AI Article Synopsis
- Ataxia telangiectasia (A-T) is a rare neurodegenerative disorder that affects children and is caused by mutations in the ATM gene, leading to symptoms like ataxia, telangiectasia, and increased cancer risk.
- A case study of a 19-year-old girl illustrates the severe symptoms of A-T, including spastic movements and slurred speech, supporting the diagnosis through specific lab and imaging findings.
- Management of A-T includes genetic counseling and supportive care, emphasizing the need for careful monitoring due to the disorder's association with infection risks and potential cancers.
Article Abstract
Introduction And Importance: Ataxia telangiectasia (A-T) is a rare autosomal recessive neurodegenerative disorder with early childhood onset. It is characterized by ataxia, oculocutaneous telangiectasia, immunodeficiency, and lymphoid-origin cancer predisposition due to ataxia telangiectasia mutated gene mutations.
Case Presentation: The authors present a 19-year-old girl with spastic movements since 18 months, leading to wheelchair dependence. Ocular telangiectasia, dystonic posture, and slurred speech were evident. Diagnosis involved elevated alpha-fetoprotein levels and typical brain imaging.
Clinical Discussion: A-T due to ataxia telangiectasia mutated gene mutations located on chromosome 11q22-23. It has varied presentations categorized by age and features. Timely diagnosis relies on characteristic symptoms, lab findings, and imaging. Radiation sensitivity and increased cancer risk underscore cautious radiation use.
Conclusion: A-T is a complex disorder with no cure. Genetic counseling for parents is vital. Its poor prognosis due to infection susceptibility and cancer risk necessitates supportive care. Comprehensive management, including genetic counseling and careful surveillance, is imperative.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10990361 | PMC |
| http://dx.doi.org/10.1097/MS9.0000000000001831 | DOI Listing |
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