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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
PubMed

Insights

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.

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