Cerebrotendinous xanthomatosis: The spectrum of imaging findings and the correlation with neuropathologic findings

Radiology

Volumn 217, Issue 3, 2000, Pages 869-876

  Barkhof, F ^a   Verrips, A ^a   Wesseling, P ^a   Van der Knaap, M S ^a   Van Engelen, B G M ^a   Gabreels, F J M ^a   Keyser, A ^a   Wevers, R A ^a   Valk, J ^a  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

Author keywords

Brain, abnormalities; Brain, atrophy; Brain, diseases; Brain, MR; Cerebrotendinous xanthomatosis; Spinal cord; Tendons; Xanthoma

Indexed keywords

HEMOSIDERIN;

ACHILLES TENDON; ADOLESCENT; ADULT; ARTICLE; BRAIN ATROPHY; BRAIN DISEASE; CALCIFICATION; CEREBROTENDINOUS XANTHOMATOSIS; CLINICAL ARTICLE; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; DENTATE NUCLEUS; DIAGNOSTIC IMAGING; FEMALE; HUMAN; MALE; NEUROPATHOLOGY; NUCLEAR MAGNETIC RESONANCE IMAGING; PRIORITY JOURNAL; RADIATION ATTENUATION; SCHOOL CHILD; SPINAL CORD;

EID: 0033693277     PISSN: 00338419     EISSN: None     Source Type: Journal    
DOI: 10.1148/radiology.217.3.r00dc03869     Document Type: Article

References (41)

1. Cerebrotendinous xanthomatosis: Defective liver mitochondrial hydroxylation of chenodeoxycholic acid precursors
2. Inborn errors in bile acid biosynthesis and storage of sterols other than cholesterol
3. Diagnosis of cerebrotendinous xanthomatosis (CTX) and effect of chenodeoxycholic acid therapy by analysis of urine using capillary gas chromatography
4. Use of determinations of 7-lathosterol (5 alpha-cholest-7-en-3 betaol) and other cholesterol precursors in serum in the study and treatment of disturbances of sterol metabolism, particularly cerebrotendinous xanthomatosis
5. Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis
6. Ocular and systemic manifestations of cerebrotendinous xanthomatosis
7. Osteoporosis and increased bone fractures in cerebrotendinous xanthomatosis
8. Cerebrotendinous xanthomatosis: Description of 2 cases and differential diagnosis in relation to encephalomyelitis disseminata
9. The neuropathology of cerebrotendinous xanthomatosis revisited: A case report and review of the literature
10. Neuroaxonal pathology of central and peripheral nervous systems in cerebrotendinous xanthomatosis (CTX)
11. Membranocystic lesion in the brain in cerebrotendinous xanthomatosis: Histochemical and ultrastructural study with evidence of its ceroid nature
12. Etude anatomo-clinique d'un cas de cholesterinose cerebrale
13. Cholestanolosis (cerebrotendinous xanthomatosis): A follow-up study on the original family
14. Cerebrotendinous xanthomatosis: Clinical and pathological studies
15. Cerebrotendinous xanthomatosis (CTX): A clinical survey of the patient population in the Netherlands
16. Cerebrotendinous xanthomatosis: Cranial CT and MRI studies in eight patients
17. Magnetic resonance imaging in cerebrotendinous xanthomatosis: A prospective clinical and neuroradiological study
18. Cerebrotendinous xanthomatosis (van Bogaert-Scherer-Epstein disease): CT and MR findings
19. Exon skipping in the sterol 27-hydroxylase gene leads to cerebrotendinous xanthomatosis
20. Increased speech rate (tachylalia) in cerebrotendinous xanthomatosis: A new sign
21. Spinal xanthomatosis: A variant of cerebrotendinous xanthomatosis
22. Effect of simvastatin in addition to chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis
23. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid
24. Magnetic resonance imaging of the brain and spinal cord in cerebrotendinous xanthomatosis
25. Demyelinating and gliotic cerebellar lesions in Langerhans cell histiocytosis
26. Cerebral manifestation of Erdheim-Chester disease: Clinical and radiologic findings
27. Cerebral Erdheim-Chester disease: Report of two cases with progressive cerebellar syndrome with dentate abnormalities on magnetic resonance imaging
28. Brain MRI and electrophysiologic abnormalities in preclinical and clinical adrenomyeloneuropathy
29. MR imaging of the spinal cord in 23 subjects with ALD-AMN complex
30. MR imaging of adrenoleukodystrophy
31. MR findings in infantile Refsum disease: Case report of two family members
32. Computed tomography in cerebrotendinous xanthomatosis
33. Cerebrotendinous xanthomatosis
34. Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal fluid of patients with cerebrotendinous xanthomatosis: Effect of chenodeoxycholic acid
35. Effect of cholestanol feeding on sterol concentrations in the serum, liver, and cerebellum of mice
36. Cholestanol induces apoptosis of cerebellar neuronal cells
37. Images in clinical medicine: Achilles'-tendon xanthoma in familial hypercholesterolemia
38. Ectopic xanthomas in familial (type II) hypercholesterolemia
39. Resolution of xanthomas in Alagille syndrome after liver transplantation
40. Xanthomas and hyperlipidemias