$Unique_ID{BRK03936} $Pretitle{} $Title{Leukodystrophy, Canavan's} $Subject{Leukodystrophy, Canavan's Spongy Degeneration of the Brain Van Bogaert-Bertrand Syndrome Familial Idiocy with Spongy Degeneration of Neuraxis Canavan-Van Bogaert-Bertrand Disease Canavan's Disease Spongy Degeneration Spongy Degeneration of CNS Spongy Degeneration of White Matter Spongy Disease Van Bogaert-Bertrand Type Spongy Degeneration } $Volume{} $Log{} Copyright (C) 1986, 1990 National Organization for Rare Disorders, Inc. 157: Leukodystrophy, Canavan's ** IMPORTANT ** It is possible that the main title of the article (Canavan's Leukodystrophy) is not the name you expected. Please check the SYNONYMS listing to find the alternate names and disorder subdivisions covered by this article. Synonyms Spongy Degeneration of the Brain Van Bogaert-Bertrand Syndrome Familial Idiocy with Spongy Degeneration of Neuraxis Canavan-Van Bogaert-Bertrand Disease Canavan's Disease Spongy Degeneration Spongy Degeneration of CNS Spongy Degeneration of White Matter Spongy Disease Van Bogaert-Bertrand Type Spongy Degeneration General Discussion ** REMINDER ** The information contained in the Rare Disease Database is provided for educational purposes only. It should not be used for diagnostic or treatment purposes. If you wish to obtain more information about this disorder, please contact your personal physician and/or the agencies listed in the "Resources" section. Canavan's Leukodystrophy is a rare brain disease affecting infants which usually becomes evident after the first six months of life. Individuals with this disorder lack sufficient quantities of an enzyme known as aspartoacylase which is responsible for breaking down a chemical (N-acetylaspartic acid or NAA) present in high concentrations in the brain. The appropriate breakdown of this chemical may either prevent damaging buildup in the brain or trigger chemical reactions necessary for proper brain function. A slow progressive degeneration of the brain occurs in this type of Leukodystrophy, as well as progressive paralysis and blindness. Symptoms Onset of Canavan's Leukodystrophy is in early infancy, with the loss of previously acquired skills. The first symptoms include feeding difficulties, progressive mental retardation, apathy, muscular flaccidity (floppiness) and weakness, especially in the muscles supporting the head. The head becomes progressively enlarged as the brain swells and the bones of the skull fail to fuse normally. Vision, and sometimes hearing, deteriorate due to nerve degeneration. Spasticity and paralysis develop. Mental deterioration progresses with time. Neurologic examination reveals decreased muscle tone (floppiness) and optic atrophy. The brain itself is enlarged. Cyst-like spaces pervade the white matter, and the myelin sheath "insulating" the neuron's axons is destroyed in most parts of the brain. Computerized axial tomography (CAT scan) demonstrates severe white matter changes, and helps to rule out hydrocephalus. Pneumonia may develop due to depressed chest movement while breathing. Causes Canavan's Leukodystrophy is inherited as an autosomal recessive trait. (Human traits including the classic genetic diseases, are the product of the interaction of two genes for that condition, one received from the father and one from the mother. In recessive disorders, the condition does not appear unless a person inherits the same defective gene from each parent. If one receives one normal gene and one gene for the disease, the person will be a carrier for the disease, but usually will show no symptoms. The risk of transmitting the disease to the children of a couple, both of whom are carriers for a recessive disorder, is twenty-five percent. Fifty percent of their children will be carriers, but healthy as described above. Twenty-five percent of their children will receive both normal genes, one from each parent and will be genetically normal.) Affected Population Canavan's Leukodystrophy affects people of East European Jewish ancestry. The disorder is familial; infants of both sexes are affected. Related Disorders Alexander's Disease is an infantile form of leukodystrophy characterized by an enlarged brain, mental retardation, failure to thrive, spasticity and possibly seizures. Adrenoleukodystrophy (Schilder's Disease or Schilder's Encephalitis Periaxalis Diffusa) is a rare, sex-linked recessive metabolic disorder that occurs in males and is characterized by adrenal atrophy and widespread, diffuse demyelination (destruction of the myelin sheath of nerve cells). This produces mental deterioration, corticospinal dysfunction and blindness. For more information on the above disorders, choose "Alexander" and "Adrenoleukodystrophy" as your search terms in the Rare Disease Database. Therapies: Standard Treatment of Canavan's Leukodystrophy is symptomatic and supportive. Discomfort may be alleviated by means of supportive care. Therapies: Investigational The enzyme responsible for Canavan's Leukodystrophy has been identified. This finding may lead to the development of prenatal diagnostic tests and possibly development of therapies to treat this disorder. A study is underway to establish reliable diagnostic urine, blood and enzymatic tests for Canavan's patients. A group of researchers is currently doing studies on peroxisomal diseases such as Canavan's Leukodystrophy. They seek to obtain blood and urine samples, and possibly skin biopsies, from affected patients and families. Liver biopsy tissue and tissues obtained postmortem can also be extremely valuable in furthering this research. Prior arrangements are advisable for the latter. These studies are for research purposes only. They offer no immediate promise of any help for affected children, nor of improved counseling for families. For more information, please contact: Dr. Anne B. Johnson Dept. of Pathology--K427 Albert Einstein College of Medicine 1300 Morris Park Avenue Bronx, NY 10461 (212) 430-2492 This disease entry is based upon medical information available through April 1990. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder. Resources For more information on Canavan's Leukodystrophy, please contact: National Organization for Rare Disorders (NORD) P.O. Box 8923 New Fairfield, CT 06812-1783 (203) 746-6518 United Leukodystrophy Foundation 2304 Highland Drive Sycamore, IL 60178 (815) 895-3211 (800) 728-5483 NIH/National Institute of Neurological Disorders & Stroke (NINDS) 9000 Rockville Pike Bethesda, MD 20892 (301) 496-5751 (800) 352-9424 Association Europeenne contre les Leucodystrophies 7 Rue Pasteur 54000 NANCY France National Foundation for Jewish Genetic Diseases 250 Park Avenue New York, NY 10177 (212) 682-5550 National Tay-Sachs and Allied Diseases Association, Inc. 2001 Beacon St, Rm. 304 Brookline, MA 02164 (617) 277-4463 or 277-3965 For more information on genetics and genetic counseling, please contact: March of Dimes Birth Defects Foundation 1275 Mamaroneck Avenue White Plains, NY 10605 (914) 428-7100 Alliance of Genetic Support Groups 35 Wisconsin Circle, Suite 440 Chevy Chase, MD 20815 (800) 336-GENE (301) 652-5553 References CECIL TEXTBOOK OF MEDICINE, 18th ed.: James B. Wyngaarden, and Lloyd H. Smith, Jr., Eds.: W. B. Saunders Co., 1988. P. 2216. THE MERCK MANUAL 15th ed: R. Berkow, et al: eds; Merck, Sharp & Dohme Research Laboratories, 1987. P. 1013.