Cerebrotendinous xanthomatosis: Neuropathological findings

  title={Cerebrotendinous xanthomatosis: Neuropathological findings},
  author={B. Pilo de la Fuente and I. Ru{\'i}z and A. L{\'o}pez de Munain and A. Jim{\'e}nez-Escrig},
  journal={Journal of Neurology},
  • B. Pilo de la Fuente, I. Ruíz, +1 author A. Jiménez-Escrig
  • Published 2008
  • Medicine
  • Journal of Neurology
  • Cerebrotendinous xanthomatosis is an inherited autosomal recessive lipid storage disease caused by a 27-hydroxylase enzyme deficiency, characterised clinically by tendon xanthomas, premature cataracts, chronic diarrhoea and progressive neurologic dysfunction. The disease is very uncommon and there are very few pathological descriptions. We report a 52-year-old male who presented with a neuropsychiatric disorder and cognitive decline. Despite treatment the patient developed optic atrophy… CONTINUE READING
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