Turcot syndrome
Turcot Syndrome
Turcot Syndrome (pronounced: tur-koh sin-drohm) is a rare, inherited condition characterized by the combination of colorectal polyps, which have the potential to become cancerous, and tumors of the central nervous system.
Etymology
The syndrome is named after Canadian surgeon Jacques Turcot, who first described the condition in 1959.
Symptoms
The symptoms of Turcot Syndrome can vary greatly from person to person. However, common symptoms include abdominal pain, rectal bleeding, and neurological symptoms such as seizures, headaches, and changes in personality or behavior.
Causes
Turcot Syndrome is caused by mutations in certain genes, including the MLH1, MSH2, MSH6, PMS2, and APC genes. These genes are involved in repairing mistakes that occur when DNA is copied (DNA replication) in preparation for cell division.
Diagnosis
Diagnosis of Turcot Syndrome is based on a combination of clinical findings, family history, and genetic testing. The presence of multiple colorectal polyps, especially at a young age, along with a family history of colorectal cancer and/or brain tumors, may suggest the diagnosis.
Treatment
Treatment for Turcot Syndrome typically involves managing the symptoms and complications of the condition. This may include surgery to remove polyps or tumors, chemotherapy, radiation therapy, and regular screening for new polyps or tumors.
Prognosis
The prognosis for individuals with Turcot Syndrome can vary greatly depending on the severity of the condition and the individual's response to treatment. However, with early detection and appropriate treatment, many individuals with Turcot Syndrome can live long, productive lives.
See Also
External links
- Medical encyclopedia article on Turcot syndrome
- Wikipedia's article - Turcot syndrome
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