Diagnosis of Neurocutaneous Syndromes in Children
The healthcare provider will ask about your child’s symptoms, health history, and developmental milestones. He or she may also ask about your family’s health history. He or she will give your child a physical exam. Your child may also have tests, such as:

Genetic tests. These are blood tests. They check for health conditions that tend to run in families.

MRI. This test uses large magnets, radio waves, and a computer to make images of the inside of the body.

CT scan. This test uses a series of X-rays and a computer to create images of the inside of the body. A CT scan shows more detail than a regular X-ray.

Electroencephalogram (EEG). This test records the brain's electrical activity through sticky pads (electrodes) attached to the scalp.

Eye exam. This is done to check for growths on the retina and excess pressure in the eye.

Biopsy. A small sample of tissue from a tumor or skin lesion may be taken. This is checked with a microscope.