Batten disease is characterized by fatty granular substances, called lipofuscins, that accumulate in nerve cells of the brain and cells of the eyes, skin and other organs, damaging the cells. Vision loss is among the early symptoms of this disease, as are repeat seizures.
Batten can challenging to diagnose because many of its symptoms are not specific to the disease, and patients often are tested or diagnosed with a variety of diseases before a conclusive diagnosis of Batten is reached. In fact, two to three misdiagnoses are reported to be common, and testing could span more than seven years.
For instance, the vision problems that are often the earliest Batten symptom are accompanied by a loss of cells within the eyes — but this also occurs in other eye diseases. Additional tests are necessary.
Skin or tissue sampling
A small biopsy taken from the skin or other tissue and viewed under a microscope can help detect the presence of lipofuscins, also called lipopigments because of their distinctive yellowish-green color. When viewed under a special microscope, the color is evident and the lipofuscins have a distinct shape, with some looking like half-moons and others like fingerprints.
Blood or urine tests
A chemical called dolichol is in the urine of Batten patients at higher than usual levels. Blood tests can detect white blood cells that contain holes or cavities (vacuolated lymphocytes) in people with juvenile forms of this disease.
Measurement of enzyme activity
Batten disease is caused by mutations in genes that encode for lysosomal proteins. Lysosomes are compartments in the cell that degrade cell part that no longer work or are damaged. Many of these lysosomal proteins are enzymes, which perform biochemical reactions that can easily be measured in a laboratory. Batten may be indicated when these these enzymes are absent or at unusually low levels.
Electrical studies of the eyes
The measurement of electrical signals that are generated in the visual processing center of the brain can help detect eye problems that are typical of Batten disease.
An electroencephalogram (EEG) uses patches that are placed on the scalp to record the electrical signals from the brain. Specific patterns of electrical activity are a sign of seizures, a sign of juvenile Batten disease.
Because Batten disease is caused by genetic mutations, it can be diagnosed through genetic testing. One difficulty, however, is that mutations in eight different genes have been reported in Batten disease, and within these genes, many different mutations can occur. Genetic testing, for this reason, is an easier route in families where the CLN3 gene mutation is known.
A freely available NCL mutation database has been developed, which stores information about all mutations currently associated with Batten disease. Diagnostic algorithms, which are continuously updated, can help other families in attaining a definitive Batten diagnosis.
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