The term "neuronal ceroid lipofuscinosis" is a bit of a mouthful, but it basically means that the body can't break down and get rid of waste products that are formed by the body's cells.
This happens when there's a genetic mutation in one of the enzymes that breaks down these waste products. When this happens, they build up in your body and cause damage to your cells.
1. The most common type of neuronal ceroid lipofuscinosis is infantile type neuronal ceroid lipofuscinosis, which is caused by an enzyme called phytanoyl-CoA hydroxylase (PHYH), which is responsible for breaking down fats.
2. If there's a genetic mutation in PHYH, it won't work properly, which means that fats aren't broken down as they're supposed to be—and then they start getting deposited in your cells instead.
3. This leads to clumps forming inside your cells, which causes them to swell up and die—this process is called lipofuscinosis. It also leads to inflammation in the brain tissue around these dead neurons (the gray matter), which leads to seizures and other neurological problems like muscle stiffness or weakness.
The risk factors for infantile type neuronal ceroid lipofuscinosis include:
1. Genetic mutation: This is the most common cause of infantile type neuronal ceroid lipofuscinosis. The mutation causes a protein called CLN1 to not function properly, which leads to the buildup of lipofuscin in neurons.
2. Prenatal injury: Injury during the prenatal period can lead to the buildup of lipofuscin in neurons.
3. Environmental factors: There are many environmental factors that can cause infantile type neuronal ceroid lipofuscinosis, including alcohol consumption and cigarette smoking during pregnancy, as well as exposure to toxins or drugs in utero.
4. Infection: Infantile type neuronal ceroid lipofuscinosis may be caused by infections during fetal development or at birth; examples include cytomegalovirus (CMV), rubella virus (German measles), herpes simplex virus (cold sores), varicella zoster virus (chicken pox) and Epstein-Barr virus (mononucleosis).
Seizures,Blindness,Cognitive impairment,Loss of muscle tone and coordination
Poor growth or weight gain in infancy,Delayed speech and language development, including delayed vocabulary,An abnormal electroencephalogram (EEG),rogressive hearing loss
Aniracetam (Nootropil),Donepezil (Aricept),Galantamine (Razadyne),Memantine (Namenda)