Medical Definition of Canavan disease

  • Medical Author:
    William C. Shiel Jr., MD, FACP, FACR

    Dr. Shiel received a Bachelor of Science degree with honors from the University of Notre Dame. There he was involved in research in radiation biology and received the Huisking Scholarship. After graduating from St. Louis University School of Medicine, he completed his Internal Medicine residency and Rheumatology fellowship at the University of California, Irvine. He is board-certified in Internal Medicine and Rheumatology.

Canavan disease: A progressive, inherited disorder of the central nervous system that is caused by a deficiency of the enzyme aspartoacylase. Signs appearing in children between 3 and 6 months of age include developmental delay, significant motor slowness, enlargement of the head (macrocephaly), loss of muscle tone (hypotonia), poor head control, and severe feeding problems. As the disease progresses, seizures, shrinkage of the nerve to the eye (optic atrophy), and often blindness develop, as do heartburn (gastrointestinal reflux) and deterioration of the ability to swallow. Canavan disease is inherited as an autosomal recessive condition, with both parents silently carrying a single Canavan gene and each of their children running a 25 percent risk of receiving both genes and having the disease. Canavan disease is more prevalent among individuals of Eastern European Jewish (Ashkenazi) background than in others. There is currently no effective treatment and affected children die in the first decade of life. Also known as spongy degeneration of the central nervous system and Canavan-Van Bogaert-Bertrand disease.

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Reviewed on 12/27/2018

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