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

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 La...

Full description

Saved in:
Bibliographic Details
Published in:Annals of clinical and translational neurology 2020-02, Vol.7 (2), p.250-253
Main Authors: Carreau, Christophe, Lenglet, Timothée, Mosnier, Isabelle, Lahlou, Ghizlene, Fargeot, Guillaume, Weiss, Nicolas, Demeret, Sophie, Salachas, François, Veauville‐Merllié, Alice, Acquaviva, Cécile, Nadjar, Yann
Format: Article
Language:English
Subjects:
Amyotrophic lateral sclerosis
Case Study
Disease
Hearing loss
Human health and pathology
Intensive care
Life Sciences
Mutation
Ostomy
Patients
Pediatrics
Respiratory failure
Ventilators
Vitamin B
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:2328-9503
2328-9503
DOI:10.1002/acn3.50977