Question:

All the MRI findings of brain in cerebrotendinous xanthomatosis are true except.
1. T2W hyperintense lesion seen in Dentate nucleus
2. T2W hyperintense lesion seen in globus pallidus
3. T2W hyperintense lesion seen in spinal cord
4. T2W hyperintense lesion seen in red nucleus
5. T2W hyperintense lesion seen in substantia nigra





Answer:

The correct answer for the question "All the MRI findings of brain in cerebrotendinous xanthomatosis are true except." is:

4. T2W hyperintense lesion seen in red nucleus



Explanation
CTX is not characterized by lesions in the red nucleus. [T2W and FLAIR images obtained showed areas of high signal intensity in the cerebellum, predominantly in the bilateral Dentate nucleus. There were also T2W and FLAIR hyperintense lesions seen in the bilateral substantia nigra and bilateral globus pallidus. Although, there are cases reported on literature with similar T2 hyperintense lesions in the cord.]



From the manuscript:
Cerebrotendinous xanthomatosis - The spectrum of imaging findings
Radiology Case. 2013 Apr; 7(4):1-9


This article belongs to the Neuro section.




Bookmark and Share

From the manuscript

Cerebrotendinous xanthomatosis - The spectrum of imaging findings

Free full text article: Cerebrotendinous xanthomatosis -  The spectrum of imaging findings

Abstract
Cerebrotendinous xanthomatosis (CTX), also known as Van Bogaert-Scherer-Epstein disease is a rare autosomal recessive genetic disorder of the lipid metabolism. To date, there are less than 300 cases reported worldwide. We present a case of a 30 year old male who presented with mental retardation and swelling of ankles, with the a spectrum of CTX imaging findings. Imaging studies were performed which included plain X-ray, Ultrasound (US) and Magnetic Resonance Imaging(MRI) of both the brain and ankles. These pointed towards the diagnosis of CTX with the entire spectrum of findings which was confirmed with biopsy and laboratory findings. CTX is a potentially treatable condition with replacement therapy, and hence early diagnosis before neurological deterioration is important. This is aided by the imaging findings which are conclusive forte diagnosis of CTX.






References



1. Barkhof F, Verrips A, Wesseling P. Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings.Radiology 2000; 217: 869- 876.
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


2. Dotti MT, Federico A, Signorini E. AJNR Am J Neuroradiol 1994; 15:1721-1726.
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


3. Chatterjee G, Chakraborty I, Das TK, Datta C. Cerebrotendinous xanthomatosis in a family. Indian J Dermatol 1999; 44(3):153-6.
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


4. Berginer VM, Salen G, Shefer S. Long-term treatment of cerebrotendinous xanthomatosis with chenodeoxycholic acid. N Engl J Med.1984;311:1649-52
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


5. Gallus GN, Dotti MT, Federico A. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the CYP27A1 gene. Neurol Sci 2006;27:143-9
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


6. Moghadasian MH. Cerebrotendinous xanthomatosis: clinical course, genotypes and metabolic backgrounds. Clin Invest Med 2004;27:42-50
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


7. Cruysberg JR, Wevers RA, Tolboom JJ. Juvenile cataract associated with chronic diarrhea in pediatriccerebrotendinous xanthomatosis. Am J Ophthal 1991;112
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


8. Dotti MT, Lütjohann D, von Bergmann K, Federico A. Normalisation of serum cholestanol concentration in a patient with cerebrotendinous xanthomatosis by combined treatment with chenodeoxycholic acid, simvastatin and LDL apheresis. Neurol Sci 2004;25:185-91
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


9. Kuriyama M, Tokimura Y, Fujiyama J, Utatsu Y, Osame M. Treatment of cerebrotendinous xanthomatosis: effects of chenodeoxycholic acid, pravastatin, and combined use. J Neurol Sci 1994;125:22-8
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


10. Berginer VM, Berginer J, KorczynAD,Tadmor R. Magnetic resonance imaging in cerebrotendinous xanthomatosis: aprospective clinical and neuroradiological study. J NeurolSci 1994; 122:102-108
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


11. Verrips A, Nijeholt GJ, Barkhof F. Spinal xanthomatosis: a variant of cerebrotendinous xanthomatosis. Brain 1999;122:1589-1595
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


12. Federico A, Dotti MT. Cerebrotendinous xanthomatosis: clinical manifestations, diagnostic criteria, pathogenesis, and therapy. J Child Neurol 2003 Sep;18(9):633-8
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine


13. Salen G, Berginer V, Shore V. Increased concentrations of cholestanol and apolipoprotein B in the cerebrospinal ?uid of patients with cerebrotendinous xanthomatosis: effect of chenodeoxycholic acid. N Engl J Med 1987 May 14;316(20):1233-8
Get full text
Find similar topics on Read this article on PubMed :: Find similar articles on Google scholarScholar :: Search for similar topics with the Radiology specific search engine Radiology search engine




Search for articles with similar topics:

Keyword search:

1. Cerebrotendinous xanthomatosis

2. CTX

3. Cholestanol

4. CYP27A1

5. Chenodeoxycholic acid


This article belongs to the Neuro section.


Search for more in the Internet

Peer-reviewed Radiology Search




Discuss it!

Bookmark and Share




© Journal of Radiology Case Reports - The Interactive Radiology Journal
Affiliated journal of Radiolopolis - The International Radiology Community


The Journal of Radiology Case Reports