Background Ataxia telangiectasia (AT) is a rare autosomal recessive genetic disorder caused by variants in the ataxia-telangiectasia mutated (ATM) 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 at age 2, and brain MRI showed cerebellar atrophy. Genetic testing revealed compound heterozygous ATM variants: c. 8357GT (p. Gly2786Val) (maternal) and IVS54+3AC (paternal) (NM₀00051). Cystoscopy revealed 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. 8357GT, IVS54+3AC) 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.
Building similarity graph...
Analyzing shared references across papers
Loading...
H. Song
Yujie Lin
Yuwei Xian
Frontiers in Pediatrics
SHILAP Revista de lepidopterología
Qingdao University
Affiliated Hospital of Qingdao University
Qingdao Municipal Hospital
Building similarity graph...
Analyzing shared references across papers
Loading...
Song et al. (Thu,) studied this question.
www.synapsesocial.com/papers/69a3d6eaec16d51705d2da8a — DOI: https://doi.org/10.3389/fped.2026.1740485
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: