Reversible posterior column dysfunction in Brown–Vialetto–Von Laere syndrome

Khadilkar, Satish V; Faldu, Hinaben Dayalal; Udani, Vrajesh; Patil, Sharad D.; Malvadkar, Sharad M.

doi:10.1002/mus.25694

Cited by 5 publications

(5 citation statements)

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“…There have since been a further 10 publications reporting on 23 newly diagnosed RTD2 cases, and 12 reporting on 27 newly diagnosed RTD3 cases . A patient harboring a heterozygous pathogenic mutation in SLC52A3 and heterozygous SLC52A2 variant of unknown significance has been described, which will be considered as a RTD3 case here.…”

Section: Riboflavin Transporter Deficienciesmentioning

confidence: 99%

“…13,[18][19][20][21][24][25][26][27][28][29][30][31][32][33][34][35][36] There have since been a further 10 publications reporting on 23 newly diagnosed RTD2 cases, 37-46 and 12 reporting on 27 newly diagnosed RTD3 cases. 41,43,[46][47][48][49][50][51][52][53][54][55] A patient harboring a heterozygous pathogenic mutation in SLC52A3 and heterozygous SLC52A2 variant of unknown significance has been described, 37 which will be considered as a RTD3 case here. The possibility that both heterozygous mutations within the two different riboflavin genes are synergistically disrupting the same metabolic pathway to a pathogenic level cannot be excluded, however.…”

Section: Genetically Diagnosed Cases Of Rtdmentioning

confidence: 99%

“…25 Intense T2-weighted signals have also been noted in cortical, subcortical (basal ganglia and internal capsule), and brainstem (vestibular nuclei and central tegmental tract) regions of some RTD3 patients. 33,35,43,51 Spinal MRI has been conducted much less frequently, but abnormal T2-weighted intensities have been described in ventral nerve roots and dorsal regions of the spinal cord 29,33,35,46,52 in accordance with the sensorimotor phenotype of RTD.…”

Section: Neurodiagnostic Testsmentioning

confidence: 99%

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An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

O’Callaghan

Bosch

Houlden

2019

J of Inher Metab Disea

132

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Riboflavin transporter deficiency (RTD) is a rare neurological condition that encompasses the Brown‐Vialetto‐Van Laere and Fazio‐Londe syndromes since the discovery of pathogenic mutations in the SLC52A2 and SLC52A3 genes that encode human riboflavin transporters RFVT2 and RFVT3. Patients present with a deteriorating progression of peripheral and cranial neuropathy that causes muscle weakness, vision loss, deafness, sensory ataxia, and respiratory compromise which when left untreated can be fatal. Considerable progress in the clinical and genetic diagnosis of RTDs has been made in recent years and has permitted the successful lifesaving treatment of many patients with high dose riboflavin supplementation. In this review, we first outline the importance of riboflavin and its efficient transmembrane transport in human physiology. Reports on 109 patients with a genetically confirmed diagnosis of RTD are then summarized in order to highlight commonly presenting clinical features and possible differences between patients with pathogenic SLC52A2 (RTD2) or SLC52A3 (RTD3) mutations. Finally, we focus attention on recent work with different models of RTD that have revealed possible pathomechanisms contributing to neurodegeneration in patients.

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Section: Riboflavin Transporter Deficienciesmentioning

confidence: 99%

Section: Genetically Diagnosed Cases Of Rtdmentioning

confidence: 99%

Section: Neurodiagnostic Testsmentioning

confidence: 99%

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An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

O’Callaghan

Bosch

Houlden

2019

J of Inher Metab Disea

132

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“…A summary of the articles that reported follow‐up data in each of the domains is shown in Table S1. Forty‐seven of those patients had RTD2 due to biallelic mutations in SLC52A2 , 2–4,12,14–33 46 had RTD3 due to biallelic mutations in SLC52A3 18,20,24,27,31,34–57 and one patient had a mutation in both SLC52A2 and SLC52A3 58 . Seventy‐six of the 94 patients (80.9%) showed an overall improvement after riboflavin supplementation, and the remaining (19.1%) were stable after riboflavin supplementation.…”

Section: Resultsmentioning

confidence: 99%

Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency

Fennessy

Cornett

Burns

et al. 2023

J Peripheral Nervous Sys

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Background and AimsRiboflavin Transporter Deficiency (RTD) is a progressive inherited neuropathy of childhood onset, characterised by pontobulbar palsy, sensorineural deafness, sensory ataxia, muscle weakness, optic atrophy and respiratory failure. Riboflavin supplementation has been shown to be beneficial in short‐term reports but the quantum of benefit in various clinical domains is not well understood.MethodsA PubMed search was conducted which identified 94 genetically confirmed cases of RTD who received riboflavin supplementation and had follow‐up assessments. Information on the clinical and functional status before and after riboflavin supplementation was collected and analysed.ResultsSeventy‐six of the 94 patients (80.9%) showed an overall improvement after riboflavin supplementation, and the remaining (19.1%) were stable, though some patients had deteriorations in individual domains with no reported deaths. The domains that had the highest rates of response to riboflavin supplementation were gross motor function (93.3% improved), bulbar palsy (91.3%), and ataxia (90.0%). Improvements were also seen in limb muscle weakness, audiology, facial nerve palsy and respiratory function. Despite treatment, many patients required assistance to ambulate and had severe or profound hearing loss and some remained gastrostomy or tracheostomy‐dependent.InterpretationRiboflavin supplementation is a life‐saving intervention for patients with RTD and results in profound improvement in several functional domains, with early diagnosis and treatment further improving outcomes. Despite treatment, patients are left with residual disability. There is a need to accurately measure functional outcomes in children with RTD and develop additional disease modifying therapies.This article is protected by copyright. All rights reserved.

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“…In contrast, RTD2 may have mild atrophy of the cerebellar vermis ( 25 ), optic nerve abnormalities ( 26 ), and thinning/shortening of the corpus callosum ( 26 ). In general, Spinal MRI in RTD may show abnormal T2-weighted intensities in ventral nerve roots and dorsal regions of the spinal cord ( 22 , 23 , 27 , 28 ). MRI in our patient showed multiple cranial nerves (3rd, 7th, and 9th) and cauda equina enhancement, not consistent with the expected changes seen on the brain MRI of RTD3 patients.…”

Section: Discussionmentioning

confidence: 99%

Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia

Kentab,

Alsalloum,

Labani

et al. 2024

Front. Pediatr.

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BackgroundBrown-Vialetto-Van Laere (BVVL) syndrome is an extremely rare autosomal recessive progressive motoneuron disease that is caused by a defect in the riboflavin transporter genes SLC52A2 and SLC52A3. BVVL syndrome has a variable age of presentation, and it is characterized by progressive auditory neuropathy, bulbar palsy, stridor, muscle weakness, and respiratory compromise secondary to diaphragmatic and vocal cord paralysis. BVVL syndrome has a poor prognosis in the absence of treatment, including morbidity with quadriparesis and sensorineural hearing loss, with mortality in the younger age group. Early administration of riboflavin is associated with prolonged survival, low morbidity, and reversal of some clinical manifestations.Case presentationWe describe an 18-month-old male infant with progressive pontobulbar palsy, loss of developmental milestones, and a clinical picture suggestive of chronic inflammatory demyelinating neuropathy. A nerve conduction study revealed axonal neuropathy, while molecular analysis revealed a homozygous mutation in one of the riboflavin transporter genes, SLC52A3, confirming BVVL syndrome. The patient needed long-term respiratory support and a gastrostomy tube to support feeding. With high-dose riboflavin supplementation, he experienced moderate recovery of motor function.ConclusionThis report highlights the importance of considering BVVL syndrome in any patient who presents with the clinical phenotype of pontobulbar palsy and peripheral axonal neuropathy, as early riboflavin treatment may improve or halt disease progression, thus reducing the associated mortality and morbidity.

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Reversible posterior column dysfunction in Brown–Vialetto–Von Laere syndrome

Cited by 5 publications

References 10 publications

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

An update on the genetics, clinical presentation, and pathomechanisms of human riboflavin transporter deficiency

Benefit of high‐dose oral riboflavin therapy in riboflavin transporter deficiency

Case Report: A rare treatable metabolic syndrome (Brown-Vialetto-Van Laere syndrome) masquerading as chronic inflammatory demyelinating polyneuropathy from Saudi Arabia

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