recurrent gross hematuria that progressed in frequency and severity after completion of chemotherapy for T-cell acute lymphoblastic leukemia (ALL). He had developed gait instability from age 2 and brain MRI showed cerebellar atrophy. Genetic testing revealed compound heterozygous ATM variants: c.8357G>T (p.Gly2786Val) (maternal) and IVS54+3A>C (paternal) (NM_000051). Cystoscopy demonstrated multiple telangiectatic lesions of the bladder mucosa with associated yellow-brown sedimentation. Emergency cystoscopic electrocoagulation controlled the bleeding.. Conclusion: We report two novel ATM variants (c.8357G>T, IVS54+3A>C) in a patient with classic AT who developed severe hemorrhagic cystitis associated with bladder wall telangiectasia. AT patients may be at risk for delayed, potentially life‑ threatening hemorrhagic cystitis, particularly following cyclophosphamide exposure. Cystoscopy is essential for diagnosis and enables timely endoscopic management.
Keywords: Ataxia Telangiectasia, ATM gene, Cystoscopy, Hematuria, hemorrhagic cystitis
Received: 06 Nov 2025; Accepted: 26 Jan 2026.
Copyright: © 2026 Song, Lin and Xian. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
* Correspondence: Yuwei Xian
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