A case of Cerebellar Ataxia with isoleted vitamin E deficiency in Emergency departement.

Abstract

We report the case of a 27 -year-old patient who consults for cerebellar ataxia with isolated vitamin E deficiency (AVED).itis a rare autosomal recessive condition that is caused by a mutation in the alpha-tocopherol transfer protein gene[1].Cerebellar ataxia represents an important neurological presentation in the emergency.the examination finds a cerebellar ataxia, pyramidal spasticity, and evidence of a neuropathy with absent deep tendon reflexes[2]. Diagnosis is based on physical examination, on vitamin E plasma dosage and on exclusion of known causes of malabsorption. Laboratory findings reveal a very marked deficiency of vitamin E in plasma. Neuro imaging show an obvious cerebellar atrophy[2].us the case we describe .the patient had clumsiness in walking.He was ataxic with impaired tandem walking. Laboratory investigations revealed, serum vitamin E of 6.89 mg/l (normal: 8.9-18.3mg/l), Computed Tomography of the head showed cerebellar vermian atrophy. High doses of vitamin E supplementation (800 mg daily) have been shown to reverse the neurological signs of AVED [3].