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$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.