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September 17, 2025CureusOpen Access

Ataxia-Telangiectasia in Resource-Limited Settings: A Diagnostic Challenge

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Authors

EAEbenezer AdeyemiAfe Babalola UniversityRIRacheal IdowuAAAdewale Adefolaji

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Overview

Case report details diagnostic hurdles and implications of genetic testing for ataxia-telangiectasia in children.

Key Points

  • The case highlights delayed diagnosis of ataxia-telangiectasia resulting in potential treatment gaps.
  • Elevated serum alpha-fetoprotein and MRI findings suggest the condition, highlighting diagnostic challenges.
  • Identification of pathogenic variants in the ATM gene is crucial but was unavailable in this case.
  • The report emphasizes the need for awareness and availability of genetic testing in resource-limited settings.

Cite This Study

Adeyemi et al. (2025) studied this question.

synapsesocial.com/papers/68d461b631b076d99fa60641https://doi.org/10.7759/cureus.92265
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Primary Immunodeficiency-Type Ataxia-Telangiectasia Revealed by Splenic Abscesses2024
  2. 2Intrafamilial Variability in Ataxia-Telangiectasia: A Case Report of Three Siblings with Identical ATM Mutations2025
  3. 3Intractable thrombocytopenia in a patient with atypical ataxia-telangiectasia: a case report2025
  4. 4Clinical, Immunological Findings, and Outcomes of Children with Ataxia-Telangiectasia: A Single Center Experience2026
  5. 5Variant ataxia telangiectasia identified during evaluation for short stature2024