Brown-Vialetto-Van Laere syndrome

Classification

• type 1 (shown here)

Epidemiology

• rare

Pathology

• neurologic disorder

Genetics

• autosomal recessive
• associated with defects in SLC52A3 (riboflavin transporter 2) Cinical manifestations:
• develops over a relatively short period of time in a previously healthy individual
• sensorineural hearing loss
  • may precede the neurological signs
• cranial nerve palsies
  • lower cranial nerve (CN3 - CN6) palsies
• long tract signs
• lower motor neuron signs,
• cerebellar ataxia
• invariably progressive
• decline is variable within & between families. With

Complications

• diaphragmatic weakness
• respiratory insufficiency
• recurrent pneumonia
• respiratory failure

Differential diagnosis

• may resemble amyotrophic lateral sclerosis

More general terms

• genetic syndrome (multisystem disorder)
• genetic disease of the nervous system

Database

• OMIM: https://mirror.omim.org/entry/211530