Brown-Vialetto-Van Laere Syndrome

Brown-Vialetto-Van Laere syndrome (BVVL), also known as pontobulbar palsy with deafness, is a nervous system disorder that sometimes runs in families. Only 58 cases have been reported in the worldwide medical literature in the past 100 years. BVVL seems to affect more females than males.

Symptoms
The symptoms of Brown-Vialetto-Van Laere syndrome may begin in infancy or not until the third decade of life. Symptoms include:
sensorineural deafness (failure of the nerves responsible for hearing) that gets worse over time and becomes severe
limb weakness
difficulty breathing
slurred speech and difficulty swallowing
facial weakness
neck and shoulder weakness
Other symptoms may include eye problems, mental retardation, or seizures.
Diagnosis
The diagnosis of Brown-Vialetto-Van Laere syndrome is based on the symptoms. There is no special test to confirm the diagnosis. Some tests may be done to exclude other causes of the symptoms, or other similar disorders such as amyotrophic lateral sclerosis (ALS, or Lou Gehrig's disease). Since BVVL includes deafness, a hearing test (audiology exam) will be done.

Treatment
Treatment of Brown-Vialetto-Van Laere syndrome is based on symptoms such as difficulty breathing, speaking, or swallowing. Treatment with steroids and intravenous immunoglobulin has been tried in some cases, but not all individuals benefited from this treatment. Based on the 58 known cases, one-third of individuals with BVVL survive for 10 years or longer after diagnosis