TY - JOUR T1 - Cerebrotendinous xanthomatosis JF - Journal of Neurology, Neurosurgery & Psychiatry JO - J Neurol Neurosurg Psychiatry SP - 1335 LP - 1335 DO - 10.1136/jnnp.74.9.1335 VL - 74 IS - 9 AU - G Castelnovo AU - L Jomir AU - S Bouly Y1 - 2003/09/01 UR - http://jnnp.bmj.com/content/74/9/1335.abstract N2 - 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 … ER -