Brown Vialetto Van Laere syndrome, a fatal disease with a simple solution: a case series

ABSTRACT

Brown Vialetto Van Laere (BVVL) syndrome is an extremely rare neuro metabolic disorder postulated to be caused by a defect in riboflavin transporter. The disease is characterized by progressive hearing loss with ataxia and difficulty in swallowing and breathing. The diagnosis of the disease requires great deal of suspicion on the part of treating physician. Here authors present 2 cases of BVVL who presented to us with dysphagia and hearing loss and responded to therapy. Brown Vialetto Van Laere (BVVL) syndrome is an extremely rare neuro metabolic disorder postulated to be caused by a defect in Riboflavin transporter. The disease is characterised by progressive hearing loss with ataxia and difficulty in swallowing and breathing. It is a subset in multiple acyl CoA dehydrogenase deficiency (MADD disorder). Age of onset is generally first to third decade of life. Lower cranial nerve involvement with LMN and UMN signs concomitantly is the striking feature. There is no specific treatment for BVVL except supportive care. Response to high dose riboflavin (20mg/kg/day) has produced promising results but the results may take anywhere from 1 week to 12 months to appear.