Cerebrotendineous xanthomatosis
| Cerebrotendinous xanthomatosis | |
|---|---|
| Other names | cerebrotendineous xanthomatosis |
 | |
| Cerebrotendineous xanthomatosis has an autosomal recessive pattern of inheritance. | |
| Specialty | Medical genetics, endocrinology  |
Cerebrotendinous xanthomatosis, also called cerebral cholesterosis,.
Presentation
An inherited disorder associated with the deposition of a
Genetics
CTX is associated with
Diagnosis
Elevated levels of serum cholestanol are diagnostic of CTX. Alternatively analysis of 27-hydroxycholesterol and 7 alpha hydroxycholesterol can be used. Genetic testing of the CYP27A1 gene is confirmatory and is increasingly being used as a first line test as part of symptom specific gene panels (genetic eye disease, ataxia, dementia).[citation needed]
Treatment
The standard treatment is chenodeoxycholic acid (CDCA) replacement therapy. Serum cholesterol levels are also tracked. If hypercholesterolemia is not controlled with CDCA, an HMG-CoA reductase inhibitor ("statins" such as simvastatin) can also be used.[5]
Eponym
It was formerly known as "Van Bogaert–Scherer–Epstein syndrome".[6][7]
See also
- Sitosterolemia
- List of cutaneous conditions
References
- ^ a b Online Mendelian Inheritance in Man (OMIM): 213700
- ^ S2CID 31001655.
- ISBN 978-0-7216-2921-6.
- ^ Online Mendelian Inheritance in Man (OMIM): 606530
- ^ Cerebrotendinous Xanthomatosis~treatment at eMedicine
- Who Named It?
- ^ L. van Bogaert, H. J. Scherer, E. Epstein. Une forme cérébrale de la cholestérinose généralisée (type particulier de lipidose à cholestérine). Paris, Masson, 1937.