Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
Book Review
Brief Report
Case Letter
Case Report
Case Series
Commentary
Current Issue
Editorial
Erratum
Guest Editorial
Images
Images in Neurology
Images in Neuroscience
Images in Neurosciences
Letter to Editor
Letter to the Editor
Letters to Editor
Letters to the Editor
Media and News
None
Notice of Retraction
Obituary
Original Article
Point of View
Position Paper
Review Article
Short Communication
Systematic Review
Systematic Review Article
Technical Note
Techniques in Neurosurgery
Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
Book Review
Brief Report
Case Letter
Case Report
Case Series
Commentary
Current Issue
Editorial
Erratum
Guest Editorial
Images
Images in Neurology
Images in Neuroscience
Images in Neurosciences
Letter to Editor
Letter to the Editor
Letters to Editor
Letters to the Editor
Media and News
None
Notice of Retraction
Obituary
Original Article
Point of View
Position Paper
Review Article
Short Communication
Systematic Review
Systematic Review Article
Technical Note
Techniques in Neurosurgery
Generic selectors
Exact matches only
Search in title
Search in content
Post Type Selectors
Search in posts
Search in pages
Filter by Categories
Book Review
Brief Report
Case Letter
Case Report
Case Series
Commentary
Current Issue
Editorial
Erratum
Guest Editorial
Images
Images in Neurology
Images in Neuroscience
Images in Neurosciences
Letter to Editor
Letter to the Editor
Letters to Editor
Letters to the Editor
Media and News
None
Notice of Retraction
Obituary
Original Article
Point of View
Position Paper
Review Article
Short Communication
Systematic Review
Systematic Review Article
Technical Note
Techniques in Neurosurgery
View/Download PDF

Translate this page into:

Case Report
4 (
Supp 1
); S87-S90
doi:
10.4103/0976-3147.116420

Cerebrotendinous Xanthomatosis: Report of two cases and a novel genetic mutation in an Indian patient

Department of Neurology, PGIMER and Dr. RML Hospital, New Delhi, India

Dr. Bhupender Kumar Bajaj Department of Neurology, PGIMER and Dr. RML Hospital New Delhi, India India docbajaj@yahoo.co.in

Licence
This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commercial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)
Disclaimer:
This article was originally published by Thieme Medical and Scientific Publishers Private Ltd. and was migrated to Scientific Scholar after the change of Publisher.

Abstract

ABSTRACT

Cerebrotendinous Xanthomatosis (CTX) is an autosomal recessive disorder of bile acid metabolism manifesting typically with the triad of neurological dysfunction, tendon xanthoma, and early onset cataract. The diagnosis is often missed and delayed as the patients do not manifest all the classical features. Early recognition and initiation of chenodeoxycholic acid therapy with Hydoxymethylglutaryl Coenzyme‑A (HMG‑Co‑A) inhibitors is critical to prevent irreversible neurological damage and permanently disabled existence. We report about two patients, both of whom remained undiagnosed for more than 20 years. Genetic analysis in one of the patients revealed a novel genetic mutation in one of the homologous genes. The patient was found to have heterozygous mutation of CTX gene with a novel mutation in exon 1 of CYP27A1 gene.

Keywords

Ataxia
cataract
cerebrotendinous xanthomatosis
cerebellar hyperintensities
genetic mutation
quadriparesis

Conflict of Interest

None declared

References

  1. , , , , . Cerebrotendinous xanthomatosis: Possible higher prevalence than previously recognized. Arch Neurol. 2005;62:1459-63.
    [Google Scholar]
  2. , , , , . A neurological rarity not to be missed: Cerbrotendinous xanthomatosis. Pract Neurol. 2011;11:296-300.
    [Google Scholar]
  3. , , , . Cerebrotendinous xanthomatosis: The storage of cholestanol within the nervous system. Arch Neurol. 1968;19:47-53.
    [Google Scholar]
  4. , , . 2 novel deletions of the sterol 27 hydroxylase gene in a Chinese family with cerebrotendinous xanthomatosis. BMC Neurol. 2011;11:130.
    [Google Scholar]
  5. , , . Genetics of cerebrotendinous xanthomatosis (CTX): An autosomal recessive trait with high gene frequency in Sephardim of Moroccan origin. Am J Med Genet. 1981;10:151-7.
    [Google Scholar]
  6. , , , , . Cerebrotendinous xanthomatosis in a family. Indian J Dermatol. 1999;44:153-6.
    [Google Scholar]
  7. , , , , . Cerebrotendinous xanthomatosis: A treatable cause of metabolic ataxia. J Assoc Physicians India. 2007;55:655-7.
    [Google Scholar]
  8. , , , , , , . Cerebrotendinous xanthomatosis: A case report. Acta Cytol. 2007;51:654-6.
    [Google Scholar]
  9. , , . Cerbrotendinousxanthomatosis with oromandibular dyskinesia. Neurol India. 2003;51:556-8.
    [Google Scholar]
  10. , , , . Cerebrotendinous xanthomatosis, early diagnosis mandatory: Report of a case from North India. Neurology Asia. 2008;13:125-8.
    [Google Scholar]
  11. , , , . Cerebrotendinous xanthomatosis. Indian J Pediatr. 2010;77:697-8.
    [Google Scholar]
  12. , , , , , , . Cerebrotendinous xanthomatosis: Neuroimaging findings of two siblings from an Indian family. Neurol India. 2003;51:401-3.
    [Google Scholar]
  13. , , , . Cerebrotendinous xanthomatosis: Need for early diagnosis. Indian J Dermatol Venereol Leprol. 2006;72:364-6.
    [Google Scholar]
  14. , , , , . Case report: Cerebrotendinous xanthomatosis. Indian J Radiol Imaging. 2009;19:314-7.
    [Google Scholar]
  15. , , , , , , et al . Effect of Simvastatin in addition to Chenodeoxycholic acid in patients with cerebrotendinous xanthomatosis. Metabolism. 1999;48:233-8.
    [Google Scholar]

Fulltext Views
439

PDF downloads
145
View/Download PDF
Download Citations
BibTeX
RIS
Show Sections