Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders

Abstract

Background. Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare, treatable neurodegenerative disorder with a variable clinical presentation, caused by mutations in three different riboflavin transporter genes.Case. An 11-year-old-boy presented with respiratory insufficiency and a rapidly progressive muscle weakness. He was the fifth child of a consanguineous marriage with a medical history of hearing loss. He was peripherally week with a reduced muscle tone. Upper extremity muscles were effected more than lower limbs. He deteriorated rapidly and became quadriplegic. Brain magnetic resonance imaging and magnetic resonance spectroscopy were normal. Echocardiography revealed left ventricular non-compaction. A homozygous c.1088C>T (p.363L) missense mutation was identified in SLC52A2 gene. Significant clinical improvement was seen with high dose riboflavin.Conclusion. This is the first reported BVVLS case presented with left ventricle-non compaction which may be caused by a secondary respiratory chain deficiency. Riboflavin transporter deficiencies should be considered in the differential diagnosis of mitochondrial disorders and secondary respiratory chain deficiencies should be thought during the follow-up of BVVLS.

Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency

“…A summary of the articles that reported follow-up data in each of the domains is shown in Table S1. Forty-seven of those patients had RTD2 due to biallelic mutations in SLC52A2, [2][3][4]12,[14][15][16][17][18][19][20][21][22][23][24][25][26][27][28][29][30][31][32][33] 46 had RTD3 due to biallelic mutations in SLC52A3 18,20,24,27,31, and one patient had a mutation in both SLC52A2 and SLC52A3. 58 Seventy-six of the 94 patients (80.9%) showed an overall improvement after riboflavin supplementation, and the remaining (19.1%) were stable after riboflavin supplementation.…”