Clinical neurology and neurosurgery · 2025
Delayed diagnosis of ataxia with oculomotor apraxia type 2 in a Peruvian patient, a case report.
Клинический случайСтатьяНазвание и аннотация: Перевод в очереди
Обработка статьи · этапы, ошибки и управление
Загрузка состояния…
Ошибки и ограничения
История · было → стало
Состояние обновляется каждые 5 секунд, пока блок открыт. Процент показывается только там, где известен объём работы. Пауза останавливает продолжение этапа; текущий запрос к источнику может завершиться.
Cruz-Criollo Leonardo, Dávila-Salazar Wilhelm, Sarapura-Castro Elison, Rivera-Valdivia Andrea, Bazalar-Montoya Jeny, Bluske Krista, Taylor Julie, Thorpe Erin, Kesari Akanchha, Taft Ryan J, Cornejo-Olivas Mario
Аннотация
INTRODUCTION: Ataxia with oculomotor apraxia type 2 (AOA2) is a rare autosomal recessive cerebellar ataxia characterized by progressive cerebellar ataxia, sensorimotor peripheral neuropathy, and occasional oculomotor apraxia.
CASE REPORT: A 50-year-old male with a history of orthopedic shoe use since childhood presented with slowly progressive ataxia and neuropathy. Laboratory tests showed elevated serum alpha-fetoprotein levels and increased total cholesterol. Clinical whole genome sequencing identified a c.4853C > G (p.Ser1618Ter) homozygous pathogenic variant in SETX.
CONCLUSION: The case highlights the challenges identifying rare disorders like AOA2 due to limited access to genetic testing and socioeconomic and healthcare barriers.
CASE REPORT: A 50-year-old male with a history of orthopedic shoe use since childhood presented with slowly progressive ataxia and neuropathy. Laboratory tests showed elevated serum alpha-fetoprotein levels and increased total cholesterol. Clinical whole genome sequencing identified a c.4853C > G (p.Ser1618Ter) homozygous pathogenic variant in SETX.
CONCLUSION: The case highlights the challenges identifying rare disorders like AOA2 due to limited access to genetic testing and socioeconomic and healthcare barriers.