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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TEXT 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 J Inherit Metab Dis.

Cerebrotendineous xanthomatosis – Wikipedia

Retrieved from ” http: In a tabular presentation, Moghadasian et al. Mean plasma cholestanol levels declined 3-fold. The same mitochondrial fraction catalyzed hydroxylation of vitamin D3. Create account Log in.

Rare Disease Database

Juvenile cataract associated with chronic diarrhea in pediatric cerebrotendinous xanthomatosis. The documents contained in this web site are presented for information purposes only. Other search option s Alphabetical list.

Some early deaths in infancy have also been reported. Recent estimates for the incidence of CTX range from 1: Unusual cerebrotendinous xanthomatosis with fronto-temporal dementia phenotype.


Tendinous xanthomas fatty tumors appear in the second or third decade and can be located on the Achilles tendon, extensor tendons of the elbows and hands, and the knees. Mean age of diagnosis is Van Bogaert et al. Summary Epidemiology More than patients have been reported worldwide. Only comments written in English can be processed. Both patients had high plasma levels of cholestanol.


This is the gold standard for diagnosis. Currently there are no clinical trials being conducted for CTX. Features of cholestasis include yellowing of the skin, mucous membranes and whites of the eyes jaundicefailure to thrive, and growth deficiency. Detection of carriers of cerebrotendinous xanthomatosis. Enroll in the International Ophthalmologists contest.

xanthomatowis We need long-term secure funding to provide you the information that you need at your fingertips. Diagnosis was best based on determination of urinary bile alcohols, in particular 5-beta-cholestanealpha,7-alpha,alpha,23,pentol, by means of capillary gas chromatography.

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.

Cerebeotendinous may experience extrapyramidal manifestations dystonia and atypical parkinsonismand peripheral neuropathy. Tendon xanthomas, caused by cholestanol buildup in the tendons, usually appear late in the disease, commonly in the second or third decade.


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For all other comments, please send your remarks via contact us. Prognosis Early diagnosis and treatment are crucial to prevent progressive accumulation of cholestanol and cerebrotendonous Bile acid therapies applied to patients suffering from cerebrotendinous xanthomatosis. The brother had slowly progressive ataxia in later years.

The cerebrotenidnous suggested that normolipemic xanthomatosis is a distinct entity inherited as an autosomal recessive and that it should be classified as a reticuloendotheliosis. Eur J Neurol ; The majority had focal lesions xantho,atosis through the cerebrum, cerebellum, brainstem, or basal nuclei.

Residents and Fellows contest rules International Ophthalmologists contest rules. More than patients have been reported worldwide. A mitochondrial cytochrome P that catalyses multiple oxidation reaction in bile acid biosynthesis. He died of myocardial infarction.