Brown-Vialetto-Van Laere syndrome

The Brown-Vialetto-Van Laere syndrome (BVVL), sometimes better known as Brown's Syndrome, is an exceptionally rare neurological disorder of unknown cause, characterized primarily by deafness and paralysis of the muscles of the face, neck, shoulders and limbs. The neurological manifestations develop insidiously: they usually begin with sensorineural deafness, progress inexorably to paralysis, and often culminate in respiratory failure. The syndrome affects children, adolescents, and younger adults; the age at onset of symptoms in the reported cases has ranged from infancy to the third decade of life. The prognosis is poor — most patients diagnosed with the syndrome die within 10 years. There is no cure.

The gene defective in at least some patients with BVVL has been identified by a team of British researchers: C20orf54. This gene is thought to be involved in transport of riboflavin It has been proposed that Fazio-Londe disease and Brown-Vialetto-Van-Laere syndrome are a phenotypically associated condition.

Treatment
A Dutch group have reported the first promising attempt at treatment of the disorder with high doses of riboflavin. See here for further information

History
The syndrome was first described by Charles Brown in 1894; further accounts by Vialetto and Van Laere followed in 1936 and 1966, respectively. There are fewer than 60 cases reported in the medical literature over the 100 odd years since its first description.