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Three cases of adult-onset Brown-Vialetto-Van Laere syndrome: Novel variants in SLC52A3 gene and MRI abnormalities.

Neuromuscular disorders : NMD - 1 Aug 2021

Carey Guillaume, Kuchcinski Gregory, Gauvrit Fanny, Defebvre Luc, Nguyen Sylvie, Dhaenens Claire-Marie, Dessein Anne Frédérique, Vianey-Saban Christine, Acquaviva Cécile, Tard Céline

Abstract excerpt

Brown-Vialetto-Van Laere syndrome is a rare, autosomal, recessive neurological condition caused by variants in the riboflavin transporter genes SLC52A2 and SLC52A3. Here, we report on three cases. Case 1 was a 35-year-old woman from a consanguineous family who presented with progressive deafness, subacute multiple cranial nerve impairments (III, VII, IX, XII), and MRI abnormalities (including as hypersignal from...

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PMID: 34384672
DOI: 10.1016/j.nmd.2021.06.009

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