The Turkish Journal of Pediatrics 2021 , Vol 63 , Num 2
Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders
Berna Şeker Yılmaz 1-2 ,Serdar Ceylaner 3 ,Neslihan Önenli Mungan 4
1 Genetics and Genomic Medicine Department, University College London, London, United Kingdom
2 Department of Pediatric, Metabolism, Mersin University Faculty of Medicine, Mersin
3 Department of Genetics, Intergen Genetics Centre, Ankara
4 Department of Pediatric Metabolism, Çukurova University Faculty of Medicine, Adana, Turkey
DOI : 10.24953/turkjped.2021.02.016 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. Keywords : Brown-Vialetto-Van Laere syndrome, riboflavin, left ventricle-non compaction, mitochondrial disorders

Copyright © 2016