A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome
Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare disease characterized by progressive axonal neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory failure associated with mutations in the SLC52A2 and SLC52A3 genes that code for the human riboflavin transporters RFVT2 and R...
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| Format: | Article |
| Language: | English |
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University of Oran 1
2022-06-01
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| Series: | Journal de la Faculté de Médecine d'Oran |
| Subjects: | |
| Online Access: | https://confajol3.ajol.info/index.php/jmfo/article/view/708 |
| _version_ | 1811342577653252096 |
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| author | Soreya BELARBI Samira Makri MOKRANE |
| author_facet | Soreya BELARBI Samira Makri MOKRANE |
| author_sort | Soreya BELARBI |
| collection | DOAJ |
| description |
Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare disease characterized by progressive
axonal neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory
failure associated with mutations in the SLC52A2 and SLC52A3 genes that
code for the human riboflavin transporters RFVT2 and RFVT3, respectively. Nearly
70 cases have been reported by molecular diagnosis. The majority of familial cases
are autosomal recessive, with a female to male ratio of 3:1. We describe the clinical
case of a 14 years-old boy with BVVLS who presented from a young age with
progressive sensorineural hearing loss of insidious onset, followed by atrophy of the
tongue with fasciculations. Sometimes the clinical spectrum mimics juvenile-onset
motor neuron disease (MND). It is important to identify BVVLS that may respond to
high doses of riboflavin.
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| first_indexed | 2024-04-13T19:13:16Z |
| format | Article |
| id | doaj.art-20692c778682447eb3a2d46b7bd12f46 |
| institution | Directory Open Access Journal |
| issn | 2571-9874 2602-6511 |
| language | English |
| last_indexed | 2024-04-13T19:13:16Z |
| publishDate | 2022-06-01 |
| publisher | University of Oran 1 |
| record_format | Article |
| series | Journal de la Faculté de Médecine d'Oran |
| spelling | doaj.art-20692c778682447eb3a2d46b7bd12f462022-12-22T02:33:45ZengUniversity of Oran 1Journal de la Faculté de Médecine d'Oran2571-98742602-65112022-06-016110.51782/10.51782/jfmo.v6i1.141708A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndromeSoreya BELARBI0Samira Makri MOKRANE1Service neurologie, EHS ALI AIT IDIR, AlgerService de Neurologie, EHS Ali Ait Idir. Alger Brown-Vialetto-Van Laere syndrome (BVVLS) is a rare disease characterized by progressive axonal neuropathy, optic atrophy, hearing loss, bulbar dysfunction, and respiratory failure associated with mutations in the SLC52A2 and SLC52A3 genes that code for the human riboflavin transporters RFVT2 and RFVT3, respectively. Nearly 70 cases have been reported by molecular diagnosis. The majority of familial cases are autosomal recessive, with a female to male ratio of 3:1. We describe the clinical case of a 14 years-old boy with BVVLS who presented from a young age with progressive sensorineural hearing loss of insidious onset, followed by atrophy of the tongue with fasciculations. Sometimes the clinical spectrum mimics juvenile-onset motor neuron disease (MND). It is important to identify BVVLS that may respond to high doses of riboflavin. https://confajol3.ajol.info/index.php/jmfo/article/view/708Brown-Viletto-Van-Laere syndromeSLC52A2Riboflavin transporter |
| spellingShingle | Soreya BELARBI Samira Makri MOKRANE A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome Journal de la Faculté de Médecine d'Oran Brown-Viletto-Van-Laere syndrome SLC52A2 Riboflavin transporter |
| title | A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome |
| title_full | A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome |
| title_fullStr | A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome |
| title_full_unstemmed | A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome |
| title_short | A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome |
| title_sort | riboflavin responsive neuronopathy with unique characteristics brown vialetto van laere syndrome |
| topic | Brown-Viletto-Van-Laere syndrome SLC52A2 Riboflavin transporter |
| url | https://confajol3.ajol.info/index.php/jmfo/article/view/708 |
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