Rare Signs and Symptoms

These symptoms and signs or Gorlin syndrome are rare. Fewer than 14% of all people with Gorlin syndrome experience these health issues.

Cardiac fibromas

Cardiac Fibroma Gorlin Syndrome

Cardiac fibromas are benign tumors found in the heart of people with Gorlin syndrome

Cardiac fibromas are benign (non-cancerous) tumors of the heart made up of connective tissues. These tumors usually occur in infants and children.

Symptoms of cardiac fibromas depend on the size and location of the tumor. Symptoms may include irregular heartbeat, heart murmurs, bluish skin, fainting and dizziness.

Cardiac fibromas may be diagnosed with an MRI or CT scan, sonogram and/or a tissue biopsy. Cardiac fibromas are treated with careful monitoring by a cardiologist and possible surgery by a cardiothoracic surgeon. Not all individuals with cardiac fibromas require immediate surgery. In very extreme cases, a heart transplant operation may be required.

Lymphomesenteric cysts

Lymphomesenteric cysts are benign (non-cancerous) tumors of the abdomen that can cause belly pain, and bowel blockage when large or widespread. These cysts are made up mostly of the fluid from the lymph system.

If abdominal pain develops, seek care. The extent of the condition may be diagnosed by ultrasound, MRI or CT scan. Treatment for advanced or widespread lymphomesenteric cysts is surgery to remove the blockage.

Medulloblastoma

medullablastoma and gorlin syndrome

Medullablastoma can develop in the first two years of life for children with Gorlin syndrome. Image credit: cancer.gov

Medulloblastoma is a malignant (cancerous) brain tumor that grows quickly. It is seen most often in children younger than 8 years. In those with Gorlin syndrome, medulloblastoma may develop in the first two years. More boys with Gorlin syndrome develop this tumor than girls.

Symptoms of medulloblastoma include headache, vomiting, nausea, sleepiness, and difficulty with coordination. There could be changes in behavior, appetite, as well as unusual eye movements.

The diagnosis is made by CT scan or MRI of the brain. Once diagnosed, the child should be seen by a neurosurgeon and possibly an oncologist as soon as possible. Depending on the location of the medulloblastoma, survival rate for this cancer is up to 80%.

Treatment options for medulloblastoma include surgery, radiation and/or chemotherapy. When discussing treatment options, it is important to recognize that the use of radiation therapy may induce the growth of multiple basal cell carcinomas in patients with Gorlin syndrome. The risks and benefits of each treatment option should be carefully considered by the child’s entire care team.

Learn more about medullablastoma.

Meningioma

Meningiomas are generally slow growing, benign (non-cancerous) brain tumors that come from the covering of the brain and spinal cord. They do not grow from the brain tissue itself.

Symptoms of meningiomas vary depending on the location of the tumor. Symptoms may include headache, weakness of an arm or leg. Less common signs include personality changes, seizures, and vision problems.

Meningioma is diagnosed by a CT scan or MRI of the brain and typically managed by a neurosurgeon.

Ocular hypertelorism

Ocular hypertelorism is a wide distance between the eye sockets, resulting in “wide-set” appearing eyes. Occasionally, hypertelorism can cause visual problems, but usually this is not the case. Severe cases of ocular hypertelorism are treated in childhood with surgery.

hypertelorism and gorlin syndrome

Hypertelorism results in the appearance of wide-set eyes