Spongy Degeneration of Infancy (SDI), also known as Canavan Disease, is a rare and progressive genetic disorder that affects the development and functioning of the brain. It is classified as a leukodystrophy, a group of disorders characterized by abnormal growth or development of the myelin sheath, a fatty substance that insulates nerve fibers in the brain.
SDI is typically detected in infancy or early childhood, and it primarily affects the white matter of the brain. Individuals with this condition lack an enzyme called aspartoacylase, which leads to the accumulation of a substance called N-acetyl-L-aspartic acid (NAA) in the brain. This build-up leads to the destruction of myelin, resulting in the spongy appearance of brain tissue observed under a microscope.
Symptoms of SDI usually become noticeable within the first few months of life and can include an abnormally large head, poor muscle tone, delays in motor development, and intellectual disability. Other symptoms may include seizures, feeding difficulties, and vision problems.
Unfortunately, there is currently no cure for SDI. Treatment primarily focuses on managing symptoms, providing supportive care, and improving the quality of life for affected individuals. Physical therapy, occupational therapy, and speech therapy may be recommended to help with developmental delays, while medications may be prescribed to manage seizures. Genetic counseling is also essential for families affected by SDI, as it is an inherited disorder passed down in an autosomal recessive manner.
Overall, Spongy Degeneration of Infancy is a rare genetic disorder that causes progressive damage to the brain's white matter, resulting in developmental delays, intellectual disability, and other neurological symptoms.
