The cérébrotendineuse xanthomatosis is a Genetic disease in connection with an enzymatic deficit of sterol 27-hydroxylase outcome to an accumulation of Cholestanol and Cholestérol in all the organization.
This disease is characterized by occurred of Diarrhée in the first childhood, then of cataract, Xanthome S tendineux in adolescence and the adulthood then appearance of central nervous system disorders and psychiatric (Démence, pyramidal Syndrome, cérébelleux Syndrome, epilepsy).
The Diarrhée is the earliest sign of the disease although the most usual demonstration is the appearance of a cataract before 10 years. The xanthomes are located on the Tendon of Achilles, the tendon bungee cord of the elbow and the hand, on the tendons of the knee and the tendons of the neck. But they can be also located on the level of the lungs, the bones and the central nervous system.
Some people show disorders of the mental functions in childhood but the majority are normal until puberty. The reduction in the intellectual abilities with appearance of an insanity reaches approximately half of the individuals between twenty and thirty years.
The psychiatric demonstrations like the hallucinations, agitation, aggressiveness, depression and suicide are the most obvious signs. A cérébelleux spasticity and signs are always present before 30 years. The other demonstrations include/understand pseudo-parkinsonian Dystonie, epilepsy, neuropathy and syndrome.
Biology reveals the consequences of the enzymatic deficit: blood cholesterol normal level with very high rate of cholestanol in fabrics.
The chenodesoxycholic catch of 750 milligrams per day of acid improves the disease.
- Antonio Federico, Maria Teresa Dotti, Cerebrotendinous Xanthomatosis in GeneTests: Medical Genetics Information Resource (database online). Copyright, University off Washington, Seattle. 1993-2005
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