Definition

Canavan disease, which results when the body produces less than normal amounts of a protein called aspartoacylase, is a fatal inherited disorder characterized by progressive damage to the brain and nervous system.

Description

Canavan disease is named after Dr. Myrtelle Canavan who described a patient with the symptoms of Canavan disease but mistakenly diagnosed this patient with Schilder's disease. It was not until 1949, that Canavan disease was recognized as a unique genetic disease by Van Bogaert and Betrand. The credit went to Dr. Canavan, however, whose initial description of the disease dominated the medical literature.

Canavan disease, which is also called aspartoacylase deficiency, spongy degeneration of the brain, and infantile spongy degeneration, results from a...