A child in Sub-Saharan Africa surrounded by DNA and riboflavin molecules.

Unlocking the Mystery of BVVL: A Ray of Hope for Sub-Saharan Africa

Rhea Morgan in Health & Wellness August 2025 • 4 min read.

"Early diagnosis and vitamin supplementation offer a chance at improved outcomes for this rare genetic disorder."

Acquired vocal cord and diaphragmatic paralysis in children presents a diagnostic puzzle, with causes ranging from central nervous system disorders to neuromuscular and local issues. Among the rare genetic conditions that can cause these paralyses, Brown-Vialetto-Van Laere syndrome (BVVL) stands out. BVVL is characterized by auditory neuropathy, bulbar palsy, stridor, muscle weakness, and respiratory compromise.

This article sheds light on the first documented case of BVVL in Sub-Saharan Africa, emphasizing the critical role of early diagnosis and intervention in managing this rare condition. By translating complex research into understandable insights, we aim to empower readers with knowledge and hope.

It addresses the reader's interest in understanding rare genetic conditions, seeking potential solutions, and combining core concepts with real-world applications.

What is Brown-Vialetto-Van Laere Syndrome (BVVL)?

A child in Sub-Saharan Africa surrounded by DNA and riboflavin molecules.

Brown-Vialetto-Van Laere syndrome (BVVL) is a rare genetic disorder caused by mutations in the riboflavin transporter genes (SLC52A2 and SLC52A3). These genes are essential for transporting riboflavin (vitamin B2) into cells, which is crucial for various metabolic processes. BVVL typically manifests with a combination of neurological symptoms, including auditory neuropathy, bulbar palsy, muscle weakness, and respiratory compromise.

The syndrome's progressive nature and the range of symptoms it presents make early diagnosis challenging. However, recognizing the signs and understanding the genetic basis of BVVL are vital for timely intervention and improved outcomes.

Auditory neuropathy (hearing loss)
Bulbar palsy (difficulty with speech and swallowing)
Stridor (noisy breathing)
Muscle weakness
Respiratory compromise (diaphragmatic and vocal cord paralysis)

In 2010, the genetic link between mutations in the riboflavin transport genes (SLC52A2 and SLC52A3) and BVVL was established. This breakthrough allowed for more accurate diagnoses and opened the door for targeted treatments.

Hope and the Horizon: The Importance of Early Intervention

This first documented case of BVVL in Sub-Saharan Africa underscores the importance of early diagnosis and intervention. Although diagnostic tests, including genetic analysis, may not always be readily available, recognizing the clinical signs and symptoms is crucial. Riboflavin supplementation is a potentially remedial treatment.

The case highlights that the erythrocyte glutathione reductase activity coefficient (EGRAC) test can indicate riboflavin deficiency and guide supplementation. Though riboflavin level testing isn't always accessible, EGRAC can offer a valuable indication.

BVVL management requires a multidisciplinary team of neurologists, pulmonologists, surgeons, and therapists. Early intervention with riboflavin, combined with comprehensive care, offers the best chance for improved outcomes and a better quality of life for those affected by this rare genetic condition.

About this Article -

This article was crafted using a human-AI hybrid and collaborative approach. AI assisted our team with initial drafting, research insights, identifying key questions, and image generation. Our human editors guided topic selection, defined the angle, structured the content, ensured factual accuracy and relevance, refined the tone, and conducted thorough editing to deliver helpful, high-quality information.See our About page for more information.

This article is based on research published under:

DOI-LINK: 10.1016/j.spen.2017.03.002, Alternate LINK

Title: The First Case Of Riboflavin Transporter Deficiency In Sub-Saharan Africa

Subject: Neurology (clinical)

Journal: Seminars in Pediatric Neurology

Publisher: Elsevier BV

Authors: Shaakira Chaya, Marco Zampoli, Diane Gray, Jane Booth, Gillian Riordan, Alvin Ndondo, Karen Fieggen, Jody Rusch, George Van Der Watt, Komala Pillay, Francois Van Der Westhuizen, Manoj Menezes, Jo Wilmshurst

Published: 2018-07-01

Everything You Need To Know

What exactly is Brown-Vialetto-Van Laere syndrome (BVVL)?

Brown-Vialetto-Van Laere syndrome (BVVL) is a rare genetic disorder resulting from mutations in the riboflavin transporter genes, specifically SLC52A2 and SLC52A3. These genes are critical because they manage the transport of riboflavin, also known as vitamin B2, into cells. BVVL is characterized by a combination of neurological symptoms, including auditory neuropathy, bulbar palsy, muscle weakness, and respiratory compromise. These symptoms make early diagnosis challenging, but understanding the genetic basis is vital for timely intervention.

What are the main symptoms someone might experience with Brown-Vialetto-Van Laere syndrome (BVVL)?

The main symptoms of Brown-Vialetto-Van Laere syndrome (BVVL) include auditory neuropathy, which leads to hearing loss; bulbar palsy, causing difficulties with speech and swallowing; stridor, indicated by noisy breathing; muscle weakness; and respiratory compromise, involving diaphragmatic and vocal cord paralysis. The presence and severity of these symptoms can vary among individuals, but their collective manifestation is indicative of BVVL.

Why is it so important to diagnose Brown-Vialetto-Van Laere syndrome (BVVL) early?

Early diagnosis of Brown-Vialetto-Van Laere syndrome (BVVL) is crucial because riboflavin supplementation can be a potentially remedial treatment. Recognizing the clinical signs and symptoms early allows for timely intervention, which can significantly improve outcomes for affected individuals. While genetic analysis may not always be immediately accessible, clinical awareness of BVVL is essential.

How did discovering the link between riboflavin transport genes and Brown-Vialetto-Van Laere syndrome (BVVL) change things?

The discovery that mutations in the riboflavin transport genes (SLC52A2 and SLC52A3) are linked to Brown-Vialetto-Van Laere syndrome (BVVL) was a major breakthrough because it allowed for more accurate diagnoses of the condition. It also opened the door for targeted treatments, such as riboflavin supplementation, which can help manage the symptoms and potentially improve the quality of life for individuals with BVVL. This genetic link provides a clearer understanding of the underlying cause of the syndrome.

What are the next steps in understanding and treating Brown-Vialetto-Van Laere syndrome (BVVL), especially in places like Sub-Saharan Africa?

While the case highlights a significant step in understanding Brown-Vialetto-Van Laere syndrome (BVVL) in Sub-Saharan Africa, further research is needed to explore the prevalence, specific genetic variations, and optimal treatment strategies for BVVL in this region. Additionally, improved access to diagnostic tools, including genetic testing, is essential for early detection and intervention. Long-term follow-up studies are also necessary to assess the effectiveness of riboflavin supplementation and other potential therapies.