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

2. 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

3. Video
Paucar et al.
© 2015 American Academy of Neurology

4. 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 Figure 2
Paucar et al.
© 2015 American Academy of Neurology

5. 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 Figure 4
Paucar et al.
© 2015 American Academy of Neurology

6. 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