Neuronal ceroid lipofuscinosis is a group of inherited progressive degenerative brain diseases. Patients suffer from the characteristic symptoms of epilepsy, loss of mental ability and loss of vision (retinal degeneration).
These are caused by an accumulation of ceroid lipofuscin in the cells of the brain neurons and the retina. The clinical picture of the different types varies very much apart from the main symptoms, in the secondary symptoms and in the age of onset.
The infantile form begins between the 6th and 24th month of life and causes a halt or regression of psychomotor development, as well as hypotonia, epilepsy and brain tissue atrophy.
In the late infantile form, patients suffer from convulsions, ataxia, brain atrophy, and dementia. Patients who get sick between the ages of 5 and 10 have the juvenile form. Symptoms include vision loss, decline in motor and cognitive skills, epilepsy and dementia.
In accordance with the age of onset, life expectancy also varies from a few hours after birth to 50 years.
The infantile form begins between the ages of 6 and 24 months and causes a stop or a fall in psychomotor development, as well as hypotonia, epilepsy, and brain tissue atrophy.
In the late infantile form, patients suffer from agonizing, ataxia, brain atrophy, and dementia. Patients who get sick between the ages of 5 and 10 have the juvenile form. Symptoms include vision loss, decrease in motor and cognitive abilities, epilepsy and dementia.Life expectancy varies from a few hours after birth to 50 years, according to the age of onset.