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$Unique_ID{BRK03589}
$Pretitle{}
$Title{Chediak-Higashi Syndrome}
$Subject{Chediak-Higashi Syndrome Oculocutaneous Albinism Leukocytic Anomaly
Albinism Chediak-Steinbrinck-Higashi Syndrome Begnez-Cesar's Syndrome}
$Volume{}
$Log{}
Copyright (C) 1986, 1987, 1990 National Organization for Rare Disorders,
Inc.
161:
Chediak-Higashi Syndrome
** IMPORTANT **
It is possible that the main title of the article (Chediak-Higashi
Syndrome) is not the name you expected. Please check the SYNONYM listing to
find the alternate names and disorder subdivisions covered by this article.
Synonyms
Oculocutaneous Albinism
Leukocytic Anomaly Albinism
Chediak-Steinbrinck-Higashi Syndrome
Begnez-Cesar's 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.
Chediak-Higashi Syndrome is a form of albinism characterized by decreased
pigmentation, ocular problems, white blood cell anomalies, and increased
susceptibility to infections and certain cancers. The disorder is hereditary
and difficult to treat.
Symptoms
Chediak-Higashi Syndrome can be diagnosed in early infancy because of partial
albinism; i.e., the eyes, hair, and skin are very light in color. Strong
light causes ocular discomfort and nystagmus (rapid, involuntary eye
movements, almost resembling an ocular tremor).
White blood cells are reduced in number; those known as neutrophils, as
well as lymphocytes, contain characteristic inclusions. Defects and
deficiencies of these cells, which normally provide defense against foreign
organisms such as bacteria, result in frequent infections accompanied by high
fever. Abnormal cells can infiltrate many organs, including the lungs,
brain, kidneys, adrenal glands, and liver.
Thrombocytes, or platelets, are also reduced in number resulting in a
tendency to bleed excessively upon injury and to bruise easily.
Children with this disorder are weak, grow poorly, and have enlarged
livers, spleens, and lymph nodes. They are also highly susceptible to
cancers of the lymphoreticular system (that is, leukemias and lymphomas).
Causes
Chediak-Higashi Syndrome is inherited through an autosomal recessive
mechanism. (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.)
The biochemical defect consists of an inability to release enzymes into
intracellular compartments specialized for the destruction of foreign
materials such as bacteria, and an inability to produce normal amounts of
melanin, the pigment found in skin, eyes, and hair.
Related Disorders
Chediak-Higashi Syndrome belongs to the disorders of pigmentation known as
Albinism. It is also related to the May-Hegglin Anomaly, which is
characterized by similar inclusions in the white blood cells, but is much
milder.
Therapies: Standard
Treatment of Chediak-Higashi Syndrome is symptomatic. Supportive treatment
consists of preventing infections as much as possible, treating them
vigorously with antibiotics when they occur, and transfusing whole blood when
bleeding becomes excessive after injuries or surgery. Leukocyte (white blood
cell) transfusions may be of use in treating infections. If cancer develops,
standard cancer therapy is indicated depending on the type of neoplasm.
Exposure to sunlight should be avoided. Sunscreens and sunglasses can be
useful in this respect.
Therapies: Investigational
This disease entry is based upon medical information available through
January 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 Chediak-Higashi Syndrome, please contact:
National Organization for Rare Disorders (NORD)
P.O. Box 8923
New Fairfield, CT 06812-1783
(203) 746-6518
The National Adrenal Diseases Foundation
505 Northern Blvd., Suite 200
Great Neck, NY 11021
(516) 487-4992
National Organization for Albinism and Hypopigmentation (NOAH)
919 Walnut Street, Room 400
Philadelphia, PA 19107
(215) 545-2322
NIH/National Institute of Allergy and Infectious Diseases
9000 Rockville Pike
Bethesda, MD 20892
(301) 496-5717
For information on genetics and genetic counseling referrals, 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. Pp. 958-9, 1057, 1113, 1534-6.
THE MERCK MANUAL 15th ed. R. Berkow, et al: eds; Merck, Sharp & Dohme
Research Laboratories, 1987. Pp. 278, 1164.
SMITH'S RECOGNIZABLE PATTERNS OF HUMAN MALFORMATION, 4th ed., Kenneth L
Jones, M.D., W. B. Saunders, Co. 1988. P. 542.