# Case Report: Ataxia telangiectasia with severe hemorrhagic cystitis

## TL;DR

A 12-year-old boy with ataxia telangiectasia developed severe bladder bleeding, revealing new genetic mutations and a rare complication.

## Contribution

Reports two novel ATM gene variants and highlights hemorrhagic cystitis as a rare but severe complication in ataxia telangiectasia.

## Key findings

- Compound heterozygous ATM variants c.8357G>T and IVS54+3A>C identified in a patient with ataxia telangiectasia.
- Severe hemorrhagic cystitis occurred in a patient with ataxia telangiectasia following chemotherapy.
- Cystoscopy diagnosed bladder telangiectasia and enabled emergency treatment to control bleeding.

## Abstract

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.

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.8357G>T (p.Gly2786Val) (maternal) and IVS54+3A>C (paternal) (NM_000051). Cystoscopy revealed multiple telangiectatic lesions of the bladder mucosa with associated yellow-brown sedimentation. Emergency cystoscopic electrocoagulation controlled the bleeding.

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.