Cerebrotendinous xanthomatosis

Symptoms

What are the main symptoms of cerebrotendinous xanthomatosis?

Cerebrotendinous xanthomatosis can cause lots of different symptoms. It can cause different symptoms in different people. The severity of those symptoms can be different as well. Every person with this disorder is unique and how the disorder develops and progresses in each person will be unique as well. Certain symptoms are more likely to occur during specific age ranges. Some symptoms will develop gradually during life. Some symptoms are common; others occur far less often. Common symptoms include diarrhea, cataracts, non-cancerous (benign) fatty tumors called xanthomas in the tendons, and progressive neurological problems.

Diarrhea occurs in infancy or early childhood and can be resistant to treatment. This may be called intractable diarrhea. Infants may have repeated episodes of diarrhea, as many as 10-12 episodes a day. Cataracts are common and usually form within the first 10 years of life. Cataracts may be the first symptom seen in some people. Some children will have cholestasis, a condition in which the flow of bile from the liver is stopped or slowed down. Cholestasis can be mild and resolve on its own. Some people with mild cholestasis will go on to develop more symptoms of cerebrotendinous xanthomatosis later on in life. Cholestasis can also be more serious and can cause yellowing of the skin, mucous membranes, and eyes (jaundice) and affect how a child grows and gains weight.

Xanthomas are a common symptoms. They form in the tendons, the flexible connective tissue that connects muscles to bone. They are most likely to form in the Achilles tendon and tendons in the hands, elbows, knees, and neck. Xanthomas usually develop in teenagers or young adults. Sometimes, they grow slowly larger over time.

If the disorder is unrecognized and untreated, a subtle decline in mental function may occur. This usually happens around puberty, but can begin earlier in some children. This can lead to intellectual disability and learning disabilities. Some people do not develop neurological symptoms until adulthood. In adults, the range of these problems is very broad. Some people do not develop any neurological issues. Others can develop seizures, problems with coordination, increased muscle tone and stiffness, involuntary muscle contractions that force the body into painful or awkward positions (dystonia), and symptoms that resemble Parkinson disease. Changes in person's behavior can also be seen. People can show agitation, aggression, depression, attention deficit hyperactivity disorder, and hallucinations. Some people develop dementia, sometimes as early as in their 20s. The neurological and psychiatric problems in cerebrotendinous xanthomatosis can vary greatly from one person to another.

Some people have cardiovascular disease including atherosclerosis, or hardening of the arteries. Osteoporosis and repeated bone fractures are also common.

Federico A, Dotti MT, Gahl W. Cerebrotendinous Xanthomatosis. GeneReviews website. http://www.ncbi.nlm.nih.gov/books/NBK1409/ Updated August 1, 2013. Accessed April 10, 2016.

Cerebrotendinous Xanthomatosis. National Organization for Rare Disorders website. http://rarediseases.org/rare-diseases/cerebrotendinous-xanthomatosis/. Updated 2014. Accessed April 10, 2016.

Berginer VM, Salen G, Patel SB. Cerebrotendinous Xanthomatosis. In: Rosenberg RN, Pascual JM, eds. Rosenberg's Molecular and Genetic Basis of Neurological and Psychiatric Disease. 5th edition. Philadelphia, PA:Elsevier, Inc.;2015.

Nie S, Chen G, Cao X, Zhang Y. Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management. Orphanet J Rare Dis. 2014 Nov 26;9:179.

Fraidakis MJ. Psychiatric manifestations in cerebrotendinous xanthomatosis. Transl Psychiatry. 2013;3;3:e302.

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