A 9 year old boy with slowly progressive spastic ataxic syndrome

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A 9 year old boy with slowly progressive spastic ataxic syndrome Teaching NeuroImages Neurology Resident and Fellow Section © 2016 American Academy of Neurology

Vignette A nine-year old boy presented with a slowly progressive spastic ataxic syndrome. Sensorimotor polyneuropathy was detected on nerve conduction studies. Biswas, et al © 2016 American Academy of Neurology

Imaging Biswas, et al Figure 1: A and B- Axial T2 and FLAIR 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 (block arrow), superior vermian atrophy (arrow), and thinning of the splenium of corpus callosum (dash arrow) D- Axial T2 weighted image shows a rim of hyperintensity around the thalami (arrows) Biswas, et al © 2016 American Academy of Neurology

Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS): Typical MRI findings MRI was highly suggestive of Autosomal Recessive Spastic Ataxia of Charlevoix Saguenay (ARSACS). ARSACS is a neurodegenerative disorder characterised clinically by progressive cerebellar signs, spasticity and peripheral neuropathy.1 Although 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 literature.1 Long TR 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. 1. Baets J, Deconinck T, Smets K, et al. Mutations in SACS cause atypical and late-onset forms of ARSACS. Neurology 2010;75(13):1181–1188. 2. Duquette A, Brais B, Bouchard J-P, Mathieu J. Clinical presentation and early evolution of spastic ataxia of Charlevoix-Saguenay. Mov. Disord. Off. J. Mov. Disord. Soc. 2013;28(14):2011–2014. Biswas, et al © 2016 American Academy of Neurology