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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Infantile Jansky—Bielschowsky disease Batten disease. He had no cataract or ataxia. Typical clinical characteristics of CTX may include some combination of infantile-onset chronic diarrhea, bilateral cataracts with juvenile onset, tendon xanthomas, psychiatric and abnormal behavioral symptoms, and cognitive and other neurologic impairments. A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns. By using this site, you agree to the Terms of Use and Privacy Policy.

When examined in their 30s, the patients demonstrated cerebellopyramidal signs, myoclonus of the soft palate, mental debility, cataracts, xanthelasmata, and tendon xanthomata. Population screening in a Druze community: CT and MR findings.

Lipid storage disorders Autosomal recessive disorders Skin conditions resulting from errors in metabolism Rare diseases. Inborn errors of lipid metabolism Lipid storage disorders E75 He died of myocardial infarction. If an individual receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will not show symptoms.

When a mutation of a gene occurs, the protein product or enzyme may be faulty, inefficient, or absent. The family histories also revealed fetal and neonatal deaths among sibs of CTX patients. Cholic acid treatment has also been used.


Cerebrotendineous xanthomatosis – Wikipedia

J Cerebrotenrinous Metab Dis. Une forme cerebrale de la cholesterinose generalisee. Different phenotypes in identical twins with cerebrotendinous xanthomatosis: After significant disease progression, treatment does not readily reverse neurological deficits that have already occurred.

The efficacy of treatment with chenodeoxycholic acid can be monitored with GC-MS testing to confirm a decrease in blood cholestanol. For all other comments, please send your remarks via contact us. We are determined to keep this website freely accessible. Although morphologically normal by electron microscopy, HDL had a low cholesterol content. In some cases, specialized imaging techniques may include computerized tomography CT scanning of the head and magnetic resonance imaging MRI of the brain may assist in assessing disease progression in individuals suspected of CTX.

CCC ]. Evidence of xanthomatous involvement of the lungs was found in the male. Characterization of human sterol hydroxylase: Furthermore, untreated patients showed increased levels of apolipoprotein B and albumin. Sterol hydroxylase catalyzes the first step in the oxidation of the side-chain of sterol intermediates in the bile acid synthesis BAS pathway.

An evaluation of an individual with a suspicion for CTX should include a direct inquiry as to a past medical history of unexplained bouts of diarrhea during the childhood period.

Depending upon the functions of the particular protein, this can affect many organ systems of cefebrotendinous body, including the brain. From ganglioside gangliosidoses Ganglioside: Under normal conditions, sterol hydroxylase works in a pathway to break down cholesterol into bile acids necessary for the body to digest fats. Plasma cholesterol concentrations are low normal in CTX patients.

Treatment can prevent symptoms in asymptomatic individuals and stop the progression of disease symptoms in affected individuals.


MRI shows bilateral hyperintensity of the dentate nuclei and cerebral and cerebellar white matter.

The risk is the same for males and females. The initial clinical manifestation may be neonatal cholestasis or chronic diarrhea from infancy.

Rare Disease Database

Mutations in the sterol hydroxylase gene CYP27A cause hepatitis of infancy as well as cerebrotendinous xanthomatosis. Features of cholestasis include yellowing of the skin, mucous membranes and whites of the eyes jaundicefailure to thrive, and growth deficiency. This page was last edited on 9 Julyat Cerebrotendinous xanthomatosis in Spain: Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis. The production of newly synthesized bile acids cersbrotendinous increased to compensate for that loss.

They are an important component of bile and help the intestine to absorb fats. Enroll in the International Ophthalmologists contest. Treatment Because oral bile acid replacement therapy can halt disease progression or prevent symptoms from occurring in asymptomatic individuals, early diagnosis of CTX is extremely important to prevent disease complications.

Neurologic signs and symptoms of CTX usually appear after the second decade. Generally, systemic symptoms develop earlier than neurologic symptoms. Diagnosis CTX is diagnosed based on a thorough clinical evaluation, a detailed patient and family history, identification of characteristic findings, xanthomatpsis a variety of specialized tests including genetic testing and biochemical tests on blood and urine.

The CT scan improved in 7, including 1 patient in whom a cerebellar xanthoma disappeared.