What is Turcot Syndrome?
Turcot Syndrome is an extremely rare inherited pathological condition which is characterize by development of numerous adenomatous polyps along the mucous liner of the gastrointestinal tract . These polyps are benignant . In some cases there may also be growth of tumors within the skittish system .
As a event of these polyps , the affected someone may experience legion gastrointestinal symptom likediarrhea , rectal haemorrhage , lethargy and pertinacious fatigue , pain in the abdominal area and unintentionalweight loss . If the nervous scheme is also involve with a tumour present in the brain then the moved individual may also go through sure neurological symptoms along with persistentheadache .
sketch have suggested that Turcot Syndrome is nothing but a form of Familial Adenomatous Polyposis . What exactly make these polypus to develop is something which is still a matter of study and is not known . The treatment for the most part is surgical for majority of cases of Turcot Syndrome .
What are the Causes of Turcot Syndrome?
As state the precise lawsuit of Turcot Syndrome is not known . According to studies , Turcot Syndrome has been divided into two parting which are Type I and Type II . This division is ground on the number of polyp present .
If the polyps are few and less than 100 then it flow in Type I Turcot Syndrome whereas if the number of polyp is greater than 100 then it falls in Type II of Turcot Syndrome .
Studies also evoke that Type I of Turcot Syndrome follow an autosomal recessionary pattern of hereditary pattern whereas Type II of Turcot Syndrome follow an autosomal predominant pattern of heritage .
The gene responsible for Type I Turcot Syndrome is the MLH1 and PMS2 gene . The social occasion of these factor is to repair damaged DNA . Type II Turcot Syndrome is triggered by the mutations in the APC factor . The function of this cistron is to oppress tumor progression and mutation in this gene results in tumor progression see with Turcot Syndrome .
What are the Symptoms of Turcot Syndrome?
The Hellenic presenting feature of Turcot Syndrome is the presence of legion polypus along the mucosal lining of the gastrointestinal piece of ground . It is sometimes associate with a tumor in the brain .
As a resultant role of these polyp , the touched case-by-case experience rectal hemorrhage , alternating diarrhea and constipation . Pain in the abdomen is yet another symptom along with unintentional weight personnel casualty for Turcot Syndrome .
Type I Turcot Syndrome has less than 100 polyps present where as if the bit of polyp is greater than 100 then it light into type II of Turcot Syndrome .
The size of the polypus in type I Turcot Syndrome is far more than those in case II Turcot Syndrome and hence the chances of these polyp becoming malignant are more in Turcot Syndrome .
How is Turcot Syndrome Diagnosed?
To substantiate a diagnosis of Turcot Syndrome the treating physician will first take a detailed chronicle of the patient role inquiring about the symptom and the duration and rigorousness of it .
A detailed abdominal examination is then take along with radiological prototype of the gastrointestinal tract which will clearly show the comportment of polyps and confirm the diagnosing of Turcot Syndrome .
In case if an individual has a know diagnosis of Turcot Syndrome then the chances of his or her fry also train this precondition is quite high and thus it is extremely recommended that such fry undergo routine screenings through sigmoidoscopy to substantiate the presence of any polyps for an former sensing of the maturation of Turcot Syndrome .
Genetic testing will then be done which will understandably show variation in the genes responsible for get this condition and thus confirm the diagnosing of Turcot Syndrome . Additionally , diagnostic testing in the phase of colonoscopy and rectal tissue biopsy is also quite helpful in confirming the diagnosis of Turcot Syndrome .
How is Turcot Syndrome Treated?
The treatment of Turcot Syndrome is essentially diagnostic . Surgically dispatch the large intestine and the rectum may prevent the risk of the polypus bewilder malignant . This is highly advocate for patients with Type I of Turcot Syndrome .
There is yet another procedure in which the bombastic gut is removed and the rectum is confiscate to the small bowel . This approach towards treatment has been shown to be more strong and final result in pregnant regression of rectal polyps formed due to Turcot Syndrome . Hence , this strain of treatment is highly recommended by health care professionals but after the procedure the patient must be sieve routinely through flexible sigmoidoscopy for development of any new polyp and if present then quick correction of it so as to do by the patient with Turcot Syndrome .
In cases where the number of polyp is far more and their development is rapid then the rectum may have to be removed and the minuscule intestine may be connect to the abdominal paries . This procedure is predict as ileostomy and is also quite a serious substitute treatment for Turcot Syndrome .
periodical neurological screenings is also recommended for individuals with Turcot Syndrome to check for front of any head tumor and if discover treatment should be start out for it as well .
Brain tumormay require surgery for remotion of the tumor depending on the location and size of the tumor . This is a complex surgical operation as the tumour ask to be removed as much as possible without causing any impairment to the fence in structures . The surgery will then be followed by actinotherapy and chemotherapy to complete the treatment for Einstein tumor cause by Turcot Syndrome .
