Related Experiment Videos
[Case report Brown-Vialetto-Van laere syndrome]
S Introini1, G M Sasso, G Moioli
1Servizio di Anestesia Rianimazione e Terapia Intensiva, Ospedale Vallecamonica, Esine (Brescia), Italy.
Minerva Anestesiologica
|April 5, 2003
Summary
Brown-Vialetto-Van Laere syndrome (BVVL) is a rare progressive neurological disorder. This case highlights long-term mechanical ventilation dependence and discusses critical care for neuromuscular failure and locked-in states.
Area of Science:
- Neurology
- Genetics
- Rare Diseases
Background:
- Brown-Vialetto-Van Laere syndrome (BVVL) is a rare progressive neurological disorder characterized by bulbo-pontine palsy, sensorineural hearing loss, and respiratory failure.
- The syndrome's onset and progression can vary significantly, with some cases experiencing periods of quiescence followed by rapid deterioration.
Observation:
- A 36-year-old male presented with a 12-year history of BVVL, initially diagnosed at age 24.
- The patient experienced a quiescent period for 12 years before developing severe respiratory failure, leading to dependence on mechanical ventilation.
- Clinical manifestations included progressive bulbo-pontine palsy, bilateral central deafness, and profound neuromuscular weakness.
Findings:
- The case underscores the potential for delayed but severe respiratory compromise in BVVL.
- Management challenges include addressing neuromuscular failure and the 'locked-in' state, requiring intensive care and respiratory support.
- The long-term course emphasizes the need for vigilant monitoring and proactive respiratory management.
Implications:
- This case highlights the critical importance of intensive care and resuscitation strategies for patients with advanced BVVL.
- Understanding the long-term trajectory of BVVL is crucial for improving patient outcomes and quality of life.
- Further research into the pathogenesis and therapeutic interventions for BVVL is warranted to address the significant morbidity associated with this rare syndrome.