{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T07:55:44Z","timestamp":1772092544659,"version":"3.50.1"},"reference-count":14,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T00:00:00Z","timestamp":1772064000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Pediatr."],"abstract":"<jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>\n                      Ataxia telangiectasia (AT) is a rare autosomal recessive genetic disorder caused by variants in the ataxia-telangiectasia mutated (\n                      <jats:italic>ATM<\/jats:italic>\n                      ) 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\n                      <jats:italic>ATM<\/jats:italic>\n                      gene.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case presentation<\/jats:title>\n                    <jats:p>\n                      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\n                      <jats:italic>ATM<\/jats:italic>\n                      variants: c.8357G&amp;gt;T (p.Gly2786Val) (maternal) and IVS54+3A&amp;gt;C (paternal) (NM_000051). Cystoscopy revealed multiple telangiectatic lesions of the bladder mucosa with associated yellow-brown sedimentation. Emergency cystoscopic electrocoagulation controlled the bleeding.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>\n                      We report two novel\n                      <jats:italic>ATM<\/jats:italic>\n                      variants (c.8357G&amp;gt;T, IVS54+3A&amp;gt;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.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fped.2026.1740485","type":"journal-article","created":{"date-parts":[[2026,2,26]],"date-time":"2026-02-26T06:55:36Z","timestamp":1772088936000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis"],"prefix":"10.3389","volume":"14","author":[{"given":"Hua","family":"Song","sequence":"first","affiliation":[{"name":"Department of Pediatric Surgery, Women and Children\u2019s Hospital, Qingdao University","place":["Qingdao, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Pediatric Nephrology and Rheumatology, The Affiliated Hospital of Qingdao University","place":["Qingdao, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yuwei","family":"Xian","sequence":"additional","affiliation":[{"name":"Department of Ultrasound, Qingdao Municipal Hospital","place":["Qingdao, China"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2026,2,26]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"159","DOI":"10.1186\/s13023-016-0543-7","article-title":"Ataxia telangiectasia: a review","volume":"11","author":"Rothblum-Oviatt","year":"2016","journal-title":"Orphanet J Rare Dis"},{"key":"B2","doi-asserted-by":"publisher","first-page":"795","DOI":"10.1093\/jnci\/92.10.795","article-title":"Cancer risk and the ATM gene: a continuing debate","volume":"92","author":"Khanna","year":"2000","journal-title":"J Natl Cancer Inst"},{"key":"B3","doi-asserted-by":"publisher","first-page":"316","DOI":"10.1097\/MPH.0000000000001471","article-title":"Bladder artery embolization for massive 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