Because vision loss is often an early sign, Batten disease may be first suspected during an eye exam. An eye doctor can detect a loss of cells within the eye that occurs in the three childhood forms of NCL. However, because such cell loss occurs in other eye diseases, the disorder cannot be diagnosed by this sign alone. Often an eye specialist or other physician who suspects NCL may refer the child to a neurologist, a doctor who specializes in diseases of the brain and nervous system.
In order to diagnose NCL, the neurologist needs the patient's medical history and information from various laboratory tests. Diagnostic tests used for NCLs include:
Blood or Urine Tests
These tests can detect abnormalities that may indicate Batten disease. For example, elevated levels of a chemical called dolichol are found in the urine of many NCL patients.
Skin or Tissue Sampling
The doctor can examine a small piece of tissue under an electron microscope. The powerful magnification of the microscope helps the doctor spot typical NCL deposits. These deposits are common in skin cells, especially those from sweat glands.
Electroencephalogram or EEG
An EEG uses special patches placed on the scalp to record electrical currents inside the brain. This helps doctors see telltale patterns in the brain's electrical activity that suggest a patient has seizures.
Electrical studies of the eyes
These tests, which include visual-evoked responses and electroretinograms, can detect various eye problems common in childhood NCLs.
Imaging can help doctors look for changes in the brain's appearance. A commonly used imaging technique is computed tomography, or CT, which uses x-rays and a computer to create a sophisticated picture of the brain's tissues and structures. A CT scan may reveal brain areas that are decaying in NCL patients. Another imaging technique that is becoming increasingly common is magnetic resonance imaging, or MRI. MRI uses a combination of magnetic fields and radio waves, instead of radiation, to create a picture of the brain.
Measurement of enzyme activity
Measurement of the activity of palmitoyl-protein thioesterase involved in CLN1 and the acid protease involved in CLN2 in white blood cells or cultured skin fibroblasts can be used to confirm these diagnoses.
In families where the mutation in the gene for CLN3 is known, DNA analysis can be used to confirm the diagnosis or for the prenatal diagnosis of this form of Batten disease. When the mutation is known, DNA analysis can also be used to detect unaffected carriers of this condition for genetic counseling.
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