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Cerebrotendinous xanthomatosis
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  1. G Castelnovo,
  2. L Jomir,
  3. S Bouly
  1. Department of Neurology, Caremeau Hospital, CHU Nimes, France
  1. For correspondence:
 G Castelnova, Department of Neurology, Caremeau Hospital, CHU Nimes, France; 
 giovanni.castelnova{at}chu_nimes.fr

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A 37 year old patient was admitted for a generalised seizure. He was treated with valproic acid for partial epilepsy. Neurological examination revealed a cerebellar and pyramidal syndrome, moderate mental retardation, and enlargement of Achilles tendons xanthomas (figs 1 and 2).

MRI showed capsular, putaminal, and symmetrical cerebellar hyper intense signal on T2 images and Tc labelled hexamethylpropyleneamine oxime (HMPAO) SPECT illustrated temporal hypoperfusion. EEG …

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