What tests are used to diagnose neuronal ceroid lipofuscinosis (NCL)?
• Electroencephalography (EEG): A neurologist can diagnose epilepsy by looking at the electrical patterns of the brain by placing electrodes on the scalp.
• Magnetic resonance imaging (MRI): Images may show characteristic changes in the brain.
• Electroretinography (ERG): An ophthalmologist may evaluate the electrical signals of the retina at the back of the eye in response to light.
• Skin biopsy: A doctor can obtain a small piece of skin that can be reviewed under the microscope for characteristic changes associated with NCL.
• Genetic testing: A blood test can be done to look for genetic changes in any or all of the genes that are associated with NCL.
Why choose Children’s Hospital Colorado for diagnostic NCL (Batten disease) testing?
Children’s Colorado has multidisciplinary clinics that specialize in diagnosis and management of rare diseases. We're the only hospital in the region with all of the pediatric specialists under one roof that are needed to accurately diagnose patients with NCL.
What should I expect from NCL diagnostic tests?
• EEG involves placing electrodes on the scalp using gel. It’s a noninvasive test that may be done in an hour or may require staying in the hospital overnight if a longer reading is needed.
• MRI is often performed using sedation for younger children because it requires lying still in the scanner for 30 to 60 minutes. Results of the test are typically available the next day.
• ERG is performed in the operating room by an ophthalmologist and often requires anesthesia. It can be done as an outpatient procedure that does not require hospital admission, and performed at the same time as MRI or other procedures that require anesthesia.
• Skin biopsy can be performed in the clinic using local anesthesia (numbing a specific part of the body).
• Genetic testing is done with a blood sample obtained by a pediatric phlebotomist (an expert who draws blood) at Children's Hospital Colorado. Results usually take about one month.
How do providers at Children’s Hospital Colorado diagnose NCL?
Providers from specialties such as neurology, ophthalmology, developmental pediatrics and genetics collaborate to review diagnostic test results and arrive at an accurate diagnosis.