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$Unique_ID{BRK03435}
$Pretitle{}
$Title{Aicardi Syndrome}
$Subject{Aicardi Syndrome Chorioretinal Anomalies Agenesis of Corpus
Callosum-Chorioretinal Abnormality Agenesis of Corpus Callosum-Infantile
Spasms-Ocular Anomalies Corpus Callosum, Agenesis of Chorioretinal Abnormality
Callosal Agenesis Ocular Abnormalities Agenesis of the Corpus Callosum
Cytomegalovirus Infection Fetal Rubella Syndrome Fetal Toxoplasmosis Syndrome}
$Volume{}
$Log{}

Copyright (C) 1985, 1987, 1992, 1993 National Organization for Rare
Disorders, Inc.

49:
Aicardi Syndrome

** IMPORTANT **
It is possible that the main title of the article (Aicardi Syndrome) is
not the name you expected.  Please check the SYNONYMS listing to find the
alternate name and disorder subdivisions covered by this article.

Synonyms

     Chorioretinal Anomalies
     Agenesis of Corpus Callosum-Chorioretinal Abnormality
     Agenesis of Corpus Callosum-Infantile Spasms-Ocular Anomalies
     Corpus Callosum, Agenesis of Chorioretinal Abnormality
     Callosal Agenesis
     Ocular Abnormalities

Information on the following diseases can be found in the Related
Disorders section of this report:

     Agenesis of the Corpus Callosum
     Cytomegalovirus Infection
     Fetal Rubella Syndrome
     Fetal Toxoplasmosis Syndrome

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 of this report.


Aicardi Syndrome is an extremely rare congenital disorder in which the
structure linking the two cerebral hemispheres of the brain (corpus callosum)
fails to develop.  The absence of the corpus callosum is associated with
frequent seizures, marked abnormalities of the retina and choroid (the thin
membrane that covers the retina) of the eyes, and/or mental retardation.

Symptoms

Aicardi Syndrome typically begins as involuntary muscle spasms between 4
months and 4 years of age.  Other symptoms may include epilepsy, mental
retardation, profound muscle weakness (hypotonia), an abnormally small head
(microcephaly), abnormally small eyes (microphthalmia), ridges on the eyeball
(colobomas), and/or abnormalities of the ribs and/or spinal column.  Aicardi
Syndrome may increase as the child ages; children of all ages have
significant delay in motor development.  Aicardi Syndrome can be life-
threatening during childhood.  Affected children may survive to adulthood.

Examination of the eyes of children with Aicardi Syndrome typically
reveals small cream-colored cavities (lucunae) within the retina; computer
tomography (CT scans) confirms that the corpus callosum is absent.

Causes

In some cases of Aicardi Syndrome the cause is not known.  In other cases it
may be inherited as an X-linked dominant genetic trait.  Human traits,
including the classic genetic diseases, are the product of the interaction of
two genes, one received from the father and one from the mother.  In X-linked
dominant disorders the female with only one X chromosome affected will
develop the disease.  However, the affected male always has a more severe
condition.  Sometimes affected males die before birth or shortly after so
that only female patients survive.  It is suspected that most cases of
Aicardi Syndrome may be new mutations that are not inherited, but instead
occur spontaneously in the fetus.

Affected Population

Aicardi Syndrome is an extremely rare disorder that affects only females.

Related Disorders

Symptoms of the following disorders can be similar to those of Aicardi
Syndrome.  Comparisons may be useful for a differential diagnosis:

Agenesis of the Corpus Callosum is a rare birth defect involving a
partial or complete absence of the fibers that connect the cerebral
hemispheres of the brain.  Sometimes mental retardation may result, but other
cases may be without symptoms and the child may have normal intelligence.
The early symptoms of this disorder may be grand mal or Jacksonian epileptic
seizures.  These may occur during the first weeks or within the first 2 years
of life.  Other early symptoms may include:  abnormal accumulation of
cerebrospinal fluid around the brain (hydrocephalus), impairment of mental
development, and/or delays in physical development.  (For more information on
this disorder, choose "Agenesis of the Corpus Callosum" as your search term
in the Rare Disease Database.)

Cytomegalovirus (CMV) infection is caused by a virus.  This infection can
occur congenitally or during adulthood.  Cytomegalovirus infection may be a
"silent" infection or have very severe symptoms.  Infants born with severe
Cytomegalovirus infection typically have low birth weight and develop fever,
inflammation of the liver (hepatitis), and/or a decrease in the number of
blood platelets (thrombocytopenia).  Other symptoms may include inflammation
of the choroid and retina of the eyes (chorioretinitis), abnormally small
head (microencephaly), and/or calcifications within the brain.  (For more
information on this disorder, choose "Cytomegalovirus" as your search term in
the Rare Disease Database.)

Congenital Rubella occurs when the rubella virus is transmitted to the
developing fetus from the mother and is associated with a variety of birth
defects.  The symptoms of this disorder may be temporary or permanent.
Temporary symptoms may include:  low birth weight, low platelet count
(thrombocytopenia), enlargement of the liver (hepatomegaly), enlargement of
the spleen (splenomegaly), and/or inflammation of the membranes that surround
the brain and the spinal cord (meningoencephalitis).  Permanent symptoms of
Congenital Rubella may include deafness, cataracts in the eyes, abnormally
small eyes, abnormalities of the retina of the eyes, deformities of the
heart, mental retardation, and/or an abnormally small head.  (For more
information on this disorder, choose "Congenital Rubella" as your search term
in the Rare Disease Database.)

Fetal Toxoplasmosis Syndrome is an infectious disease that is transmitted
to the developing fetus by a mother who is infected with the parasite T.
gondii.  Severe symptoms present at birth may include:  abnormal smallness of
the head (microcephaly), abnormal accumulation of cerebrospinal fluid within
the skull (hydrocephalus), inflammation of the retina and the choroid of the
eye (chorioretinitis), blindness, mental retardation, seizures, low levels of
iron in the blood (anemia), jaundice, and/or skin rashes.  (For more
information on this disorder, choose "Toxoplasmosis" as your search term in
the Rare Disease Database.)

Therapies:  Standard

Anticonvulsant drug therapies may be used to suppress the seizures caused by
Aicardi Syndrome.  These drugs include corticosteroids, adrenocorticotropic
hormone (ACTH), prednisone, phenobarbital, phenytoin, and sodium valproate.
Other treatment is symptomatic and supportive.

Genetic counseling will be of benefit for families with a child who has
Aicardi Syndrome.

Therapies:  Investigational

Research on birth defects and their causes is ongoing.  The National
Institutes of Health (NIH) is sponsoring the Human Genome Project that is
aimed at mapping every gene in the human body and learning why they sometimes
malfunction.  It is hoped that this new knowledge will lead to prevention and
treatment of genetic disorders in the future.

This disease entry is based upon medical information available through
January 1993.  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 Aicardi Syndrome, please contact:

     National Organization for Rare Disorders (NORD)
     P.O. Box 8923
     New Fairfield, CT  06812-1783
     [phone]

     Aicardi Newsletter
     5115 Troy Urbana Rd.
     Casstown, OH  45312-9711

     NIH/National Institute of Neurological Disorders & Stroke (NINDS)
     9000 Rockville Pike
     Bethesda, MD  20892
     [phone]
     [phone]

     Dr. Richard Allen
     Pediatric Neurology Service, 0800/C7123
     Outpatient Building
     University Hospitals
     Ann Arbor, MI  48109-0800
     [phone]

For Genetic Information and Genetic Counseling Referrals:

     March of Dimes Birth Defects Foundation
     1275 Mamaroneck Avenue
     White Plains, NY 10605
     [phone]

     Alliance of Genetic Support Groups
     35 Wisconsin Circle, Suite 440
     Chevy Chase, MD  20815
     (800) 336-GENE
     [phone]

References

MENDELIAN INHERITANCE IN MAN, 10th Ed.:  Victor A. McKusick, Editor:  Johns
Hopkins University Press, 1992.  Pp. 1808-1809.

BIRTH DEFECTS ENCYCLOPEDIA, Mary Louise Buyse, M.D., Editor-In-Chief;
Blackwell Scientific Publications, 1990.  Pp. 66-68.

PRINCIPLES OF NEUROLOGY, 4th Ed.; Raymond D. Adams, M.D. and Maurice
Victor, M.D., Editors; McGraw-Hill Information Services Company, 1989.  Pp.
971-973.

A NEW SYNDROME:  SPASMS IN FLEXION, CALLOSAL AGENESIS, OCULAR
ABNORMALITIES:  J. Aicardi; ECG and Clin Neurophys (1965; 19).  Pp. 609-610.

CLINICAL, CYTOGENETIC, AND PEDIGREE FINDINGS IN 18 CASES OF AICARDI
SYNDROME:  A.E. Donnenfeld, et al; Am J Med Genet (Apr 1989; 32(4)).  Pp.
461-467.