Brown-Vialetto-Van Laere syndrome
1The Walton Centre for Neurology and Neurosurgery, Liverpool, UK. sivakumar.sathasivam@thewaltoncentre.nhs.uk
Orphanet Journal of Rare Diseases
|April 18, 2008
Summary
Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder causing progressive pontobulbar palsy and deafness. Management focuses on supportive care, as treatments offer only temporary stabilization for this rare condition.
Area of Science:
- Neurology
- Rare Diseases
- Genetics
Background:
- Brown-Vialetto-Van Laere syndrome (BVVL) is a rare neurological disorder.
- Characterized by progressive pontobulbar palsy and sensorineural deafness.
- Over 100 years, only 58 cases have been reported, with a 3:1 female to male ratio.
Purpose of the Study:
- To summarize the clinical presentation, diagnosis, and management of BVVL.
- To highlight the variability in disease course and prognosis.
- To underscore the challenges in understanding the etiopathogenesis of BVVL.
Main Methods:
- Review of reported cases.
- Clinical presentation analysis.
- Diagnostic investigation summary.
- Treatment and management strategies.
Main Results:
- BVVL presents with progressive sensorineural deafness and lower cranial nerve involvement.
- Respiratory compromise is a frequent non-neurological finding.
- Autosomal recessive inheritance is suggested in familial cases; sporadic cases also occur.
- Clinical course is variable, with one-third of patients surviving 10+ years.
Conclusions:
- BVVL diagnosis relies on clinical presentation, supported by investigations.
- Management is primarily supportive, focusing on assisted ventilation and nutrition.
- Etiopathogenesis remains elusive, necessitating further research.
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