$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.