Turcot's syndrome presenting as an acute abdomen in a teenag
Now open: Certificate Course in Management of Covid-19 by Govt. Of Gujarat and PlexusMDKnow more...Now open: Certificate Course in Management of Covid-19 by Govt. Of Gujarat and PlexusMDKnow more...
Turcot syndrome is a rare hereditary syndrome characterized with the clinical association of colorectal polyposis and brain tumors. Usually the time interval between either the colorectal polyposis or brain tumors presentation is about 5 years in most situation.

A 17-year-old male presented to the emergency department with severe generalized abdominal pain for 2 days. The pain shifted to the right iliac fossa and associated with distension, vomiting, anorexia and diarrhea without blood or mucus. At the age of 4 years he underwent craniotomy & excision of left occipito-parieto temporal Glioblastoma with post operative radiotherapy.

7 year later, he had two masses over the left shoulder & back of the neck 5 × 4cm and 3 × 2cm respectively. Histopathology of the lesions showed aggregate of shadow cells, basaloid cells, extensive calcification and giant cell reaction consistent with Pilomatrixoma. He was not screened for associated colonic pathology as he was not suspected to have a Turcot syndrome at that time. Parents gave family history of malignancies, as one of his cousins died at age of 11 years with leukemia and another cousin died at age of 14 with Glioblastoma.

Abdomen was rigid with negative bowel sound. Patient underwent exploratory laparotomy which showed perforated sigmoid mass obstructing lumen in addition to colonic mass proximal to the transverse colon. Total colectomy and ileostomy was done. Histopathology revealed two Colonic moderately-differentiated adenocarcinoma (Grade II) at the sigmoid and transverse colon with positive lymph nodes. It also showed multiple adenomatous polyps with mild to moderate dysplasia.

Patient underwent abdominoperineal resection and received 6 cycles Chemotherapy leucovorin and 5-fluorouracil. Follow up CT showed significant ascites and three circumferential peritoneal masses suspecting LN and peritoneal seeding.

Read more here: https://pxmd.co/kx3g9
1 share