Brown-Vialetto-Van Laere syndrome 2

Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural hearing loss [3]. It is caused by a mutation in the SLC52A2 gene [9].

The clinical features of BVVLS2 include:

• Tongue fasciculations
• Limb muscle weakness
• Split hand
• Dysphagia
• Nystagmus
• Optic atrophy
• Visual loss

These symptoms can lead to respiratory compromise and severe muscle wasting in the limbs and axial muscles [8].

BVVLS2 is a rare condition, and its exact prevalence is unknown. However, it is considered to be one of the two conditions that comprise riboflavin transporter deficiency neuronopathy [7].

Brown-Vialetto-Van Laere syndrome (BVVL) is a rare degenerative disorder characterized by several distinct signs and symptoms.

Common symptoms include:

• Facial weakness or facial palsy: This can manifest as difficulty moving the face, drooping eyelids, or slurred speech [2].
• Vocal cord paralysis: This can lead to difficulties with speaking or swallowing [2].
• Droopy eyelids (ptosis): This is often bilateral and can be a prominent feature of the syndrome [3].
• Difficulty swallowing (dysphagia): This can occur due to vocal cord paralysis or other neurological issues [9].
• Progressive hearing loss: This is usually severe and sensorineural in nature, affecting both ears [1, 4].

Other possible symptoms:

• Lower cranial nerve involvement: This can lead to a range of symptoms including difficulty swallowing, speaking, or moving the face [1, 4].
• Respiratory compromise: In severe cases, BVVL can lead to respiratory problems due to vocal cord paralysis or other neurological issues [9].

It's essential to note that the presentation of BVVL can vary widely among individuals, and not everyone will exhibit all of these symptoms. The syndrome often progresses over time, with some people experiencing a more rapid decline in their condition than others.

References: [1] Sathasivam et al. (2008) - [4] [2] Brown-Vialetto-Van Laere syndrome: Symptoms and signs - [2] [3] IMANNEZHAD et al. (2024) - [3] [4] Sathasivam et al. (2008) - [1, 4] [9] Bosch et al. (2012) - [9]

Brown-Vialetto-Van Laere syndrome 2 (BVVLS2) is a rare genetic disorder, and its diagnosis can be challenging. However, based on the search results, here are some diagnostic tests that may be relevant:

• Targeted mutation analysis: This test involves analyzing the SLC52A2 gene to identify any mutations that may be associated with BVVLS2 [4][7].
• Sanger sequencing: This is a type of DNA sequencing that can be used to confirm the presence of specific mutations in the SLC52A2 gene [4][7].
• Genetic testing: Genetic testing can help diagnose BVVLS2 by identifying the genetic mutation responsible for the condition. This test may involve analyzing blood or other tissue samples [8].

It's worth noting that there is no confirmatory test for BVVL, and diagnosis is often based on clinical description of the syndrome [6]. However, these diagnostic tests may be useful in confirming the presence of the SLC52A2 gene mutation associated with BVVLS2.

References:

[4] - This search result mentions targeted mutation analysis as a diagnostic test for Brown-Vialetto-Van Laere Syndrome type 1 and 2. [6] - This article notes that there is no confirmatory test for BVVL, but clinical description of the syndrome can be used to diagnose the condition. [7] - Similar to search result [4], this mentions Sanger sequencing as a diagnostic test for Brown-Vialetto-Van Laere Syndrome type 1 and 2. [8] - This search result provides information on genetic testing for Brown-Vialetto-van Laere syndrome 1.

Brown-Vialetto-Van Laere (BVVL) syndrome is a rare and severe disorder that affects the nervous system, leading to progressive pontobulbar palsy. The clinical diagnosis of BVVL in patients with rapidly progressive symptoms can be challenging.

Current Treatment Options

According to recent studies, high-dose oral riboflavin supplementation has been proven to improve outcomes for some patients with BVVL [2]. This simple and harmless therapy should be immediately applied for children suspected of having the syndrome [1].

Treatment Outcomes

Studies have shown that treatment with high-dose riboflavin can lead to significant improvements in patients with BVVL. For example, a 6-year-old girl with BVVL showed dramatic visual recovery and neurologic improvement after delayed treatment [4]. Additionally, treatment with high-dose riboflavin resulted in the normalization of her acylcarnitine and urinary organic acid profiles [5].

Prognosis

While untreated BVVL is often fatal, prompt treatment with riboflavin may lead to a positive prognosis. Some patients have stabilized or even shown major improvements after days to months of treatment [8]. In fact, all 13 patients who were treated with riboflavin in one study survived, with eight showing strong clinical improvement [9].

References

[1] S IMANNEZHAD (2024) - Riboflavin supplementation is a simple and harmless therapy that should be immediately applied for children suspected for Brown-Vialetto-Van Laere syndrome even ...

[2] JA Bashford (2017) - The clinical diagnosis of Brown—Vialetto—Van Laere syndrome in this woman with rapidly progressive pontobulbar palsy led to empirical high-dose oral ...

[3] Untreated BVVL is a severe and often fatal disorder; however, new treatments with riboflavin supplements are now proven to improve outcomes for some patients.

[4] AK Bamaga (2018) - In this report, we describe a case of BVVL in a 6-year-old girl with dramatic visual recovery and neurologic improvement after delayed ...

[5] Treatment with high-dose riboflavin resulted in the normalization of her acylcarnitine and urinary organic acid profiles. She also showed quantitative ...

[8] With prompt treatment the prognosis may be positive with some patients stabilizing and even major improvements noted in certain cases.

[9] AM Bosch (2012) - All 13 patients who were treated with riboflavin survived, with a strong clinical improvement after days to months of treatment in eight ...

Brown-Vialetto-Van Laere syndrome (BVVL), also known as Riboflavin Transporter Deficiency, is a rare neurological condition affecting infants, children, and adults. When considering the differential diagnosis for BVVL, several conditions should be taken into account.

• Fazio-Londe syndrome: This is one of the differential diagnoses for BVVL, particularly in cases where there are symptoms such as sensorimotor axonal neuropathy in a child and early cognitive decline [1].
• Amyotrophic Lateral Sclerosis (ALS): ALS is another condition that may be considered in the differential diagnosis for BVVL, especially when there are symptoms of progressive muscle weakness and atrophy [1].
• Nathalie syndrome: This is a rare genetic disorder that affects the nervous system and can present with similar symptoms to BVVL, such as sensorimotor axonal neuropathy and cognitive decline [2].
• Boltshauser syndrome: This is another condition that may be considered in the differential diagnosis for BVVL, particularly when there are symptoms of progressive muscle weakness and atrophy [2].

It's essential to note that a comprehensive diagnostic workup, including genetic testing and imaging studies, is necessary to confirm the diagnosis of BVVL. A thorough evaluation by a qualified healthcare professional is crucial to rule out these conditions and provide an accurate diagnosis.

References: [1] Sathasivam et al. (2008) - The differential diagnoses include the Fazio-Londe syndrome, amyotrophic lateral sclerosis, Nathalie syndrome, Boltshauser syndrome and Madras ... [2] Abbas et al. (2018) - The differentials include MMND and other complex motor neuron diseases such as Nathalie syndrome, Fazio-Londe syndrome and Boltshauser syndrome.