Infantile neuronal ceroid lipofuscinosis is a rare and fatal genetic condition that causes the death of neurons in the brain and spinal cord. It is characterized by a buildup of lipopigments, which are fats that accumulate in the cells of affected individuals. The accumulation of lipopigments causes the cells to malfunction and eventually die. The first signs of infantile neuronal ceroid lipofuscinosis appear at a  Read More

Joubert syndrome is a rare condition that affects infants and kids whose brains don't grow correctly. Only around one in 100,000 or more infants are reported to be affected. There have only been a few hundred cases documented in the medical literature. The cerebellar vermis, a region of the brain that regulates balance and coordination, is either absent or underdeveloped. Additionally, there are abnormalities in the brain stem  Read More