[A case of cerebrotendinous xanthomatosis with convulsive seizures].

  title={[A case of cerebrotendinous xanthomatosis with convulsive seizures].},
  author={K Matsumuro and Keiichi Takahashi and Hideyuki Matsumoto and Y Okatsu and Masaru Kuriyama},
  journal={Rinsho shinkeigaku = Clinical neurology},
  volume={30 2},
A 35 year-old male was admitted to our hospital because of convulsive seizures. His parents are first cousins. No other members of his family have similar symptoms. He showed mental retardation since childhood. At age 14, he had generalized convulsive seizures that were intractable. Bilateral cataracts were found and extracted at age 18. He noticed bilateral swellings at Achilles tendons at around 25 years of age. Physical examination revealed bilateral swellings of Achilles tendons… CONTINUE READING