The Turkish Journal of Pediatrics (Oct 2008)

Ataxia with vitamin E deficiency associated with deafness

  • Bülent Kara,
  • Abdullah Uzümcü,
  • Oya Uyguner,
  • Rasim Ozgür Rosti,
  • Ayça Koçbaş,
  • Meral Ozmen,
  • Hülya Kayserili

Journal volume & issue
Vol. 50, no. 5

Abstract

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Ataxia with vitamin E deficiency (AVED) is a rare autosomal recessive disorder, usually with a phenotype resembling Friedreich ataxia, caused by selective impairment of gastrointestinal vitamin E absorption. Vitamin E supplementation improves symptoms and prevents disease progress. In North Africa and Southern Europe, AVED is as common as Friedreich ataxia. There are no reported cases from Turkey. We herein report a 16-year-old Turkish girl with AVED, who was found to have total deletion of the TTPA gene as well as sensorineural deafness, and we present her follow-up data after vitamin E therapy.