SCN2A- Associated Episodic and Persistent Ataxia with Cerebellar Atrophy: A Case Report

Area of Science:

• Genetics
• Neurology
• Pediatrics

Background:

• SCN2A gene encodes a sodium channel crucial for cerebellar function.
• SCN2A variants are associated with diverse neurological conditions, including episodic ataxia and epilepsy.
• The genotype-phenotype relationship in SCN2A-associated episodic ataxia requires further definition.

Observation:

• A 2-year-old boy presented with a prolonged 4-month episode of profound ataxia.
• The patient exhibited cerebellar atrophy and persistent mild ataxia with episodic exacerbations.
• Notably, the patient lacked early-onset epilepsy, distinguishing this case from typical presentations.

Findings:

• This case expands the phenotypic spectrum of SCN2A variants.
• The findings highlight SCN2A as a potential cause of early-onset persistent ataxia, even without seizures.
• Cerebellar atrophy was a significant observation in this patient.

Implications:

• SCN2A should be considered in the differential diagnosis of early-onset pediatric ataxia.
• Targeted genetic testing or Whole Exome Sequencing (WES) is recommended for children with new-onset persistent or episodic ataxia.
• This case underscores the importance of comprehensive genetic evaluation for complex neurological presentations.