|What is Late Infantile
Late Infantile Battens – CLN2 Neuronal Ceroid Lipofuscinosis
Late Infantile Battens is a rare genetic disorder with less than 500 known cases worldwide. To be affected, a child must inherit two defective genes, one from each parent. If each parent carries the defective gene, chances are 1-in-4 that any child will be affected. The disease generally starts between 2 and 4 years old.
The defective gene causes a deficiency of an essential enzyme, resulting in the body’s inability to break down lipopigments (fats and proteins). The build up of these fats and proteins ultimately forces the child’s brain cells to shut down.
Striking without warning, the first signs of Late Infantile Battens are
seizures, loss of muscle co-ordination, blindness and mental deterioration.
Battens leads to a vegetative state and is ultimately fatal (usually between
the ages of 8 and 12).