Turcot syndrome

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

　　1. Recessive inheritance theory

　　Based on the family reported by Turcot and Baughman, Ito studied 6 families and found that all families were同胞内发生, and neither of the parents had polyps or brain tumors; both males and females can be affected, with a ratio of 6:8; there is a history of consanguineous marriage.

　　2. Dominant inheritance theory

　　It is believed that this syndrome is similar to Cardner syndrome and is one of the subtypes of familial adenomatous polyposis, the basis being that this syndrome often occurs within the family of familial adenomatous polyposis.

　　Diseases that Turcot syndrome can cause include intestinal obstruction, neural tube embryonic tissue tumors, glioblastoma, brain tumors, and other severe diseases, which seriously endanger the health of patients, so timely treatment is definitely necessary.

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

　　One. Symptoms

　　Symptoms before malignancy are often not obvious, and irregular abdominal pain, diarrhea, hematochezia, or mucous purulent stools caused by colorectal polyps may first appear; symptoms caused by glioma may also be seen first, such as abdominal pain, diplopia, visual impairment, and disturbance of motor consciousness, etc.

　　Two. Signs

　　1. Colorectal polyps. There are about 100 polyps (200-1000 in familial adenomatous polyposis); scattered throughout the entire colon, with large volume; high rate of malignancy and young age (before 20 years old).

　　2, Central 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 associated with pituitary adenomas, malignant lymphomas, and others.

　　3, Associated lesions. Can 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 rarely seen in clinical practice, belonging to an autosomal recessive genetic disease. The possibility of malignant transformation in this disease is very high. Eugenics and birth control 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 practical clinical value for the diagnosis of colon adenomas or other parts of the gastrointestinal tract tumors. CT, MRI, and cerebral angiography can help in the early detection of nervous system tumors.

　　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; mainly consume high-calorie, high-protein, high-vitamin, moderate-fat, non-irritating, soft and easy-to-digest foods rich in nutrition. Do not eat too much, eat to 80% of fullness, eat more meals, and chew slowly while eating. Pay attention to the temperature and amount of food intake to prevent overheating.

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

　　The main treatment for this disease is surgery. The adenomatous polyps of the colon in this disease have a high rate of malignant transformation. Once diagnosed, immediate simple polypectomy or early colon resection should be performed, and regular colonoscopy should be performed after surgery. For multiple tumors that are difficult to remove by surgery, medication and radiotherapy have certain effects.

　　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 nervous system tumor cannot be completely removed, and the patient has died of brain tumor before the colorectal polyp becomes cancerous.