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Brown-Vialetto-Van Laere syndrome
ICD-10 Codes
Related ICD-10:
Description
Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural hearing loss [1]. It is a condition that affects the body's nervous system, and its symptoms can vary in severity and age of onset.
Key Features:
- Sensorineural Hearing Loss: One of the primary symptoms of BVVL is a progressive loss of hearing, which can range from mild to severe [3].
- Pontobulbar Palsy: This condition affects the nerves that control swallowing, leading to difficulties with eating and speaking [4].
- Cranial Nerve Involvement: BVVL can also affect other cranial nerves, leading to symptoms such as facial weakness, tongue paralysis, and respiratory problems [5].
Age of Onset:
The age at which BVVL symptoms appear can vary greatly, ranging from infancy to early adulthood, with the majority of cases occurring in childhood or adolescence [3].
Other Symptoms:
In addition to hearing loss and pontobulbar palsy, individuals with BVVL may experience other symptoms such as:
- Weakness or paralysis of facial muscles
- Difficulty swallowing (dysphagia)
- Respiratory problems
- Muscle weakness or wasting
It's essential to note that the severity and progression of BVVL can vary significantly from person to person.
References: [1] S Sathasivam · 2008 · Cited by 87 — [3] AK Bamaga · 2018 · Cited by 16 — [4] Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial nerve ... [5] BVVLS is a rare neurological disorder characterized by a progressive loss of hearing and lower or upper motor neuron degeneration.
Additional Characteristics
- Respiratory problems
- Difficulty swallowing (dysphagia)
- Sensorineural Hearing Loss
- Pontobulbar Palsy
- Cranial Nerve Involvement (facial weakness, tongue paralysis, respiratory problems)
- Weakness or paralysis of facial muscles
- Muscle weakness or wasting
Signs and Symptoms
Brown-Vialetto-Van Laere (BVVLS) syndrome is a rare neurodegenerative disorder characterized by a progressive loss of hearing, lower or upper motor neuron degeneration, and other symptoms. The signs and symptoms of BVVLS can vary from person to person but often include:
- Sensorineural deafness: A progressive and severe loss of hearing, usually occurring first in children or young adults [1][4]
- Facial weakness or facial palsy: Weakness or paralysis of the facial muscles, which can affect speech and eating [2]
- Slurred speech: Difficulty speaking due to facial weakness or vocal cord paralysis [2]
- Vocal cord paralysis: Paralysis of the vocal cords, leading to changes in voice quality [2]
- Droopy eyelids: Ptosis, or drooping eyelids, which can affect vision and eye movement [2]
- Difficulty swallowing: Dysphagia, or difficulty swallowing food and liquids, due to bulbar palsy [1][7]
- Respiratory failure: Progressive weakness of the respiratory muscles, leading to breathing difficulties [1][7]
- Optic atrophy: Atrophy of the optic nerve, which can affect vision [8]
- Disproportionate upper extremity weakness: Weakness in the arms and hands, which can be more pronounced than other symptoms [8]
It's essential to note that BVVLS is a rare disorder, and not everyone will experience all of these symptoms. The severity and progression of symptoms can vary significantly from person to person.
References: [1] by S IMANNEZHAD · 2024 · Cited by 1 [2] What are the symptoms of Brown-Vialetto-Van Laere syndrome? [3] by S Sathasivam · 2008 · Cited by 87 [4] BVVLS is a rare neurological disorder characterized by a progressive loss of hearing and lower or upper motor neuron degeneration. [5] Jan 1, 2016 [6] Symptoms and signs. edit. BVVL is marked by a number of cranial nerve palsies ... [7] by AM Bosch · 2012 · Cited by 150 [8] by AK Bamaga · 2018 · Cited by 16
Additional Symptoms
- Optic atrophy
- Difficulty swallowing
- Droopy eyelids
- Disproportionate upper extremity weakness
- deafness
- facial weakness
- slurred speech
- paralysis
- respiratory failure
Diagnostic Tests
Brown-Vialetto-Van Laere (BVVL) syndrome is a rare neurological disorder characterized by a progressive loss of hearing and lower or upper motor neuron degeneration [9]. Diagnostic tests for BVVL are crucial in confirming the diagnosis, as there is no confirmatory test for the condition [5].
The following diagnostic tests can be used to investigate BVVL:
- Investigations (neurophysiological studies, magnetic resonance imaging of the brain, muscle biopsy, cerebrospinal fluid examination) are done to assess the extent of nerve damage and other related symptoms [1].
- Electromyography (EMG): this test evaluates and records the electrical activity produced by the muscles cells, when activated. It can confirm the denervation of muscles, which is a hallmark of BVVL [2].
- Biochemical tests can show abnormalities such as abnormal plasma acylcarnitine profiles, abnormal urine organic acids and decreased plasma flavin levels [7].
In addition to these tests, genetic testing may also be considered to identify any genetic mutations that could be contributing to the condition. Exome sequencing with CNV detection is a test method that can be used for this purpose [3]. This test can help identify any genetic abnormalities that may be causing the symptoms of BVVL.
It's worth noting that the diagnosis of BVVL is primarily based on clinical description, and there is no specific diagnostic test for the condition. A combination of these tests, along with a thorough medical history and physical examination, can help confirm the diagnosis of BVVL [5].
References: [1] Investigations (neurophysiological studies, magnetic resonance imaging of the brain, muscle biopsy, cerebrospinal fluid examination) are done to assess the extent of nerve damage and other related symptoms. [2] Electromyography (EMG): this test evaluates and records the electrical activity produced by the muscles cells, when activated. It can confirm the denervation of muscles, which is a hallmark of BVVL. [3] Test Method: Exome Sequencing with CNV Detection. New York State Approved Test. PANEL AVAILABLE VIA PGnome Sequencing. [5] by S Sathasivam · 2008 · Cited by 87 — Diagnosis. The diagnosis of BVVL is based on the clinical description of the syndrome, as there is no confirmatory test for the condition. [7] Biochemical tests can show abnormalities such as abnormal (MADD-like) plasma acylcarnitine profiles, abnormal urine organic acids and decreased plasma flavin levels.
Additional Diagnostic Tests
- Biochemical tests
- Electromyography (EMG)
- Investigations (neurophysiological studies, magnetic resonance imaging of the brain, muscle biopsy, cerebrospinal fluid examination)
- Exome sequencing with CNV detection
Treatment
Brown-Vialetto-Van Laere (BVVL) syndrome is a rare and severe disorder that affects the nervous system, leading to progressive weakness and paralysis of the limbs, as well as hearing loss. Fortunately, recent studies have shown promising results with riboflavin supplementation as a treatment for this condition.
Treatment Options
According to various case reports and studies [3][5][6], high doses of riboflavin 5 phosphate can halt the progression of BVVL syndrome in some patients. In fact, one study reported that a patient who was previously unable to walk unaided was able to do so after treatment with riboflavin [1]. Another study found that striking clinical improvement was seen in patients following oral or intravenous riboflavin supplementation [7].
Riboflavin Supplementation
The use of riboflavin supplements has been shown to be effective in improving outcomes for patients with BVVL syndrome. In one case report, a patient who had been diagnosed with BVVL syndrome showed significant improvement after treatment with high doses of riboflavin 5 phosphate [4]. Similarly, another study found that riboflavin supplementation led to improved clinical outcomes in patients confirmed to have BVVL/FL syndrome [6].
Importance of Early Treatment
It's worth noting that untreated BVVL is a severe and often fatal disorder. However, with the advent of new treatments like riboflavin supplements, there is hope for improved outcomes for some patients. In fact, one study noted that treatment with high doses of riboflavin 5 phosphate can be life-saving in some cases [8].
References
- [1] Anand G et al. (2012) - Case report supporting the use of riboflavin as a treatment for BVVL syndrome.
- [3] Bashford JA et al. (2017) - Report on the remarkable motor recovery after riboflavin therapy in a patient with BVVL syndrome.
- [4] Anand G et al. (2012) - Case report showing significant improvement after treatment with high doses of riboflavin 5 phosphate.
- [5] Bamaga AK et al. (2018) - Study on the use of riboflavin supplementation in patients confirmed to have BVVL/FL syndrome.
- [6] Bosch AM et al. (2012) - Report on the life-saving effects of riboflavin supplementation in patients with BVVL/FL syndrome.
- [7] Bamaga AK et al. (2018) - Study showing striking clinical improvement after oral or intravenous riboflavin supplementation.
- [8] Bosch AM et al. (2012) - Report on the use of riboflavin supplements as a life-saving treatment for BVVL/FL syndrome.
Recommended Medications
- Riboflavin 5 phosphate
- riboflavin
- Riboflavin
💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.
Differential Diagnosis
Brown-Vialetto-Van Laere (BVVL) syndrome is a rare degenerative disorder, and its differential diagnosis includes several conditions that can present with similar symptoms.
According to the medical literature [7], the differential diagnoses for BVVL syndrome include:
- Fazio-Londe syndrome
- Amyotrophic lateral sclerosis (ALS)
- Nathalie syndrome
- Boltshauser syndrome
- Madras motor neuron disease
These conditions can all present with sensorimotor axonal neuropathy in a child and early cognitive decline, making them important considerations in the differential diagnosis of BVVL syndrome [5].
In addition to these conditions, other neuromuscular diseases such as congenital or mitochondrial myopathies and rapidly progressive neuropathies should also be considered in the differential diagnosis [10].
It's worth noting that DNA testing is a key method for confirming the diagnosis of BVVL syndrome, looking for specific genetic mutations associated with the condition [4].
Additional Differential Diagnoses
- Fazio-Londe syndrome
- Congenital or mitochondrial myopathies
- Rapidly progressive neuropathies
- N syndrome
- amyotrophic lateral sclerosis
- motor neuron disease
Additional Information
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- A syndrome that is characterized by sensorineural hearing loss and a variety of cranial nerve palsies, usually involving the motor components of the seventh and ninth to twelfth cranial nerves.
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