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(Radiology. 2000;217:869-876.)
© RSNA, 2000

Neuroradiology

Cerebrotendinous Xanthomatosis: The Spectrum of Imaging Findings and the Correlation with Neuropathologic Findings1

Frederik Barkhof, MD, Aad Verrips, MD, Pieter Wesseling, MD, Marjo S. van der Knaap, MD, Baziel G. M. van Engelen, MD, Fons J. M. Gabreëls, MD, Antoine Keyser, MD, Ron A. Wevers, MD and Jaap Valk, MD

1 From the Depts of Radiology (F.B., J.V.) and Pediatric Neurology (M.S.v.d.K.), Academic Hospital "Vrije Universiteit," De Boelelaan 1118, 1081 HV Amsterdam, the Netherlands; and the Depts of Pediatric Neurology (A.V., F.J.M.G.), Pathology (P.W.), and Neurology (P.W., B.G.M.v.E., A.K.) and the Laboratory of Pediatrics and Neurology (R.A.W.), Univ Hosp Nijmegen, the Netherlands. Received Sep 15, 1999; revision requested Nov 5; final revision received Mar 31, 2000; accepted May 1. Address correspondence to F.B. (e-mail: f.barkhof@azvu.nl).

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.

Index terms: Brain, abnormalities, 13.839, 13.87, 15.839, 15.87 • Brain, atrophy, 13.839, 13.87, 15.839, 15.87 • Brain, diseases, 13.839, 13.87, 15.839, 15.87 • Brain, MR, 10.121411 • Cerebrotendinous xanthomatosis, 10.839, 10.318 • Spinal cord, 31.3189, 32.3189 • Tendons, 469.3189 • Xanthoma, 469.3189




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