CANAVAN DISEASE

Course overview

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. THIS ACTIVITY REVIEWS THE CAUSE, PRESENTATION, PATHOPHYSIOLOGY AND DIAGNOSIS OF CANAVAN DISEASE AND HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN ITS MANAGEMENT.