Related Experiment Videos
Infantile progressive bulbar palsy with deafness.
Konstantinos A Voudris1, Angeliki Skardoutsou, Eleni A Vagiakou
1Second Department of Paediatrics-University of Athens, P & A Kyriakou Children's Hospital, Thivon & Levadeias Street, 115 27, Athens, Greece. kvoudris@otenet.gr
Brain & Development
|November 13, 2002
Summary
This case report details a 12-month-old boy with progressive bulbar palsy and hearing loss, diagnosed as Brown-Vialetto-Van Laere syndrome. Early auditory assessments are crucial for timely diagnosis in infants with similar symptoms.
Area of Science:
- Neurology
- Genetics
- Pediatrics
Background:
- Progressive bulbar palsy (PBP) and Fazio-Londe (FL) disease are rare neuromuscular disorders affecting cranial nerves.
- Brown-Vialetto-Van Laere (BVVL) syndrome is a rare, often fatal, neurodegenerative disorder characterized by progressive bulbar symptoms and sensorineural hearing loss.
Observation:
- A 12-month-old boy presented with progressive cranial nerve palsies, ventilatory failure, and generalized muscle weakness.
- Initially normal development and hearing were noted, but hearing loss was documented by brainstem auditory evoked potentials (BAEP) six months after symptom onset.
- The patient experienced rapid deterioration, leading to death at 21 months of age.
Findings:
- The clinical presentation initially suggested PBP or FL disease.
- The subsequent development of hearing loss indicated a diagnosis of BVVL syndrome.
- This represents the youngest reported case of BVVL syndrome with severe, rapidly progressing clinical features.
Implications:
- This case highlights the critical importance of serial auditory examinations, including BAEP, in infants and children diagnosed with progressive bulbar palsy.
- Early identification of hearing loss is vital for accurate diagnosis and management of BVVL syndrome.
- Further research into the genetic and molecular underpinnings of BVVL syndrome is warranted to develop targeted therapies.