Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS): A Comprehensive Review of Clinical Manifestations, Diagnostic Strategies, and Therapeutic Insight

Cerebellar Ataxia with Neuropathy and Vestibular Areflexia Syndrome (CANVAS) is a rare neurodegenerative disorder characterized by a triad of cerebellar ataxia, sensory neuropathy, and bilateral vestibular areflexia. The recent discovery of biallelicintronicpentanucleotide repeat expansions in the RFC1 gene has enhanced understanding of its genetic basis. No curative pharmacological treatments exist; management focuses on symptomatic relief and supportive multidisciplinary care. This review summarizes clinical features, diagnostic strategies, and emerging therapeutic options. We also present a case of a 6-year-old male child who exhibited vomiting and tonic posturing. MRI revealed bilateral symmetrical white matter abnormalities and elevated neurochemical markers indicative of neurodegeneration. This case highlights the importance of considering CANVAS in pediatric patients with unexplained neurological symptoms. Emphasizing current management and the urgent need for pharmaceutical research, this review aims to enhance diagnosis and promote the development of disease-modifying treatments