Journal of Neurology

, Volume 255, Issue 6, pp 839–842

Cerebrotendinous xanthomatosis: Neuropathological findings

  • B. Pilo de la Fuente
  • I. Ruiz
  • A. Lopez de Munain
  • A. Jimenez-Escrig
ORIGINAL COMMUNICATION

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.

Key words

cerebrotendinous xanthomatosis 27-hydroxylase CYP27A1 necropsy 

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Copyright information

© Steinkopff-Verlag 2008

Authors and Affiliations

  • B. Pilo de la Fuente
    • 1
  • I. Ruiz
    • 2
  • A. Lopez de Munain
    • 3
  • A. Jimenez-Escrig
    • 4
  1. 1.Division of NeurologyVirgen del Puerto HospitalCéceresSpain
  2. 2.Pathology DepartmentHospital San SebastianSan SebastianSpain
  3. 3.Neurology DepartmentHospital San SebastianSan SebastianSpain
  4. 4.Neurology DepartmentHospital Ramón y CajalMadridSpain

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