Turcot Syndrome
Turcot Syndrome Causes
The disease is inherited in an autosomal recessive manner with both parents carrying a Turcot gene and a 1 in 4 risk for each of their boys and girls of receiving both parental Turcot genes and suffering from the syndrome.
Turcot Syndrome Definition
A genetic disease characterized by polyps in the colon in additions to tumors in the brain, Turcot syndrome is the association between familial adenomatous polyposis or hereditary nonpolyposis colorectal cancer. The first reported case was done by Canadian surgeon Jacques Turcot, hence, the name. Turcot syndrome is inherited in an autosomal recessive manner with both parents carrying a Turcot gene and a 1 in 4 risk for each of their boys and girls of receiving both parental Turcot genes and suffering from the syndrome.
Turcot Syndrome Diagnosis
Physical exams can often identify signs and symptoms that are specific to the location of the tumor. However, there are tumors that may not cause symptoms therefore; tests are performed. Among those are CT scan of the head, MRI, EEG, CT-guided bipsy, and examination of the cerebral spinal fluid or CSF.
Turcot Syndrome Symptoms and Signs
Some symptoms of the syndrome include headache, vomiting, nausea, personality and behavior changes, mood swings, loss of memory, seizures, reduced alertness, vision problems, hearing loss, decreased sensation of a body area, lethargy, general ill feeling, decerebrate posture, and decorticate posture.
Turcot Syndrome Treatment
Treating the disease early improves the chance of a good outcome. The goals however, vary. It could be to cure the tumor, relieve symptoms, and improve brain function or the child's comfort. For most primary brain tumors, surgery is necessary and some tumors may be completely removed. Radiation therapy and chemotherapy may also be performed. Among children, corticosteroids such as dexamethasone may be used to reduce brain swelling.