گزارشی از آتاکسی های قابل درمان در کودکان

گزارشی از آتاکسی های قابل درمان در کودکان

کد: G-1006

نویسندگان: Mahmoud Reza Ashraf, Elham Pourbakhtyaran ℗, Mohammad Rohani, Morteza Heidari ©, Bita Shalbafan, Ali Reza Tavasoli

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خلاصه مقاله:

خلاصه مقاله

Background: Autosomal recessive cerebellar ataxias are a group of heterogeneous early-onset progressive disorders that some of them are treatable. Here, we present clinical presentation, genetic findings, treatment, and outcome of 25 patients with treatable autosomal recessive ataxias recruited from our Neurometabolic registry system and an early-onset cerebellar ataxia study from 2017. Methods and materials: Patients with the diagnosis of progressive cerebellar ataxia had been referred to the ataxia clinic of Children’s Medical Center, Tehran, Iran were registered. After detailed neurological exams and family history, a diagnostic approach to progressive ataxia was done and genetic analysis was performed for confirmation of diagnosis. Then, patients who had treatable ataxia with genetic confirmation entered our study. We administered the drug of choice depending on the type of ataxia and followed the patients regularly. We recorded related data including age, sex, the onset of ataxia, additional features, age of definite diagnosis, genetic testing results, type of treatment, and outcome. Result: During 4 years period of study 135 patients of early-onset ataxia were registered that 25 of them were treatable autosomal recessive cerebellar ataxia. We followed these 25 patients that consisted of Friedrich’s ataxia, Ataxia with vitamin E deficiency (AVED), coenzyme Q10 (CoQ10) deficiency, Niemann-Pick Type C (NPC) disease, and Cerebrotendinous xanthomatosis (CTX). Conclusion: According to our study, patients would benefit from early detection of treatable ataxia, therefore, the diagnostic approach should be more focused on these types of ataxia to achieve better treatment outcomes and decrease the burden of these diseases. Besides, like any chronic disease, close observation, and follow-up is important for this goal. Keywords: ataxia, treatable, children

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