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Cerebrotendinous xanthomatosis: Neuropathological findings

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Abstract

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, parkinsonism and dementia and died. The autopsy revealed a nonspecific brain and cerebellar atrophy.Under microscopic examination, lipid crystal clefts, neuronal loss, demyelination, reactive astrocytosis and perivascular macrophages were found. These findings suggest the limited reversibility of the disease, and its poor prognosis, specially if treatment is not started early.

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Authors and Affiliations

  1. Division of Neurology, Virgen del Puerto Hospital, Paraje de Valcorchero s/n Plasencia, 10600, Céceres, Spain

    B. Pilo de la Fuente

  2. Pathology Department, Hospital San Sebastian, Paseo Doctor Beguiristain 109, 20014, San Sebastian, Spain

    I. Ruiz

  3. Neurology Department, Hospital San Sebastian, Paseo Doctor Beguiristain 109, 20014, San Sebastian, Spain

    A. Lopez de Munain

  4. Neurology Department, Hospital Ramón y Cajal, Carretera Colmenar Viejo Km. 9,1, 28034, Madrid, Spain

    A. Jimenez-Escrig

Authors
  1. B. Pilo de la Fuente
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  2. I. Ruiz
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  3. A. Lopez de Munain
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  4. A. Jimenez-Escrig
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Correspondence to B. Pilo de la Fuente.

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Pilo de la Fuente, B., Ruiz, I., Lopez de Munain, A. et al. Cerebrotendinous xanthomatosis: Neuropathological findings. J Neurol 255, 839–842 (2008). https://doi.org/10.1007/s00415-008-0729-6

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  • DOI: https://doi.org/10.1007/s00415-008-0729-6

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