Canavan Disease Overview
According to the National Institute of Neurological Disorders and Stroke, Canavan disease is one of the most common cerebral degenerative diseases of infancy. It is a neurological disorder in which the white matter of the brain degenerates into spongy tissue containing microscopic fluid-filled spaces.
Symptoms of Canavan disease usually develop within the first year of life. They include abnormal posture with flexed arms and straight legs, backflow of food material into the nose (nasal regurgitation), feeding problems, increasing head size (macrocephaly), irritability, lack of head control when baby is pulled from a lying to a sitting position (head lag), poor muscle tone, especially of the neck muscles, poor visual tracking or blindness, reflux with vomiting, seizures, severe mental retardation and swallowing difficulties.
The primary cause of Canavan disease is a mutated gene linked to the disorder. Both parents must carry the defective gene in order to have an affected child. When both parents carry the gene mutation, there is a 25% chance with each pregnancy that the child will be affected with the disease
The diagnosis procedure for Canavan disease includes a variety of tests, including blood chemistry and genetic testing. Head CT and MRI scans are also performed. Currently there is no full treatment for Canavan disease. The only treatment available only aims to ease symptoms.
The prognosis for Canavan disease is very poor. The disease causes many patients to become disabled and/or blind. Due to the breakdown of the central nervous system, death usually occurs before 18 months of age. However, some patients live until they are teenagers or young adults.
