title: Cerebrotendinous xanthomatosis: neuropathological findings.
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.
authors.affiliation: Division of Neurology, Virgen del Puerto Hospital, Paraje de Valcorchero s/n Plasencia, 10600 Céceres, Spain. bpilodelafuente@yahoo.es
authors.forename: B
authors.initials: B
authors.lastname: Pilo de la Fuente
authors.forename: I
authors.initials: I
authors.lastname: Ruiz
authors.forename: A
authors.initials: A
authors.lastname: Lopez de Munain
authors.forename: A
authors.initials: A
authors.lastname: Jimenez-Escrig
mesh_terms: D001253:Astrocytes / Q000378:metabolism / Q000473:pathology; D001284:Atrophy / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D001921:Brain / Q000378:metabolism / Q000473:pathology* / Q000503:physiopathology; D002531:Cerebellum / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology; D053493:Cholestanetriol 26-Monooxygenase / Q000235:genetics; D002784:Cholesterol / Q000378:metabolism; D003072:Cognition Disorders / Q000209:etiology* / Q000473:pathology* / Q000503:physiopathology; D005911:Gliosis / Q000209:etiology / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D008264:Macrophages / Q000378:metabolism / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009413:Nerve Fibers, Myelinated / Q000378:metabolism / Q000473:pathology; D019965:Neurocognitive Disorders / Q000209:etiology* / Q000473:pathology* / Q000503:physiopathology; D009474:Neurons / Q000378:metabolism / Q000473:pathology; D011379:Prognosis; D035583:Rare Diseases; D013250:Steroid Hydroxylases / Q000235:genetics; D019294:Xanthomatosis, Cerebrotendinous / Q000473:pathology* / Q000503:physiopathology
chemical_list: D002784:Cholesterol; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase