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Year : 2020  |  Volume : 68  |  Issue : 5  |  Page : 1217--1219

Brown–Vialetto–Van Laere syndrome: A rare case report of MND mimic

Department of Neurology, Andhra Medical College, Visakhapatnam, Andhra Pradesh, India

Correspondence Address:
Dr. Butchi Raju Garuda
Department of Neurology, 2nd Floor, Superspeciality Block, King George Hospital, Andhra Medical College, Maharanipeta, Visakhapatnam - 530 002, Andhra Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/0028-3886.299175

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Brown‐Vialetto‐Van Laere Syndrome (BVVLS) is a rare disorder characterized by progressive neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory insufficiency associated with mutations in SLC52A2 and SLC52A3 genes that code for human riboflavin transporters RFVT2 and RFVT3, respectively. Nearly 70 cases have been reported by molecular diagnosis.[2],[3] The majority of familial cases are autosomal recessive[2],[4] with female to male ratio of 3:1.[5] We describe the clinical course of a 16-year-old boy with BVVLS who presented with 6 years duration of insidious onset gradually progressive sensory neural hearing loss, optic atrophy, amyotrophy of both upper limbs, and wasting of the tongue with fasciculations. Novel homozygous mutation c.1245C>T in the SLC52A2 gene was identified. At times, the clinical spectrum mimics the juvenile onset motor neuron disease (MND) as in this case. It was important to identify the BVVLS that can respond to high doses of riboflavin.


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Online since 20th March '04
Published by Wolters Kluwer - Medknow