A hereditary disease which affects the enzymes of the brain, causing cells in the brain and eye to die.
Batten disease is one of a group of degenerative encephalopathic diseases known as the neuronal ceroid- lipofuscinoses (NCLs). Batten originally described the disease in 1903. In all the NCLs ceroid or lipofuscin accumulates within neurons and cells in other body systems. The cellular accumulations are autoflourescent, and the lipopigments distend the affected cells. Multiple systems have been derived to categorize the set of NCLs. Although the term Batten disease sometimes is used to refer to the entire set of diseases, classically the term is used to refer only to the juvenile form of the disorder.
The most common of the neuronal ceroid lipofuscinoses (NCLs). This eponym is sometimes used as a synonym for the entire class of NCLs. The disease is an autosomal recessive, neurodegenerative disorder that results from the excessive accumulation of lipid-protein complexes in the brain and eye. Early symptoms include the sudden onset of visual impairment and seizures in childhood. Regression of developmental milestones and dementia precede premature death.
Batten’s disease is classified as one of the hereditary metabolic disorders, belonging to the same group as Tay-Sachs disease. It is characterized by the accumulation of abnormal fatty substances in the cells of the nervous system, leading to progressive dementia, worsening seizures, and vision loss. Typically, the symptoms of Batten’s disease manifest during early childhood.
Currently, there is no known treatment available for Batten’s disease, and sadly, it is generally a fatal condition that affects children during their early years of life.