What is Neuronal Ceroid Lipofuscinosis?

Fatal, inherited disorder of the nervous system that begins in childhood is termed as Neuronal Ceroid Lipofuscinosis.  
Other names by which Neuronal Ceroid Lipofuscinosis is referred
Batten Disease, Batten-Mayou Syndrome, Batten-Spielmeyer-Vogt's Disease, Batten-Vogt Syndrome, Neuronal Ceroid Lipofuscinosis, Spielmeyer-Vogt Disease, Spielmeyer-Vogt-Batten Syndrome, Stengel's Syndrome, Stengel-Batten-Mayou-Spielmeyer-Vogt-Stock Disease.

Causes of Neuronal Ceroid Lipofuscinosis:

This disorder is caused by abnormalities in genes that are involved with the production and use of certain body proteins. The disorders results in a buildup of fats and proteins called lipopigments in the cells of the brain, eyes, skin, and other tissues. Scientists have made progress in identifying the defective enzymes and mutated genes that underlie these disorders, but it is not yet known exactly how the gene mutations cause this buildup of lipopigments.

Symptoms of Neuronal Ceroid Lipofuscinosis:

Early symptoms of this disorder usually appear between the ages of 5 and 10, when parents or physicians may notice a previously normal child has begun to develop vision problems or seizures. In some cases the early signs are subtle, taking the form of personality and behavior changes, slow learning, clumsiness, or stumbling.

The major symptoms which  appears in Neuronal Ceroid Lipofuscinosis (NCL) include the Vision loss (an early sign) and blindness, Muscle in-coordination, Decreasing mental function or mental retardation, Emotional disturbances or difficulties, Seizures, Muscle spasms, Deterioration of muscle tone, Movement problems etc.

Diagnosis of Neuronal Ceroid Lipofuscinosis:

Neuronal Ceroid Lipofuscinosis is often difficult to diagnose because it is so rare. Therefore, an initial diagnosis may result from an eye exam. To confirm the diagnosis, tests are taken include blood or urine tests, skin or tissue sampling, an electroencephalogram (EEG), electrical studies of the eyes, and brain scans etc.

Treatment of Neuronal Ceroid Lipofuscinosis:

No specific treatment is known that can halt or reverse the symptoms of this disorder. However, seizures can sometimes be reduced or controlled with anticonvulsant drugs, and other medical problems can be treated appropriately as they arise. Physical therapy and occupational therapy may help also.