Tracing the roots of paralysis: A Brown-Vialetto-Van Laere syndrome case report

Abstract

Brown-Vialetto-Van Laere Syndrome (BVVLS) is a rare, inherited neurological disorder characterized by cranial nerve dysfunction, progressive neuropathy, and sensorineural hearing loss. Mutations in riboflavin transporter genes, such as SLC52A2 result in impaired riboflavin metabolism, leading to neurodegeneration. We present a case of a 16-year-old male with progressive sensorineural hearing loss, visual impairment, tongue atrophy, and distal muscle weakness of the hands and feet. This case highlights that if a patient presents with multiple cranial nerve involvement accompanied by small muscle atrophy, we should consider the possibility of this rare metabolic disease. Early recognition of BVVLS is crucial, as high-dose riboflavin supplementation (10– 40 mg/kg/day) can halt or even reverse disease progression. Differentiation from conditions like Madras motor neuron disease is essential for accurate diagnosis and management. This case emphasizes the potential for favourable outcomes with timely intervention.