CEREBROTENDINOUS XANTHOMATOSIS PDF

See Molecular Genetics for information on allelic variants detected in this gene. Sequence analysis detects variants that are benign, likely benign, of uncertain significance , likely pathogenic, or pathogenic. For issues to consider in interpretation of sequence analysis results, click here. Methods used may include: quantitative PCR , long-range PCR, multiplex ligation-dependent probe amplification MLPA , and a gene -targeted microarray designed to detect single- exon deletions or duplications.

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Cerebrotendinous Xanthomatosis. Chronic diarrhea from infancy may be the earliest clinical manifestation. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent.

Pyramidal signs i. The biochemical abnormalities that distinguish CTX from other conditions with xanthomas include high plasma and tissue cholestanol concentration, normal-to-low plasma cholesterol concentration, decreased chenodeoxycholic acid, increased concentration of bile alcohols and their glyconjugates, and increased concentrations of cholestanol and apolipoprotein B in cerebrospinal fluid.

Inhibitors of HMG-CoA reductase alone or in combination with CDCA are also effective in decreasing cholestanol concentration and improving clinical signs; however, they may induce muscle damage. Coenzyme Q10 treatment may improve muscle weakness. Cataract extraction is typically required in at least one eye by age 50 years.

Epilepsy, spasticity, and parkinsonism are treated symptomatically. Prevention of primary manifestations: Early treatment with CDCA in presymptomatic individuals appears to prevent clinical manifestations. Prevention of secondary complications: Calcium and vitamin D supplementation improve osteoporosis.

Surveillance: Annual neurologic and neuropsychological evaluation, cholestanol plasma concentration, brain MRI, echocardiogram, and assessment of total body density TBD. Evaluation of relatives at risk: Early diagnosis by biochemical testing or molecular genetic testing if the two pathogenic variants in the family are known allows for early treatment that may prevent or limit disease manifestations.

Pregnancy management: Treatment with chenodeoxycholic acid should not be interrupted during pregnancy. Carrier testing for at-risk family members and prenatal testing for pregnancies at increased risk are possible if both CYP27A1 pathogenic variants in the family are known.

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Cerebrotendineous xanthomatosis

Cerebrotendinous Xanthomatosis. Chronic diarrhea from infancy may be the earliest clinical manifestation. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent.

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Cerebrotendinous xanthomatosis - A case report

Description Cerebrotendinous xanthomatosis is a disorder characterized by abnormal storage of fats lipids in many areas of the body. People with this disorder cannot break down certain lipids effectively, specifically different forms of cholesterol, so these fats accumulate in the body in the form of fatty yellow nodules called xanthomas. These xanthomas are most commonly found in the brain and in connective tissue called tendons that attach muscle to bone, which is reflected in the condition name cerebro- meaning brain and -tendinous referring to tendons. People with cerebrotendinous xanthomatosis often develop neurological problems in early adulthood that are thought to be caused by an abnormal accumulation of fats and an increasing number of xanthomas in the brain. These neurological problems include recurrent seizures epilepsy , movement disorders, impaired speech dysarthria , loss of sensation in the arms and legs peripheral neuropathy , decline in intellectual function dementia , hallucinations, and depression. Xanthomas can accumulate in the fatty substance that insulates and protects nerves myelin , causing the destruction of myelin and disrupting nerve signaling in the brain.

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