Van Bogart – Scherer – Epstein Syndrome ( cerebro-tendinous cholesterosis , cholesterol lipidosis ) is a rare autosomal recessive hereditary disease , manifested by a lipid metabolism disorder that leads to the accumulation of lipids in cells ( cholesterol lipidosis ) [1 ] . The cause of the disease is a mutation in the CYP27A1 gene encoding the mitochondrial enzyme sterol-27-hydroxylase .
| Syndrome van Bogart - Scherer - Epstein | |
|---|---|
 Electron microscopy : micrograph in cross section of human mitochondria | |
| ICD-10 | E 75.5 |
| ICD-10-KM | |
| ICD-9 | 272.7 |
| Omim | 213700 |
| Diseasesdb | 29239 |
| Mesh | D019294 |
Content
Eponym
The disease was named after the pathologists who described it in 1937: the Belgian - Ludo van Bogaert (1897-1989), the German - Hans Joachim Scherer (1906-1945) and the Austrian - Emil Epstein ( Emil Epstein , 1875-1951) [3] [4] .
Inheritance
Van Bogart – Scherer – Epstein syndrome is inherited according to the autosomal recessive type of inheritance [5] . Therefore, it occurs with equal frequency in both men and women . The disease clinically manifests only when both autosomes , received one from the father and mother, are defective in the CYP27A1 gene. The CYP27A1 gene is located on the long arm of chromosome 2 at the 2q35 locus [6] .
Pathogenesis
The deposition of amorphous and crystalline cholesterol in the white matter of the cerebellum and in the region of the legs of the brain leads to the occurrence of heditary cerebellar ataxia , mental disorders, manifested by a delay in mental development , intellectual insufficiency up to the development of imbecility [1] [7] .
See also
- Wolman's disease
- Gene diseases
- Parenchymal dystrophies
- Lysosomal storage diseases
Notes
- ↑ 1 2 Bleicher V.M., Kruk I.V. . Explanatory Dictionary of Psychiatric Terms. - Voronezh: NPO MODEK, 1995. - 640 p . pedlib.ru. Date of treatment January 11, 2015.
- ↑ E 75.5
- ↑ van Bogaert L., Scherer HJ, Epstein E. Une forme cérébrale de la cholestérinose généralisée (type particulier de lipidose à cholestérine). - Paris, Masson, 1937.
- ↑ Saratov Neurological Portal . Van Bogart - Scherer - Epstein syndrome . neurosar.ru. Date of treatment January 11, 2015.
- ↑ T.R. Harrison. Internal Medicine in 10 books. Book 8. Trans. from English M. , Medicine , 1996, 320 pp.: Silt . Chapter 316. Lysosomal diseases of accumulation (p. 250—273) . med-books.info. Date of treatment January 11, 2015.
- ↑ OMIM 213700 (English) . Cerebrotendinos xanthomatosis; CTX . OMIM Date of treatment January 11, 2015.
- ↑ Explanatory Dictionary of Psychiatric Terms (Inaccessible link) . Van Bogart – Scherer – Epstein Syndrome . meddics.ru. Date of treatment January 11, 2015. Archived January 11, 2015.