A juvenile ALS-like phenotype dramatically improved after high-dose riboflavin treatment

Ann Clin Transl Neurol. 2020 Feb;7(2):250-253. doi: 10.1002/acn3.50977. Epub 2020 Feb 5.


Riboflavin transporter deficiency (RTD) was recently characterized as a cause of genetic recessive childhood-onset motor neuron disease (MND) with hearing loss, formerly described as Brown-Vialetto-Van-Lear syndrome. We describe a 18-year-old woman with probable RTD mimicking juvenile Amyotrophic Lateral Sclerosis (ALS) who presented with an inaugural respiratory failure and moderate distal four limbs weakness. Only one heterozygous SLC52A3 mutation was detected, but presence of a sub-clinical auditory neuropathy and dramatic improvement under high dose riboflavin argued for a RTD. As RTD probably has a larger phenotypic spectrum than expected, a high dose riboflavin trial should be discussed in young-onset MND.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Age of Onset
  • Amyotrophic Lateral Sclerosis / drug therapy
  • Bulbar Palsy, Progressive / drug therapy
  • Female
  • Hearing Loss, Sensorineural / drug therapy
  • Humans
  • Membrane Transport Proteins / deficiency*
  • Motor Neuron Disease / drug therapy*
  • Riboflavin / administration & dosage
  • Riboflavin / pharmacology*
  • Vitamin B Complex / administration & dosage
  • Vitamin B Complex / pharmacology*


  • Membrane Transport Proteins
  • Vitamin B Complex
  • Riboflavin

Supplementary concepts

  • Brown-Vialetto-Van Laere syndrome