Canavan Disease

Excerpt

Canavan disease, also called Canavan-Van Bogaert-Bertrand disease, is a rare, progressive, and fatal neurological hereditary disorder that begins in infancy. It is part of a group of genetic diseases referred to as leukodystrophies. It is associated with the deficiency of an essential enzyme resulting in the loss of white matter in the brain, which subsequently leads to the defective transmission of nerve signals.

The neonatal form is the most common and is usually associated with the most severe symptoms. Most infants appear healthy immediately after birth, but within 2 to 6 months, obvious deficits in gross motor development will be apparent. The infant may not be able to move, turn over, control head movements, or support itself. Hypotonia is a common feature and is usually associated with macrocephaly. Most infants have difficulty with feeding and develop seizures.