Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation
Sign Up to like & getrecommendations! Published in 2018 at "BMJ Case Reports"
DOI: 10.1136/bcr-2018-224958
Abstract: Brown-Vialetto-Van Laere syndrome (BVVLS) or riboflavin transporter deficiency (OMIM 211530) is a rare treatable autosomal recessive neurodegenerative disorder. This condition is associated with progressive pontobulbar palsy. We describe the clinical course of a 16-month-old boy… read more here.
Keywords: syndrome novel; presentation; laere syndrome; vialetto van ... See more keywords
Child Neurology: Brown-Vialetto-Van Laere syndrome
Sign Up to like & getrecommendations! Published in 2018 at "Neurology"
DOI: 10.1212/wnl.0000000000006498
Abstract: Brown-Vialetto-Van Laere syndrome (BVVL) is a rare, progressive neurodegenerative disease with fewer than 100 cases reported in the literature. It is characterized by pontobulbar palsy and sensorineural hearing loss.1 The age at onset varies from… read more here.
Keywords: neurology; laere syndrome; vialetto van; van laere ... See more keywords