Ataxia telangiectasia: A diagnostic challenge. Case report
Introduction: Ataxia-telangiectasia (AT) is a neurodegenerative syndrome with low incidence and prevalence worldwide, which is caused by a mutation of the ATM gene. It is an autosomal recessive disorder that is associated with defective cell regeneration and DNA repair mechanisms. It is characteriz...
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Universidad Nacional de Colombia
2020-07-01
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| Online Access: | https://revistas.unal.edu.co/index.php/care/article/view/83219 |
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| author | Natalia Martínez-Córdoba Eugenia Espinosa-García |
| author_facet | Natalia Martínez-Córdoba Eugenia Espinosa-García |
| author_sort | Natalia Martínez-Córdoba |
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Introduction: Ataxia-telangiectasia (AT) is a neurodegenerative syndrome with low incidence and prevalence worldwide, which is caused by a mutation of the ATM gene. It is an autosomal recessive disorder that is associated with defective cell regeneration and DNA repair mechanisms. It is characterized by progressive cerebellar ataxia, abnormal eye movements, oculocutaneous telangiectasias and immunodeficiency. Early diagnosis is critical to initiate a timely interdisciplinary treatment, improve acute symptoms, and control the multiple comorbidities of the disease. The following is the case of a patient who presented with the aforementioned characteristics and had an adequate response to the established medical treatment.
Case presentation: A 7-year-old female patient from Bogotá, who presented clinical signs of global neurodevelopmental delay, cerebelar ataxia, frequent respiratory infections and ocular telangiectasias. Symptoms were associated with elevation of alpha fetoprotein and immunodeficiency, which allowed for a diagnosis of AT and the initiation of a timely interdisciplinary treatment.
Conclusion: AT is a chromosomal instability syndrome with characteristic signs and symptoms. It is essential to know the etiopathogenesis, clinical manifestations, diagnostic criteria, and therapeutic options, emphasizing that early detection and clinical suspicion could favor the proper management of the comorbidities and improve the progressive course of the disease.
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| format | Article |
| id | doaj-art-6dea49c3d6f0486ebb151f2c97598d28 |
| institution | DOAJ |
| issn | 2462-8522 |
| language | English |
| publishDate | 2020-07-01 |
| publisher | Universidad Nacional de Colombia |
| record_format | Article |
| series | Case Reports |
| spelling | doaj-art-6dea49c3d6f0486ebb151f2c97598d282025-08-20T02:48:09ZengUniversidad Nacional de ColombiaCase Reports2462-85222020-07-016210.15446/cr.v6n2.83219Ataxia telangiectasia: A diagnostic challenge. Case reportNatalia Martínez-Córdoba0https://orcid.org/0000-0002-2446-7890Eugenia Espinosa-García1https://orcid.org/0000-0003-0890-6475Universidad Militar Nueva Granada - Faculty of Medicine - Pediatric Neurology Research Group - Bogotá D.C. - Colombia. Hospital Militar Central - Pediatric Neurology Service - Bogotá D.C. - ColombiaUniversidad Militar Nueva Granada - Faculty of Medicine - Pediatric Neurology Research Group - Bogotá D.C. - Colombia. Hospital Militar Central - Pediatric Neurology Service - Bogotá D.C. - Colombia. Universidad del Rosario - Medical School - Bogotá D.C. - Colombia Introduction: Ataxia-telangiectasia (AT) is a neurodegenerative syndrome with low incidence and prevalence worldwide, which is caused by a mutation of the ATM gene. It is an autosomal recessive disorder that is associated with defective cell regeneration and DNA repair mechanisms. It is characterized by progressive cerebellar ataxia, abnormal eye movements, oculocutaneous telangiectasias and immunodeficiency. Early diagnosis is critical to initiate a timely interdisciplinary treatment, improve acute symptoms, and control the multiple comorbidities of the disease. The following is the case of a patient who presented with the aforementioned characteristics and had an adequate response to the established medical treatment. Case presentation: A 7-year-old female patient from Bogotá, who presented clinical signs of global neurodevelopmental delay, cerebelar ataxia, frequent respiratory infections and ocular telangiectasias. Symptoms were associated with elevation of alpha fetoprotein and immunodeficiency, which allowed for a diagnosis of AT and the initiation of a timely interdisciplinary treatment. Conclusion: AT is a chromosomal instability syndrome with characteristic signs and symptoms. It is essential to know the etiopathogenesis, clinical manifestations, diagnostic criteria, and therapeutic options, emphasizing that early detection and clinical suspicion could favor the proper management of the comorbidities and improve the progressive course of the disease. https://revistas.unal.edu.co/index.php/care/article/view/83219Ataxia telangiectasiaNeurodegenerative diseasesCerebellar ataxiaSpinocerebellar degenerationsTelangiectasia |
| spellingShingle | Natalia Martínez-Córdoba Eugenia Espinosa-García Ataxia telangiectasia: A diagnostic challenge. Case report Case Reports Ataxia telangiectasia Neurodegenerative diseases Cerebellar ataxia Spinocerebellar degenerations Telangiectasia |
| title | Ataxia telangiectasia: A diagnostic challenge. Case report |
| title_full | Ataxia telangiectasia: A diagnostic challenge. Case report |
| title_fullStr | Ataxia telangiectasia: A diagnostic challenge. Case report |
| title_full_unstemmed | Ataxia telangiectasia: A diagnostic challenge. Case report |
| title_short | Ataxia telangiectasia: A diagnostic challenge. Case report |
| title_sort | ataxia telangiectasia a diagnostic challenge case report |
| topic | Ataxia telangiectasia Neurodegenerative diseases Cerebellar ataxia Spinocerebellar degenerations Telangiectasia |
| url | https://revistas.unal.edu.co/index.php/care/article/view/83219 |
| work_keys_str_mv | AT nataliamartinezcordoba ataxiatelangiectasiaadiagnosticchallengecasereport AT eugeniaespinosagarcia ataxiatelangiectasiaadiagnosticchallengecasereport |