Document Detail


Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings.
MedLine Citation:
PMID:  11110956     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
PURPOSE: To describe imaging findings and their neuropathologic correlate in patients with cerebrotendinous xanthomatosis (CTX). MATERIALS AND METHODS: Computed tomographic (CT) and magnetic resonance (MR) images in 24 patients with symptoms (mean age at time of imaging, 37 years; mean disease duration, 18 years) were reviewed for site and frequency of brain, spinal cord, and Achilles tendon involvement. Two patients died, and imaging findings were compared with postmortem neuropathologic findings. RESULTS: Apart from nonspecific supratentorial atrophy and deep white matter changes, more typical hyperintense lesions were seen on T2-weighted images in the dentate nucleus (in 79% of patients), globus pallidus, substantia nigra, and inferior olive and extended into adjacent white matter as disease progressed. In these locations, lipid crystal clefts and perivascular macrophages, neuronal loss, demyelination, fibrosis, and reactive astrocytosis were found at microscopic examination. Hypointensity was sometimes found on T2-weighted images in the dentate nucleus and was related to deposition of hemosiderin and calcifications. CT depicted fewer lesions; all had low attenuation, except for the calcifications. Spinal cord MR imaging revealed increased signal intensity in the lateral and dorsal columns on T2-weighted images. Achilles tendon xanthomas displayed intermediate signal intensity on T1- and T2-weighted images. CONCLUSION: The typical pattern of MR imaging findings reflects the classic histopathologic findings and should prompt the diagnosis of CTX.
Authors:
F Barkhof; A Verrips; P Wesseling; M S van Der Knaap; B G van Engelen; F J Gabreëls; A Keyser; R A Wevers; J Valk
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Radiology     Volume:  217     ISSN:  0033-8419     ISO Abbreviation:  Radiology     Publication Date:  2000 Dec 
Date Detail:
Created Date:  2001-01-02     Completed Date:  2001-01-11     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0401260     Medline TA:  Radiology     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  869-76     Citation Subset:  AIM; IM    
Affiliation:
Depts of Radiology, Academic Hospital "Vrije Universiteit," De Boelelaan 1118, 1081 HV Amsterdam, The Netherlands. f.barkhof@azvu.nl
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Child
Female
Humans
Magnetic Resonance Imaging / methods*
Male
Middle Aged
Retrospective Studies
Tomography, X-Ray Computed
Xanthomatosis, Cerebrotendinous / pathology*,  radiography

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