Evidence map›Paper›PMID 40787273›Full record

ArticleIranian journal of child neurology2025

Brown-Vialetto-Van Laere Syndrome: Case Report of Dramatic Response to Riboflavin.

Morteza Heidari, Masood Ghahvechi Akbari, Golazin ShahbodaghKhan, Masoud Garshasbi, Reza Shervin Badv, Hossein Yousefimanesh

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PubMed Full text at PMC Publisher
In one paragraph

Article in Iranian journal of child neurology, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
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1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

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5 · Who and what money

Authors and funding

6 authors.

Morteza HeidariDepartment of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Masood Ghahvechi AkbariPhysical Medicine and Rehabilitation Department, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran.
Golazin ShahbodaghKhanDepartment of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Masoud GarshasbiDepartment of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran.
Reza Shervin BadvDepartment of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.
Hossein YousefimaneshDepartment of Pediatrics, Division of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Brown-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, and a progressive speech disorder. Remarkably, he showed a significant response to high-dose riboflavin supplementation. Subsequent genetic testing confirmed the diagnosis. Whole exome sequencing identified a homozygous missense variant, [c.239G>A; (p.Gly80Asp)], in the SLC52A3, consistent with BVVL 1. It is essential to remember that BVVL is a set of sensorineural hearing loss and a variety of cranial nerve palsies. Riboflavin should be started as soon as possible because it has a crucial role in neuronal preservation and even reverses the disease.

Indexed as

Brown–Vialetto–Van Laere syndromeMutationRiboflavinSensorineural hearing loss

Identifiers

PMID40787273
PMCPMC12330977

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