Brown Vialetto Van Laere [BVVL] Syndrome
摘要
Brown Vialetto Van Laere (BVVL) syndrome results in a childhood onset, progressive dysfunction of the anterior horn cells with sensorineural hearing loss. The brunt of the disease is often on the cranial nerves but limb amyotrophy can occur. Peripheral sensory involvement has been recently described. Mutations in the SLC52A3 and SLC52A2 gene are causative and the condition responds remarkably to riboflavin supplementation.