Ataxie révélant un déficit constitutionnel en vitamine E

Abstract

Ataxia which is caused by deficiency of vitamin E is an inherited neurodegenerative disorder characterized by impaired ability of coordinate voluntary movements (ataxia) and rare peripheral neuropathy. The responsible gene is located on the long arm of chromosome 8. In the absence of replacement therapy, neurological signs worsen with loss of autonomy. The clinical picture is very similar to Freidreich’s ataxia but there is a cure for deficiency of vitamin E. Ataxia. We report a case of a 14 years old patient of consanguineous parents hospitalized for chronic ataxia. The symptoms started 18 months earlier with a progressive gait disturbances, and balance and hand tremor, dysarthrie, without gastrointestinal symptoms. Clinical examination showed a thracolumbar scoliosis. And pes cavus, neurological examination noticed a kinetic ataxia, absence of tendon reflexes. There was no failure to thrive. The ophthalmologic examination was without abnormalities. The determination of vitamin E level in the blood was low up to 2 pmol/l (N: 16-53 pmol/l). The child has a long term oral vitamin E treatment, and the evolution was marked after two years by an improvement of clinical signs, biological and radiological signs with stoppage of the disease progression. In any case of phenotype Freidreich chronic ataxia, we recommend performing a systematic determination of serum vitamin E level.