Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia

• Main Authors: Amal Y. Kentab (Author), Yara Alsalloum (Author), Mai Labani (Author), Abrar Hudairi (Author), Muddathir H. Hamad (Author), Dima Z. Jamjoom (Author), Ali H. Alwadei (Author), Reem M. Alhammad (Author), Fahad A. Bashiri (Author)
• Format: Book
• Published: Frontiers Media S.A., 2024-04-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

BackgroundBrown-Vialetto-Van Laere (BVVL) syndrome is an extremely rare autosomal recessive progressive motoneuron disease that is caused by a defect in the riboflavin transporter genes SLC52A2 and SLC52A3. BVVL syndrome has a variable age of presentation, and it is characterized by progressive audi...