Brown-Vialetto-Van Laere syndrome (BVVLS) is a very rare form of bulbspinal muscular atrophy which is treated with high doses of riboflavin. It results in motor neuronopathy, polyneuropathy, or even polyradiculopathy, associated with damage to the cranial nerves including the auditory nerve. Originally described in children, BVVLS is increasingly reported in adults.
In an article published in August 2021, clinicians at the Lille Neuromuscular Reference Center report the observation of three adults with BVVLS belonging to two unrelated families, one of whom was consanguineous. In all three cases, the table associated walking disorders and progressive deafness. The diagnosis of BVVLS was made on the basis of genetic studies showing pathological sequence variants of the SLC52A3 gene involved in the transport of riboflavin. Note that in the third patient, only one heterozygous variant was found. More striking in these observations was the finding of signal abnormalities on MRI at the level of the spinal cord and / or nerve roots. Anomalies that also contributed to diagnostic error in these patients.
The authors insist on the ignorance by neurologists, and therefore the under-diagnosis, of this syndrome, however accessible to an effective and inexpensive therapy.
