<unk>  is rare; misdiagnosis may lead to increased medical expenses, family stress, and the chance of using incorrect forms of treatment, which may exacerbate the patient's condition. Nevertheless,<unk>  can be diagnosed if properly detected. Vision impairment is the most common observable symptom of the<unk> . Occurrences in children are more prevalent than occurrences in adolescents or adults. Children or adults suspected of having<unk>  should initially see an optometrist or ophthalmologist. A fundus eye examination that aids in the detection of common vision impairment abnormalities, such as granularity of the retinal pigment epithelium in the central macula will be performed. Though it is also seen in a variety of other<unk> s, a loss of ocular cells is a warning sign of<unk> . If<unk>  is the suspected diagnosis, a variety of tests is conducted to help accurately confirm the diagnosis, including: * Blood or urine tests can help detect abnormalities that may indicate<unk> . For example, elevated levels of Dolichol in urine have been found in many individuals with NCL. The presence of vacuolated lymphocytes—white blood cells that contain holes or cavities (observed by microscopic analysis of blood smears)—when combined with other findings that indicate NCL, is suggestive for the juvenile form caused by CLN3 mutations. * Skin or tissue sampling is performed by extracting a small piece of tissue, which then is examined under an electron microscope. This can allow physicians to detect typical NCL deposits. These deposits are common in tissues such as skin, muscle, conjunctiva, and rectum. This diagnostic technique is useful, but other invasive tests are more reliable for diagnosing<unk> . * Electroencephalogram (EEG) is a technique that uses special probes attached on to the individual's scalp. It records electrical currents/signals, which allow medical experts to analyze electrical pattern activity in the brain. EEG assists in observing if the patient has seizures. * Electrical studies of the eyes are used, because as mentioned, vision loss is the most common characteristic of<unk> . Visual-evoked responses and electroretinograms are effective tests for detecting various eye conditions common in childhood NCLs. * Computed tomography (CT) or magnetic resonance imaging (MRI) are diagnostic imaging tests that allow physicians to better visualize the appearance of the brain. MRI imaging test uses magnetic fields and radio waves to help create images of the brain. CT scan uses x-rays and computers to create a detailed image of the brain's tissues and structures. Both diagnostic imaging tests can help reveal brain areas that are decaying, or atrophic, in persons with NCL. * Measurement of enzyme activity specific to<unk>  may help confirm certain diagnoses caused by different mutations. Elevated levels of palmitoyl-protein thioesterase is involved in CLN1. Acid protease is involved in CLN2. Cathepsin D is involved in CLN10. * DNA analysis can be used to help confirm the diagnosis of<unk> . When the mutation is known, DNA analysis can also be used to detect unaffected carriers of this condition for genetic counseling. If a family mutation has not previously been identified or if the common mutations are not present, recent molecular advances have made it possible to sequence all of the known NCL genes, increasing the chances of finding the responsible mutation(s).
Batten disease
Keshan disease
Akureyri disease
Krabbe disease
Farber disease
Karak syndrome
Sandhoff disease
Menkes disease