Abstract Background/Aims Myopathies due to inborn errors of metabolism can be difficult differentiate from inflammatory myopathies. Careful history, examination and laboratory tests are required establish the diagnosis. We present a case Riboflavin Transport Deficiency (Brown-Vialetto-Van Laere syndrome) masquerading as an myopathy. Methods A 37-year-old lady presented with severe proximal musc...

BACKGROUND: Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare, treatable neurodegenerative disorder with variable clinical presentation, caused by mutations in three different riboflavin transporter genes. CASE: An 11-year-old-boy presented respiratory insufficiency and rapidly progressive muscle weakness. He was the fifth child of consanguineous marriage medical history hearing loss. peri...