Brown-Vialetto-Van Laere syndrome. [PDF]
Iran J Child NeurolBrown-Vialetto-Van Laere syndrome (BVVLS) is a rare neurodegenerative disorder of childhood. According to the previous reports, it has various primary signs and symptoms. Because of the simple treatment with riboflavin supplementation, it is important to have suspicious to this disease and begin treatment even before genetic test confirm.
Imannezhad S +5 more
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Brown-Vialetto-Van Laere syndrome: a novel diagnosis to a common presentation. [PDF]
BMJ Case Rep, 2018 Brown-Vialetto-Van Laere syndrome (BVVLS) or riboflavin transporter deficiency (OMIM 211530) is a rare treatable autosomal recessive neurodegenerative disorder. This condition is associated with progressive pontobulbar palsy. We describe the clinical course of a 16-month-old boy with BVVLS and a novel homozygous mutation from Pakistan.
Abbas Q, Jafri SK, Ishaque S, Rahman AJ.
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A Brazilian family with Brown-Vialetto-van Laere syndrome with autosomal recessive inheritance Descrição de uma família brasileira com síndrome de Brown-Vialetto-van Laere com herança autossômica recessiva [PDF]
Arquivos de Neuro-Psiquiatria, 2007 We report the first Brazilian family with Brown-Vialetto-van Laere syndrome. The presence of consanguineous marriages and illness affecting three sisters and one niece support an autosomal recessive transmission.
José Augusto Malheiros +3 more
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Identification of a mutation in TNRC18 in a patient with clinical features of Fazio‐Londe disease [PDF]
Clinical Case ReportsKey Clinical Message Fazio‐Londe disease and Brown‐Vialetto‐Van Laere syndrome are rare related neurological disorders. Although SLC52A3 and SLC52A2 that encode riboflavin transporters are their only known causative genes, many patients without mutations
Marzieh Khani +6 more
doaj +3 more sources
Late-onset and acute presentation of Brown-Vialetto-Van Laere syndrome in a Brazilian family. [PDF]
Neurol Genet, 2018 Riboflavin transporter deficiency (formerly known as Brown-Vialetto-Van Laere [BVVL] or Fazio-Londe syndrome) is a neurodegenerative disorder characterized by progressive bulbar palsy with sensorineural deafness or bulbar hereditary neuropathy.1 It is caused by mutations in the riboflavin transporter genes SLC52A2 ( RFVT2 ) or SLC52A3 ( RFVT3 ).2,3 It ...
Camargos S +3 more
europepmc +7 more sources
Brown-Vialetto-Van Laere Syndrome: Case Report of Dramatic Response to Riboflavin. [PDF]
Iran J Child NeurolBrown-Vialetto-Van Laere syndrome (BVVL) is a rare neurodegenerative disorder caused by riboflavin transporter genes SLC52A2 and SLC52A3 variants. It manifests as a combination of cranial nerve palsies and sensorineural hearing loss. This study presents the case of a 5.5-year-old boy with progressive swallowing difficulties, ptosis, severe hearing loss,
Heidari M +5 more
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Review of Brown-Vialetto-Van Laere syndrome and differential diagnosis
Iranian South Medical Journal, 2011 Background: Brown-Vialetto-Van Laere syndrome is a neurological devastating condition classified as one of motor neuron disorders. In spite of rarity, it has a widespread distribution.
Shahryar Nafisi +3 more
doaj +2 more sources
A riboflavin-responsive neuronopathy with unique characteristics: Brown-Vialetto- Van Laere syndrome
Journal de la Faculté de Médecine d'Oran, 2022 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
Soreya BELARBI, Samira Makri MOKRANE
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Síndrome de Brown-Vialleto-Van Laere: relato de dois casos Brown-Vialetto-van Laere syndrome: report of two cases [PDF]
Arquivos de Neuro-Psiquiatria, 1995 A síndrome de Brown-Vialetto-van Laere é entidade degenerativa hereditária ou esporádica, rara, caracterizada por surdez neuro-sensorial seguida ou acompanhada por uma variedade de alterações de nervos cranianos, podendo ainda ocorrer acometimento de ...
José Teotonio De Oliveira +3 more
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Brown Vialetto Van Laere syndrome: presenting with left ventricular non-compaction and mimicking mitochondrial disorders [PDF]
The Turkish Journal of Pediatrics, 2021 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.
Berna Şeker Yılmaz +2 more
doaj +4 more sources