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 Cerebrotendinus was first described in cerehrotendinous medical literature in The cerebellar white matter was demyelinated and contained cholesterol deposits.

The mean age of diagnosis is 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. Diagnosis 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.

Irreversible neurological deterioration is present in late disease.

Additional treatment is symptomatic and supportive. Treated patients may have a normal lifespan.


In addition to cataracts, which were found in all cases, optic disc pallor was identified in 6 of the patients. CT and MR findings. Views Read Edit View history. In CTX, the gene mutation is inherited in an autosomal recessive manner.


Depending upon the functions of the particular protein, this can affect many organ systems of the body, including the brain. Features of cholestasis include yellowing of the skin, mucous membranes and whites of the eyes jaundicefailure to thrive, and growth deficiency.

The first symptom may be chronic diarrhea in infancy.

HMG-CoA reductase inhibitors can also cause muscle damage. D ICD – Recent estimates for the incidence of CTX range from 1: The hallmark manifestations of CTX have variable onset and severity, which may lead to delayed-diagnosis and under-diagnosis.

These bile alcohols are excreted in bile, urine, and feces, but cholestanol accumulates, especially in the brain, peripheral nerves, lenses, and tendons, and causes the signs and symptoms of CTX.

The substrate for cerebrotenrinous accumulated in the microsomal fraction to a level about 50 times normal. Neurologic signs and symptoms of CTX usually appear after the second decade. The authors concluded that spinal xanthomatosis should be included in the differential diagnosis of chronic myelopathy. Differential diagnoses include other causes of xanthomata such as sitosterolemia and hyperlipemia especially type IIa, also known as familial hypercholesterolemia [see these terms]and for infants presenting with cholestasis, all other causes of neonatal cholestasis.

The majority of mutations are amino acid substitutions; splice site mutations have also been reported. Psychiatric manifestations xanthomatsis cerebrotendinous xanthomatosis.

In untreated patients, life expectancy is 50 to 60 years.

Cerebrotendineous xanthomatosis

Box Bethesda, MD Phone: The lack of this enzyme prevents cholesterol from being converted into the bile acid chenodeoxycholic acid. Retrieved from ” https: Currently there are no clinical trials being conducted for CTX.


Other MRI findings may show signal alterations of the cerebral peduncle, corona radiate, and subcortical white matter. The block in synthesis of this bile acid causes xanthmoatosis of bile acid precursors and cholestanol in blood and tissues of affected individuals.

Cerebrotendinous Xanthomatosis (CTX)

For all other comments, please send your remarks via contact us. Fleck lenticular deposits may be an early sign of CTX. Large deposits of cholesterol and cholestanol are found in virtually every tissue, particularly the Achilles tendons, brain, and lungs. Symptoms of the following disorders can be similar to those of CTX. Furthermore, untreated patients showed increased levels of apolipoprotein B and albumin.

However, primary neurologic signs, diarrhea, and cataracts are not present in this disease. With familial hypercholesterolemia, however, laboratory testing typically shows increased levels of total cholesterol and LDL cholesterol, which are not features of CTX.

Together we are strong. A useful multi-analyte blood test for cerebrotendinous xanthomatosis.

Infants may present with cholestasis and liver dysfunction. Image with permission from Dr Arif O.