Brown vialetto van laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders

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. peripherally week reduced tone. Upper extremity muscles were effected more than lower limbs. deteriorated became quadriplegic. Brain magnetic resonance imaging spectroscopy normal. Echocardiography revealed left ventricular non-compaction. A homozygous c.1088C>T (p.363L) missense mutation identified SLC52A2 gene. Significant improvement seen high dose riboflavin. CONCLUSIONS: This first reported BVVLS case ventricle-non compaction which may be secondary chain deficiency. Riboflavin deficiencies should considered differential diagnosis mitochondrial disorders thought during follow-up BVVLS.