A 9-year-old boy presented with a slowly progressive spastic ataxic syndrome. Sensorimotor polyneuropathy was detected on nerve conduction studies. MRI (figure) was highly suggestive of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS).
(A, B) Axial T2 and fluid-attenuated inversion recovery images show an enlarged pons with linear hypointense striations on either side of the midline (arrows). (C) Sagittal T1-weighted image shows the enlarged pons (large arrow), superior vermian atrophy (arrow), and thinning of the splenium of corpus callosum (dashed arrow). (D) Axial T2-weighted image shows a rim of hyperintensity around the thalami (arrows).
ARSACS is a neurodegenerative disorder characterized by progressive cerebellar signs, spasticity, and peripheral neuropathy.1 Although the majority of cases have an early age at onset (3.4 ± 1.55 years),2 considerable variability of age at onset (infancy to >40 years) has also been described in the literature.1 Long repetition time linear pontine hypointense striations (pathophysiology of which is unknown) and superior vermian atrophy are characteristic imaging findings.1,2 Other useful imaging features include T2 hyperintense rim around the thalami and thinning of the cervical spinal cord.
Author contributions
Asthik Biswas: concept, image interpretation, writeup of manuscript. Mugil Varman: image interpretation and preparation. Sangeetha Yoganathan: clinical input, critical revision for intellectual content. Patel Khushboo Subhash: clinical input. Sunithi Mani: critical revision for intellectual content.
Study funding
No targeted funding reported.
Disclosure
The authors report no disclosures relevant to the manuscript. Go to Neurology.org/N for full disclosures.
Footnotes
Go to Neurology.org/N for full disclosures. Funding information and disclosures deemed relevant by the authors, if any, are provided at the end of the article.
Teaching slides: links.lww.com/WNL/A304
- © 2018 American Academy of Neurology
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