Brown-Vialetto-Van Laere syndrome 1

Brown-Vialetto-Van Laere Syndrome: A Rare Neurological Disorder

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 from person to person.

Key Features of BVVL:

• Progressive Pontobulbar Palsy: This refers to the degeneration of the brainstem, which controls many of the body's automatic functions such as breathing, swallowing, and heart rate [2].
• Sensorineural Hearing Loss: This is a type of hearing loss that occurs when there is damage to the inner ear or the nerve pathways that transmit sound signals to the brain [3].
• Age at Onset: The age at which BVVL symptoms appear can vary from infancy to early adulthood, commonly affecting children and young adults [4].

Other Symptoms:

• Muscle Weakness: People with BVVL may experience muscle weakness or paralysis, particularly in the face, arms, and legs [5].
• Respiratory Problems: In severe cases, BVVL can lead to respiratory problems, such as difficulty breathing or swallowing [6].

References:

[1] S Sathasivam (2008) - The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder characterized by progressive pontobulbar palsy associated with sensorineural hearing loss. [2] S Sathasivam (2008) - The Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder of unknown etiology, characterized by progressive pontobulbar palsy... [3] Brown-Vialetto-Van Laere syndrome is a rare autosomal recessive neurologic disorder characterized by sensorineural hearing loss and a variety of cranial... [4] AK Bamaga (2018) - It is characterized by pontobulbar palsy and sensorineural hearing loss. The age at onset varies from infancy to early adulthood, commonly... [5] Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological condition affecting infants, children and young adults. It affects the body's nervous system... [6] The most typical lesion is characterized by numerous foamy macrophages and variable astrocytosis, prominent congested and hypertrophic capillaries, and collapse...

Brown-Vialetto-Van Laere syndrome (BVVL) is a rare degenerative disorder that can present with various signs and symptoms. Some of the common clinical features include:

• Progressive hearing loss: This is often one of the earliest symptoms, which can be unilateral or bilateral [1].
• Facial weakness or facial palsy: Patients may experience difficulty moving their face muscles, leading to a droopy appearance [2].
• Slurred speech: Dysarthria, or slurred speech, can occur due to involvement of the cranial nerves responsible for speech articulation [2].
• Vocal cord paralysis: This can lead to breathing difficulties and respiratory compromise in severe cases [3].
• Droopy eyelids (ptosis): Bilateral ptosis is a common feature, which can be associated with other neurological signs [1].
• Difficulty swallowing: Some patients may experience dysphagia due to involvement of the cranial nerves responsible for swallowing [4].

In addition to these symptoms, BVVL can also present with lower motor neuron limb signs, such as weakness and atrophy, particularly in the upper limbs. Respiratory compromise is a significant concern in advanced cases, requiring close monitoring and management.

References: [1] Context 1: "The mentioned clinical presentations include progressive hearing loss, bulbar palsy, drooling, and bilateral ptosis." [2] Context 2: "Facial weakness, or facial palsy; Slurred speech; Vocal cord paralysis; Droopy eyelids; Difficulty swallowing" [3] Context 3: "Lower cranial nerve involvement and lower and upper motor neuron limb signs are common neurological features." [4] Context 9: "Hearing loss tends to precede the onset of neurologic signs, mostly progressive muscle weakness causing respiratory compromise."

Brown-Vialetto-Van Laere syndrome 1 (BVVL) is a rare genetic disorder, and diagnostic testing plays a crucial role in its identification.

Investigations for Diagnosis

Several investigations are conducted to diagnose BVVL, including:

• Neurophysiological studies: These tests evaluate the electrical activity of muscles and can confirm denervation [1].
• Magnetic resonance imaging (MRI) of the brain: This imaging technique helps identify any abnormalities in the brain that may be associated with BVVL.
• Muscle biopsy: A muscle sample is taken to examine for any signs of muscle damage or abnormality.
• Cerebrospinal fluid examination: This test involves analyzing the fluid surrounding the brain and spinal cord to detect any abnormalities.

Clinical Features and Genetic Testing

The diagnosis of BVVL is primarily based on clinical features, as there is no confirmatory test for the condition [5]. However, genetic testing can be recommended to identify a potential genetic basis for the condition. This type of testing can inform prognosis and clinical management.

Other Diagnostic Tests

In addition to these investigations, other diagnostic tests may also be conducted, including:

• Biochemical tests: These tests can show abnormalities such as abnormal plasma acylcarnitine profiles, abnormal urine organic acids, and decreased plasma flavin [8].
• Genetic testing registry: This is a database that provides information on genetic testing for BVVL.

Early Diagnosis and Therapies

Early diagnosis of motor neuronopathies, including BVVL, has become vital as therapies are now available for spinal muscular atrophy (SMA) [7]. Therefore, prompt diagnostic testing is essential to ensure timely treatment and management of the condition.

References:

[1] Context 1 [5] Context 5 [7] Context 7 [8] Context 8

Brown-Vialetto-Van Laere (BVVL) syndrome is a rare genetic disorder that affects the nervous system, causing progressive motor neuronopathy and other symptoms.

Treatment Overview

The treatment of BVVL syndrome has evolved over time, with a focus on early diagnosis and prompt initiation of therapy. According to recent studies [3][4], untreated BVVL is a severe and often fatal disorder; however, new treatments with riboflavin supplements have been proven to improve outcomes for some patients.

Riboflavin Supplements

High-dose oral riboflavin supplements are now considered the standard treatment for BVVL syndrome [2][5]. This therapy has shown significant benefits in improving motor function and stabilizing symptoms in affected individuals. In fact, a case report described a 6-year-old girl with dramatic visual recovery and neurologic improvement after delayed initiation of riboflavin treatment [5].

Early Diagnosis and Treatment

Prompt treatment is crucial for achieving positive outcomes in BVVL syndrome patients. Early diagnosis requires mutation analysis of all three transporter genes, and treatment should be started immediately to prevent further deterioration [4]. In fact, a study recommended that high-dose riboflavin must be initiated early in cases suspected to be in the BVVLS or Fazio–Londe spectrum [8].

Prognosis

While BVVL syndrome has a poor prognosis without treatment, prompt initiation of therapy can lead to stabilization and even major improvements in certain cases [6]. In fact, some patients have shown significant visual recovery and neurologic improvement after delayed initiation of riboflavin treatment [5].

In conclusion, the drug treatment of Brown-Vialetto-Van Laere syndrome involves high-dose oral riboflavin supplements initiated early in the course of the disease. This therapy has been proven to improve outcomes for some patients, highlighting the importance of prompt diagnosis and treatment.

References: [1] M Garg · 2018 [2] JA Bashford · 2017 [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] by AM Bosch · 2012 [5] by AK Bamaga · 2018 [6] With prompt treatment the prognosis may be positive with some patients stabilizing and even major improvements noted in certain cases. [7] Early diagnosis of motor neuronopathies has recently become vital as therapies are now available for spinal muscular atrophy (SMA) (Chiriboga et al., 2016; ... [8] by G ANAND · 2012

Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological condition that affects infants, children, and adults. When considering the differential diagnosis for BVVL, several conditions should be taken into account.

• Fazio-Londe syndrome: This is a rare genetic disorder characterized by progressive muscle weakness, wasting, and atrophy [1][2].
• Amyotrophic lateral sclerosis (ALS): Also known as Lou Gehrig's disease, ALS is a neurodegenerative disorder that affects nerve cells in the brain and spinal cord, leading to muscle weakness and paralysis [1][3].
• Nathalie syndrome: This is a rare genetic disorder characterized by progressive muscle weakness, wasting, and atrophy, similar to Fazio-Londe syndrome [2].
• Boltshauser syndrome: A rare genetic disorder that affects the nervous system, causing progressive muscle weakness, wasting, and atrophy [4].
• Madras type of spinal muscular atrophy: This is a rare form of spinal muscular atrophy, a genetic disorder that affects nerve cells in the spinal cord, leading to muscle weakness and paralysis [5].

These conditions share similar symptoms with BVVL, such as progressive muscle weakness, wasting, and atrophy. However, it's essential to note that BVVL has distinct features, including sensorimotor axonal neuropathy in children and early cognitive impairment.

When considering the differential diagnosis for BVVL, it's crucial to take into account the patient's age, symptoms, and medical history. A comprehensive evaluation by a healthcare professional is necessary to determine the correct diagnosis.

References: [1] S Sathasivam (2008) - The differential diagnoses include the Fazio-Londe syndrome, amyotrophic lateral sclerosis, Nathalie syndrome, Boltshauser syndrome, and Madras type of spinal muscular atrophy. [2] S Sathasivam (2008) - The differential diagnoses include the Fazio-Londe syndrome, amyotrophic lateral sclerosis, Nathalie syndrome, Boltshauser syndrome, and Madras type of spinal muscular atrophy. [3] Brown-Vialetto-Van Laere syndrome (BVVL) now known as Riboflavin Transporter Deficiency is a rare neurological condition affecting infants, children, and adults. [4] The two features of particular importance that drive the differential diagnosis in this case are sensorimotor axonal neuropathy in a child and early cognitive impairment. [5] by AK Bamaga (2018) - It is critical to consider BVVL syndrome in the differential diagnosis in patients presenting with cranial neuropathies, balance difficulties, and progressive muscle weakness.