Turcot syndrome

　　Turcot syndrome is a genetic disease. Due to the small number of cases, a high proportion of sporadic cases, and most patients dying before marriage, valuable information cannot be obtained from their descendants, so there is no consensus on its genetic pattern at present, mainly including2theories.

　　1, recessive inheritance theory

　　Based on the family reported by Turcot and Baughman, Ito studied6After discovering a family, all the families were found to have siblings with the disease, and neither parent had polyps or brain tumors; both males and females can be affected, with a ratio of6:8; with a history of consanguineous marriage.

　　2, dominant inheritance theory

　　It is believed that this syndrome is similar to the Cardner syndrome and is a part of familial adenomatous polyposis1There is a subtype, which is based on the fact that this syndrome often occurs within families with familial adenomatous polyposis.

　　Turcot syndrome can cause serious diseases such as intestinal obstruction, neural tube embryonic tissue tumors, glioblastoma, and brain tumors, which severely harm the health of patients, so it is necessary to treat it in a timely manner.

　　What are the symptoms of Turcot syndrome? Briefly described as follows:

　　1. Symptoms

　　The symptoms before canceration are often not obvious, and may first appear as irregular abdominal pain, diarrhea, hematochezia, or mucopurulent stool caused by colorectal polyps; it can also manifest as symptoms caused by glioma cells, such as abdominal pain, diplopia, visual impairment, and motor consciousness disorders.

　　Second, signs

　　1, colon polyps. The number of polyps is10Approximately 0 cases (familial colon adenomatosis is200～10(00 cases); scattered in the entire colon, with large volume; high incidence of malignancy and younger age (2(Before 0 years old).

　　2Central nervous system tumors. Commonly occur in the cerebral hemispheres, also occur in the cerebellum, brainstem, and spinal cord. There are also reports that this syndrome can be accompanied by pituitary adenomas, malignant lymphomas, etc.

　　3Accompanying lesions. May be accompanied by tumors of the stomach, duodenum, small intestine, lipomas, thyroid cancer, ovarian cysts, etc., and coffee milk spots and other skin abnormalities are common on the skin.

　　Turcot syndrome is a rare autosomal recessive genetic disease in clinical practice, and the possibility of malignancy is very high. Eugenics and eugenics are the most important preventive measures for this disease.

　　What examinations should be done for Turcot syndrome? Briefly described as follows:

　　Barium enema, barium meal X-ray contrast, and endoscopic examination have actual clinical value for the diagnosis of colon adenomas or other tumor sites in the gastrointestinal tract. CT, MRI, and cerebral angiography can help to detect neurologic tumors early.

　　What should be paid attention to in the diet of Turcot syndrome patients? Briefly described as follows:

　　Patients with Turcot syndrome should abstain from smoking, drinking, strong tea, and coffee; eat foods rich in nutrition with high calories, high protein, high vitamins, moderate fat, non-irritating, soft and easy to digest, as the main food. Avoid overeating, and eat to the point of eight parts full. Eat small meals more often, and chew food slowly while eating. Pay attention to the temperature and amount of food, and prevent overheating.

　　What are the treatment methods for Turcot syndrome? Briefly described as follows:

　　This disease is mainly treated by surgery. The adenomatous polyps of the colon in this disease have a high rate of malignancy, and once diagnosed, simple polypectomy or early colon resection should be performed, and colonoscopy should be performed regularly after surgery. For multiple tumors that are difficult to remove by surgery, drugs and radiotherapy have a certain effect.

　　The prognosis of this disease is poor, and most cases die within a few years after diagnosis. The reason is that in most cases, the neurologic tumor cannot be completely removed, and the patient has died of brain tumor before the colon polyp becomes cancerous.