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

TL;DR

This paper discusses the diagnostic challenges of ataxia-telangiectasia in a child with symptoms but no access to genetic testing.

Contribution

The paper presents a clinical case highlighting the difficulties in diagnosing A-T without genetic confirmation in resource-limited settings.

Findings

The patient exhibited symptoms consistent with ataxia-telangiectasia, including gait issues and telangiectasias.

Elevated alpha-fetoprotein and cerebellar atrophy were observed, but ATM gene testing was unavailable.

The case underscores the need for accessible genetic testing in diagnosing rare disorders like A-T.

Abstract

Ataxia-telangiectasia (A-T) is a rare autosomal recessive disorder characterized by cerebellar ataxia and oculocutaneous telangiectasias, with increased malignancy risk from radiation-induced DNA double-strand breaks. Its multisystem involvement makes diagnosis challenging, and confirmation requires identifying biallelic pathogenic variants in the ATM gene. We report an eight-year-old boy with unsteady gait and bilateral ocular telangiectasia. He had no recurrent infections, and immunoglobulin (Ig) levels were normal, except for low IgA. Although serum alpha-fetoprotein was elevated and MRI demonstrated cerebellar atrophy, findings suggestive of A-T, definitive genetic testing for ATM mutations was not available

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