Case 293: Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay

History A 6-year-old male child, born at full term via vaginal delivery, presented with a history of ataxia and delayed motor development. There was no family history of neurodegenerative disease. On examination, there was slight dysarthria, dysmetria on a finger-to-nose test, slowing of fast repetitive movements, and increased deep tendon reflexes and clonus in the lower limbs. Electromyography revealed axonal neuropathy, which was predominantly sensory. On arrival at our institution, unenhanced MRI of the brain was performed, and selected images are presented.