Cerebrotendinous xanthomatosis

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Classification according to ICD-10
E75.5 Other disorders of lipid storage
Cerebrotendinous xanthomatosis [van-Bogaert-Scherer-Epstein syndrome]
ICD-10 online (WHO version 2019)

The cerebrotendinöse cholesterosis or Cerebrotendinous cholesterosis (abbreviation CTX ) is a rare, autosomal - recessive inherited metabolic disease. It belongs to the group of leukodystrophies . It was first described in 1937 by van Bogaert, Epstein and Scherer , which is why it is also known as Van-Bogaert-Scherer-Epstein syndrome .

Cause and genetics

CTX is caused by a mutation of the sterol 27 hydroxylase gene ( CYP 27 A1 ), which is located on chromosome 2q35-qter. The mode of inheritance is autosomal recessive. The sterol-27-hydroxylase is the rate-limiting enzyme of the bile acid metabolism, its defect leads to increased concentrations of cholestanol and other intermediate products of bile acid synthesis in plasma and tissues and to the increased excretion of bile alcohol in the urine.

properties

Occasionally the disease manifests as cholestasis in newborns or chronic diarrhea in infants, and bilateral juvenile cataracts develop in many patients . If left untreated, xanthomas on the Achilles tendon and other tendons develop in most people in the second and third decades of life , and progressive, sometimes severe, neurological and psychiatric disorders such as dementia , behavioral problems and ataxia develop .

diagnosis

An increased cholestanol plasma level (5 to 10-fold increase) is diagnostic, and molecular genetic evidence of a CYP 27 A 1 mutation confirms the diagnosis .

treatment

An effective treatment for CTX is oral administration of chenodeoxycholic acid (CDCA) as early as possible , which is almost completely absent in patients. If hypercholesterolemia cannot be controlled with CDCA alone, HMG-CoA reductase inhibitors (statins) can also be given.

Web links

Individual evidence

  1. ↑ a b Online 'Mendelian Inheritance in Man' (OMIM) 213700
  2. ^ Synd / 1452 at Who Named It?
  3. ↑ L. van Bogaert, HJ Scherer, E. Epstein: Une forme cérébrale de la cholestérinose généralisée (type particulier de lipidose à cholestérine). Masson, Paris 1937.
  4. ↑ Online 'Mendelian Inheritance in Man' (OMIM) 606530
  5. ↑ JY Chiang: Regulation of bile acid synthesis. In: Front Biosci. 3, February 199, pp. D176-d193. PMID 9450986 .
  6. ↑ B. Pilo de la Fuente, I. Ruiz, A. Lopez de Munain, A. Jimenez-Escrig: Cerebrotendinous xanthomatosis: Neuropathological findings. In: J. Neurol. 255 (6), May 2008, pp. 839-842. doi: 10.1007 / s00415-008-0729-6 . PMID 18458861 .
  7. ^ S. Nie, G. Chen, X. Cao, Y. Zhang: Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. In: Orphanet J Rare Dis. 9, 26 Nov 2014, p. 179. doi: 10.1186 / s13023-014-0179-4 . PMID 25424010
  8. ↑ Cerebrotendinous Xanthomatosis ~ treatment at eMedicine