MO242RECTAL ADENOCARCINOMA IN TUBEROUS SCLEROSIS: A CASE REPORT

Abstract

\n \n \n Tuberous sclerosis (TS) is an autosomal dominant genetic disorder that is characterized by a neurocutaneous syndrome. Usually, the disease is diagnosed in childhood but there are frustrates form of tuberous sclerosis with or without genetic mutation.\n \n \n \n This clinical case is about a women with tuberous sclerosis on hemodialysis who is diagnosed a colonic polyposis and a rectal adenocarcinoma.\n \n \n \n We report the case of a 64-year-old patient with no particular family history, followed for renal failure discovered at the end stage with TS. She was treated with intermittent hemodialysis. During his follow-up, she presented melena stools and she reported lightheadedness when standing. Physical examination revealed conjunctival pallor. The patient’s heart rate was normal; her blood pressure was 120/80 mmHg supine and 120/70 mmHg standing. There was no distention or peritoneal irritation. The hemoglobin level was 78 g/L; three weeks previously, it had been stable at 106 g/L. The platelet count, prothrombin time and partial thromboplastin time were all normal. The patient was admitted to hospital. Two units of packed red blood cells were transfused. Gastroscopy was performed and it was normal. Colonoscopy revealed a fixed, circumferential rectal tumor at 6 cm and multiple colorectal polypes. Rectal biopsy confirmed a moderate to poorly differentiated adenocarcinoma of large bowel type. Computed tomography scan showed no metastases. She was operated and actually she is receiving chemotherapy cures.\n \n \n \n In the literature, there is a case of invasive rectal adenocarcinoma in a 17-year-old girl with TS. We do not yet have enough data on the other types of polyps encountered. In the two small series described, the prevalence of colonic polyps is high unlike cancer which could be an isolated event. In view of all these data, it seems judicious to us to carry out a national register of patients with TS and to specify the prevalence of digestive disorders in order to organize a systematic screening if it is high, in the same way as the familial polyposis as well as to confirm or refute the hypothesis of the link between polyposis of TS and colorectal cancer.\n