Diseases

Canavan-Van Bogaert-Bertrand disease

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A progressive, inherited disorder of the central nervous system that is caused by a deficiency of the enzyme aspartoacylase. ... Also known as spongy degeneration of the central nervous system and canavan-van bogaert-bertrand disease.

SYMPTOMS

Symptoms of canavan disease usually appear in the first 3 to 6 months of life and progress rapidly. Symptoms include lack of motor development, feeding difficulties,abnormal muscle tone (weakness or stiffness), and an abnormally large, poorly controlled head. Paralysis, blindness, or hearing loss may also occur.

CAUSES

Canavan disease is classified as a leukodystrophy—a group of inheritedneurological disorders that affect the growth of the myelin sheath. A mutation in the gene which directs the production of the enzyme aspartoacylase (aspa) allows the buildup of n-acetylaspartic acid (naa) in the brain.