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

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

Yılmaz, BŞ; Ceylaner, S; Mungan, NÖ; (2021) Brown vialetto van laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders. The Turkish Journal of Pediatrics , 63 (2) pp. 314-318. 10.24953/turkjped.2021.02.016. Green open access

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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. CONCLUSIONS: 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.

Type:	Article
Title:	Brown vialetto van laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders
Open access status:	An open access version is available from UCL Discovery
DOI:	10.24953/turkjped.2021.02.016
Publisher version:	https://doi.org/10.24953/turkjped.2021.02.016
Language:	English
Additional information:	This version is the version of record. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords:	Brown-Vialetto-Van Laere syndrome, riboflavin, left ventricle-non compaction, mitochondrial disorders
UCL classification:	UCL UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Population Health Sciences > UCL GOS Institute of Child Health > Genetics and Genomic Medicine Dept
URI:	https://discovery.ucl.ac.uk/id/eprint/10127166