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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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