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Presentation transcript:

Resident and Fellow Section Feeding dystonia Teaching NeuroImages Neurology Resident and Fellow Section © 2015 American Academy of Neurology

Vignette A 39-year old male was evaluated for personality change, involuntary movements and eating difficulties. Examination demonstrated feeding dystonia, dysarthria, limb dystonia and chorea (video e-1). Transaminases and creatine kinase levels were elevated. Additional investigation revealed acanthocytes on blood smear, myopathy and caudate nucleus atrophy (Figures 1, 2, e-3 and e-4). Paucar et al. © 2015 American Academy of Neurology

Video Paucar et al. © 2015 American Academy of Neurology

Figure 1: Around 10 % acanthocytes (arrows) on a blood smear. Imaging Figure 1: Around 10 % acanthocytes (arrows) on a blood smear. Figure 2: Gomori staining of left tibialis anterior muscle displaying variation in fiber size, central nuclei (thin arrows) and splitting (thicker arrow). These features are compatible with myopathy. Figure 1 Figure 2 Paucar et al. © 2015 American Academy of Neurology

Imaging Figure 3 Figure 4 Paucar et al. Figures 3 and 4: Coronal and axial views of T1 weighted MRI of the brain displaying marked atrophy of the caudate nucleus (arrows). Figure 3 Figure 4 Paucar et al. © 2015 American Academy of Neurology

Feeding dystonia in chorea-acanthocytosis Western blot revealed absent chorein and a genetic test found him to be compound heterozygote for novel VPS13A gene mutations (c.266dupT and deletion of exons 52, 53, 55 and 58), establishing a diagnosis of chorea-acanthocytosis. He was treated with botulinum toxin injections in genioglossus, which significantly improved eating and speaking. Schneider SA, Aggarwal A, Bhatt M, et al. Severe tongue protrusion dystonia: clinical syndromes and possible treatment. Neurology. 26 September 2006;67(6):940–3. Paucar et al. © 2015 American Academy of Neurology