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(Peripheral neuropathy polyneuropathy )
30,770 results
  • Successful treatment of a genetic childhood ataxia due to riboflavin transporter deficiency. [Journal Article]
  • CACerebellum Ataxias 2018; 5:12
  • Fan J, Fogel BL
  • CONCLUSIONS: Riboflavin transporter deficiency can be fatal if left untreated. The excellent outcome of this case illustrates the importance of identifying this potentially treatable neurologic condition. In this patient, clinical diagnosis was limited by an atypical presentation lacking several common features which was overcome through the use of genomic sequencing identifying the pathogenic mutation enabling correct diagnosis and subsequent treatment. Riboflavin transporter deficiency should be considered early in the diagnostic evaluation as a treatable form of ataxia in children, even if patients lack typical features.
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