Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive genetic disorder caused by an abnormality in the CYP27A1 gene, resulting in a deficiency. Disease definition. Cerebrotendinous xanthomatosis (CTX) is an anomaly of bile acid synthesis (see this term) characterized by neonatal cholestasis. Cerebrotendinous xanthomatosis is a rare inherited lipid-storage disease characterized clinically by progressive neurologic dysfunction (cerebellar ataxia.

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Introduction CTX was first described in the medical literature in Other search option s Alphabetical list. Medical geneticsEndocrinology.

Cerebrotendineous xanthomatosis

The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. An inherited disorder associated with the deposition of a steroid known as cholestanol in the brain and other tissues and with elevated levels of cholesterol in plasma but with normal total cholesterol level; it is characterized by progressive cerebellar ataxia beginning after puberty and by juvenile cataractsjuvenile or infantile onset chronic diarrhea, childhood neurological deficit, and tendineous or tuberous xanthomas.

Treatment with chenodeoxycholic acid normalizes the production of cholestanol. Role of the hydroxylase in the biosynthesis of bile acids in the normal state and in cerebrotendinous xanthomatosis: In contrast, pravastatin made the sera markedly ‘anti-atherogenic,’ but only modestly reduced cholestanol and sitosterol levels.

It is now known that CTX can occasionally present in childhood with cholestatic liver disease that can be severe or can be mild and resolve on its own in individuals who may later develop other complications of the disorder such as neurological disease. Elevated levels of serum cholestanol are diagnostic of CTX. J Inherit Metab Dis. Coronary heart disease is common.

These xanthomas can also occur on the extensor tendons of the elbow and hand, patellar tendon, and neck tendons. Most affected individuals experience a decline in mental function beginning at puberty, but some show impairment beginning in childhood. Although neurologic manifestations were not evident, these may be late in appearing. Treatment with cholic acid and chenodeoxycholic acid was promising.



Berginer VM et al. The defect in cerebrotendinous xanthomatosis was shown by Cali et al. Infantile spasms have also been reported as a possible symptom.

A mitochondrial cytochrome P that catalyses multiple oxidation reaction in bile acid biosynthesis. Psychiatric abnormalities including behavioral changes, hallucinations, agitation, aggression, depression, and suicidal tendencies can also occur, although specific expression varies greatly. There are proposed suspicion index tables that include family history, systemic symptoms, and neurologic factors that can be used to help aid in the diagnosis of CTX. Top two images show fleck opacities and posterior capsular opacities of the crystalline lens in the right eye of a 14 year old affected with CTX.

Cataract extraction is typically required by age 50 years. Molecular genetic cererotendinous in a certified laboratory may be used to confirm the diagnosis. Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain.

Serum cholesterol levels are also followed.

It was formerly known as “Van Bogaert—Scherer—Epstein syndrome”. Some current clinical trials also are posted on the following page on the NORD website: Diarrhea is often resistant to treatment intractable. Increased muscle tone and stiffness spasticity can occur. These patients develop irregular cortical opacities, anterior polar cataracts, or dense posterior subscapular cataracts. cerebrotendinpus

CTX should be suspected in patients with some combination of infantile onset diarrhea, juvenile onset cerebrtoendinous cataracts, adolescent to young adult-onset tendon xanthoma, and adult-onset progressive neurologic dysfunction.

With familial hypercholesterolemia, however, laboratory testing typically shows increased levels of total cholesterol and LDL cholesterol, which are not features of CTX. There has been no suitable test to screen newborn dried bloodspots DBS for CTX, however development of a methodology to enable cerebgotendinous detection of ketosterol bile acid precursors that accumulate has been investigated and reported by DeBarber AE et al.

Bile acids chenodeoxycholic and cholic acid are synthesized in the liver. Population screening in a Druze community: The mean age of diagnosis is Treatment of cerebrotendinous xanthomatosis. A number sign is used with this entry because cerebrotendinous xanthomatosis is caused by homozygous or compound heterozygous mutation in the CYP27A1 genewhich encodes sterol hydroxylase, on chromosome 2q However, this cerebrotndinous is also used as a first-line therapy to treat individuals with CTX.


Mutations in the sterol hydroxylase gene CYP27A cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. Summary Epidemiology More than patients have been reported xanthomatoais.

CTX is diagnosed based on a thorough clinical evaluation, a detailed patient and family history, identification of characteristic findings, and a variety of specialized tests including genetic testing and biochemical tests on blood and urine. All studies receiving U.

Cerebrotendinous Xanthomatosis (CTX) – EyeWiki

Certain specialized laboratories can conduct analysis to detect biochemical features that are indicative of CTX. During the provocation test, heterozygotes, like homozygotes, produce raised quantities of the pentol, which is excreted in the urine. Management and treatment First-line treatment is based on chenodeoxycholic acid CDCA xanthomatosi therapy, which normalizes BAS and cholestanol concentrations, and improves neurological symptoms.

Genetic counseling should be offered to affected families. Treatment can prevent symptoms in asymptomatic individuals xanthomatosid stop the progression of disease symptoms in affected individuals.

For cerfbrotendinous other comments, please send your remarks via contact us. Clinical and molecular diagnosis of cerebrotendinous xanthomatosis with a review of the mutations in the Xwnthomatosis gene. An MRI uses a magnetic field and radio waves to produce cross-sectional images of particular organs and bodily tissues. Deposits of cholesterol and cholestanol a derivative of cholesterol accumulate in the nerve cells and membranes potentially causing damage to the brain, spinal cord, tendons, lens of the eye and arteries.

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