Turcot syndrome

Symptoms

Are there symptoms other than cancer associated with Turcot syndrome?

Aside from cancer, Turcot syndrome is characterized by the formation of multiple benign growths (polyps) in the colon that occur in association with a primary brain tumor. These growths are associated with bleeding from the rectum, diarrhea, constipation, abdominal pain, and/or weight loss. The number and size of these polyps may vary greatly from case to case, ranging from fewer than 10 to more than 100.

Additional non-cancerous symptoms associated with Turcot syndrome include small, coffee-colored spots on the skin (cafe-au-lait spots), the formation of multiple, benign fatty tumors (lipomas), and/or the development of a type of skin cancer known as basal cell carcinoma. Basal cell carcinoma is characterized by the formation of small, shiny, firm masses of tissues (nodules); flat, scar-like lesions (plaques); or red patches covered by thick, dry, silvery scales on the skin.

The following list includes other symptoms of Turcot syndrome and the percentage of patients that experience them. Many of these symptoms are a direct result of a diagnosis of colon polyps/cancer or brain tumors, rather than a symptom of Turcot syndrome itself.

  • Abdominal pain (90%)
  • Constipation (90%)
  • Gastrointestinal hemorrhage (bleeding) (90%)
  • Glioma- type of brain tumor (90%)
  • Malabsorption- inability to absorb nutrients (90%)
  • Neoplasm (benign or cancerous growth) of the colon (90%)
  • Weight loss (90%)
  • Attention deficit hyperactivity disorder (50%)
  • Hypertonia- increase in muscle tension and a reduced ability of a muscle to stretch (50%)
  • Increased intracranial pressure- pressure inside of the skull (50%)
  • Migraine (50%)
  • Muscular hypotonia-low muscle tone (50%)
  • Nausea and vomiting (50%)
  • Neoplasm of the rectum (50%)
  • Seizures (50%)
  • Abnormal pyramidal signs- plantar extension and hyperreflexia (7.5%)
  • Agnosia-inability to interpret sensations (7.5%)
  • Amaurosis fugax- temporary vision loss (7.5%)
  • Benign neoplasm of the central nervous system (7.5%)
  • Developmental regression (7.5%)
  • Flexion contracture- inability to fully straighten joing (7.5%)
  • Gait (walking) disturbance (7.5%)
  • Hallucinations (7.5%)
  • Hemiplegia/hemiparesis- weakness of one side of the body (7.5%)
  • Intestinal polyposis (7.5%)
  • Memory impairment (7.5%)
  • Neoplasm of the liver (7.5%)
  • Neoplasm of the pancreas (7.5%)
  • Neoplasm of the skeletal system (7.5%)
  • Neoplasm of the skin (7.5%)
  • Neoplasm of the thyroid gland (7.5%)
  • Neuroblastoma- type of brain tumor (7.5%)
  • Neurological speech impairment (7.5%)
  • Ovarian neoplasm (7.5%)
  • Paresthesia- an abnormal sensation, typically tingling or pricking (7.5%)
  • Sarcoma- tumor of connective tissue (7.5%)
  • Urinary tract neoplasm (7.5%)
  • Uterine neoplasm (7.5%)
  • Visual field defect- loss of part of usual field of vision (7.5%)
  • Visual impairment (7.5%)
  • Agenesis of corpus callosum- partial or complete absence of an area of the brain that connects the two cerebral hemispheres (5%)

https://rarediseases.info.nih.gov/gard/420/turcot-syndrome/resources/9

http://rarediseases.org/rare-diseases/turcot-syndrome/

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