Cerebrotendineous xanthomatosis
Cerebrotendineous Xanthomatosis
Cerebrotendineous xanthomatosis (pronounced as: ser-eb-ro-ten-din-e-ous zan-tho-ma-to-sis) is a rare inherited disorder characterized by the abnormal storage of fats (lipids) in many areas of the body.
Etymology
The term "Cerebrotendineous Xanthomatosis" is derived from the Greek words "kerebro" meaning brain, "tendinos" meaning tendon, and "xanthoma" meaning yellow tumor. This is due to the accumulation of cholesterol and cholestanol in the brain, tendons, and other tissues, leading to the formation of yellowish tumors.
Symptoms
Symptoms of Cerebrotendineous Xanthomatosis typically begin in early childhood and may include chronic diarrhea, cataracts, tendon xanthomas, and progressive neurological dysfunction.
Diagnosis
Diagnosis of Cerebrotendineous Xanthomatosis is typically made through a combination of clinical examination, imaging studies, and genetic testing.
Treatment
Treatment for Cerebrotendineous Xanthomatosis typically involves medication to reduce the levels of cholesterol and cholestanol in the body, along with supportive therapies to manage symptoms.
Related Terms
- Lipid Metabolism Disorders
- Cholesterol
- Cholestanol
- Genetic Testing
- Tendon Xanthomas
- Cataracts
- Neurological Dysfunction
External links
- Medical encyclopedia article on Cerebrotendineous xanthomatosis
- Wikipedia's article - Cerebrotendineous xanthomatosis
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