Ataxia Case Study

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Progressive ataxia due to alpha tocopherol deficiency in Pakistan Introduction Ataxia is a common neurological symptom which is encountered in neurology practice. It has a multiple etiologies, among which vitamin E deficiency is a treatable and relatively reversible cause. Early diagnosis and replacement of vitamin E can alleviate the symptoms, halt the disease progression and can even reverse ataxia associated with it. It closely mimics Frederich's ataxia. Patients should be screened for vitamin E deficiency if workup for fredrich’s ataxia is negative. There have been reports of vitamin E deficiency from Western literature but a pubmed search did not show a case report from Pakistan. Case Report We report a 15 year old boy who came to the…show more content…
There are five main types that can be distinguished according to the type of etiology: congenital (developmental disorder), ataxias due to metabolic disorders, mitochondrial ataxias, ataxias with a DNA repair defect, and degenerative ataxia with unknown etiology (1). Among the hereditary ataxias, autosomal recessive cerebellar ataxias (ARCA) are a complex group of disabling inherited neurodegenerative disorders that mostly present under the age of 20 years. ARCAs are a result of different gene mutations; Friedreichs ataxia ( frataxin gene defect), Ataxia Telangiectasia ( ATM gene defect), ataxia with vitamin E deficiency (Alpha tocopherol transfer protein defect), ataxia with oculomotor apraxia ( senataxin and aprataxin gene defect)…show more content…
Lancet Neurol 2007;6:245-257. 4) Zouari M, Feki M, Ben Hamida C, Larnaout A, Turki I, Belal S, et al. Electrophysiology and nerve biopsy: Comparative study in Friedreich's ataxia and Friedreich's ataxia phenotype with vitamin E deficiency. NeuromusculDisord 1998;8:416-25. 5) Doria-Lamba L, De Grandis E, Cristiani E, Fiocchi I, Montaldi L, Grosso P, et al. Efficacious vitamin E treatment in a child with ataxia with isolated vitamin E deficiency. Eur J Pediatr. 6) Gabsi S, Gouider-Khouja N, Belal S, Fki M, Kefi M, Turki I, et al. Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. Eur J Neurol. 2001;8:477–481. 7) Martinello F, Fardin P, Ottina M, Ricchieri GL, Koenig M, Cavalier L, et al. Supplemental therapy in isolated vitamin E deficiency improves the peripheral neuropathy and prevents the progression of ataxia. J Neurol Sci. 1998;156:177–179. 8) Meydani, Mohsen. Vitamin E. The Lancet 1995;345:170-75. 9) Schuelke M, Mayatepek E, Inter M, Becker M, Pfeiffer E, Speer A, et al. Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. J Pediatr

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