Ataxia telangiectasia: a rare case report from Nepal
Apil Upreti1, Prince Mandal1, Amit Upreti2
1Maharajgunj Medical Campus, Tribhuvan University, Institute of Medicine, Maharajgunj.
Annals of Medicine and Surgery (2012)
|April 5, 2024
Summary
Ataxia telangiectasia (A-T) is a rare neurodegenerative disease. Early diagnosis and comprehensive management, including genetic counseling, are crucial for patients with A-T due to its complex nature and poor prognosis.
Area of Science:
- Genetics
- Neurology
- Immunology
Background:
- Ataxia telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder.
- It is characterized by ataxia, oculocutaneous telangiectasia, immunodeficiency, and cancer predisposition.
- Mutations in the ataxia telangiectasia mutated (ATM) gene on chromosome 11q22-23 cause A-T.
Observation:
- A 19-year-old female presented with progressive spasticity since 18 months, leading to wheelchair dependence.
- Clinical features included ocular telangiectasia, dystonic posture, and dysarthria.
- Diagnosis was supported by elevated alpha-fetoprotein levels and characteristic brain imaging findings.
Findings:
- A-T presents with varied clinical manifestations depending on age and specific gene mutations.
- Diagnosis requires a combination of characteristic symptoms, laboratory results (e.g., alpha-fetoprotein), and neuroimaging.
- Individuals with A-T exhibit increased sensitivity to radiation and a higher risk of lymphoid cancers.
Implications:
- There is currently no cure for Ataxia telangiectasia.
- Genetic counseling is essential for affected families.
- Supportive care, careful surveillance for infections and cancers, and cautious radiation use are imperative for managing A-T patients.
