Cerebrotendinous Xanthomatosis (CTX)
Xanthomas is a term describing the presence of yellowish fatty tumours on the tendons, which is a specific finding in the diagnosis of Cerebrotendinous Xanthomatosis. Most often found in the Achilles tendon, this revealing attribute tends to be missed unless specifically looked for. Patients with CTX may present first with cataracts or with mild mental retardation. Later on, patients may develop seizures, emotional or psychiatric disturbances, and motor deficits. CTX has an autosomal recessive pattern of inheritance.
CTX is usually diagnosed by measuring the levels of bile alcohols in blood or urine, or of a substance called cholestanol in the blood. Cholestanol resembles cholesterol chemically, but can be distinguished from it by special chemical tests.
The biochemical basis of CTX is complex, but advances are beginning to be made toward understanding it. Diagnosis of the illness is important, since it is by far the most treatable of the leukodystrophies. Much encouragement has been gained through the observation that certain bile acids, administered orally, can prevent further progression of the illness, and may even bring about improvement.
There is a very favourable response to chenodeoxycholic acid, a medication that can be taken by mouth.
Further information can be obtained from:
Cerebrotendinous Xanthomatosis (CTX) [external]