Neurocutaneous Syndromes - Diagnosis
How are neurocutaneous syndromes diagnosed?
Tuberous sclerosis, NF, and Sturge-Weber disease are congenital (present at birth). The diagnosis is made with a physical examination and diagnostic tests. During the examination, the physician obtains a complete medical history and asks if other family members are known to have any of these conditions. In babies and children, the physician will also ask about developmental milestones, since these disorders can be associated with other neurological problems and may require further medical follow-up.
Diagnostic tests may include:
- blood tests
- genetic testing - diagnostic tests that evaluate for conditions that have a tendency to run in families.
- x-ray - a diagnostic test that uses invisible electromagnetic energy beams to produce images of internal tissues, bones, and organs onto film.
- magnetic resonance imaging (MRI) - a diagnostic procedure that uses a combination of large magnets, radiofrequencies, and a computer to produce detailed images of organs and structures within the body.
- computed tomography scan (Also called a CT or CAT scan.) - a diagnostic imaging procedure that uses a combination of x-rays and computer technology to produce cross-sectional images (often called slices), both horizontally and vertically, of the body. A CT scan shows detailed images of any part of the body, including the bones, muscles, fat, and organs. CT scans are more detailed than general x-rays.
- electroencephalogram (EEG) - a procedure that records the brain's continuous, electrical activity by means of electrodes attached to the scalp.
- eye examination
- tissue sample of the tumor or skin lesion