BACK TOTOP Browse A-ZSearchBrowse A-ZABCDEFGHIJKLMNOPQRSTUVWXYZ0-9 E-mail FormEmail ResultsName:Email address:Recipients Name:Recipients address:Message: Print-FriendlyBookmarksbookmarks-menuChediak-Higashi syndromeChediak-Higashi syndrome is a rare disease of the immune and nervous systems. It involves pale-colored hair, eyes, and skin. Causes Chediak-Higashi syndrome is passed down through families (inherited). It is an autosomal recessive disease. This means that both parents are carriers of a non-working copy of the gene. Each parent must pass their non-working gene to the child for them to show symptoms of the disease.Autosomal recessiveAutosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me...Read Article Now Book Mark Article Defects have been found in the LYST (also called CHS1) gene. The primary defect in this disease is found in certain substances normally present in skin cells and certain white blood cells. Symptoms Children with this condition may have:Silver hair, light-colored eyes (albinism) Increased infections in the lungs, skin, and mucous membranes Jerky eye movements (nystagmus)NystagmusNystagmus is a term to describe uncontrollable movements of the eyes that may be:Side to side (horizontal nystagmus)Up and down (vertical nystagmus)R...Read Article Now Book Mark Article Infection of affected children with certain viruses, such as Epstein-Barr virus (EBV), can cause a life-threatening illness resembling the blood cancer lymphoma called hemophagocytic lymphohistiocytosis.EBVMononucleosis, or mono, is a viral infection that causes fever, sore throat, and swollen lymph glands, most often in the neck.Read Article Now Book Mark Article LymphomaHodgkin lymphoma is a cancer of lymph tissue. Lymph tissue is found in the lymph nodes, spleen, liver, bone marrow, and other sites.Read Article Now Book Mark Article Other symptoms may include:Decreased vision Intellectual disability Muscle weakness Nerve problems in the limbs (peripheral neuropathy) Peripheral neuropathyPeripheral nerves carry information to and from the brain. They also carry signals to and from the spinal cord to the rest of the body. Peripheral n...Read Article Now Book Mark Article Nosebleeds or easy bruising Numbness Tremor Seizures Sensitivity to bright light (photophobia) Unsteady walking (ataxia)AtaxiaUncoordinated movement is due to a muscle control problem that causes an inability to coordinate movements. It leads to a jerky, unsteady, to-and-fr...Read Article Now Book Mark Article Exams and Tests Your health care provider will perform a physical exam. This may show signs of a swollen spleen or liver or jaundice.Tests that may be done include:Complete blood count, including white blood cell count Blood platelet count Blood culture and smear Brain MRI or CT EEG EMG Nerve conduction tests Treatment There is no specific treatment for Chediak-Higashi syndrome. High doses of vitamin C may help some children whose condition is in the stable phase. Hematopoietic stem cells appear to have been successful in several patients.Antibiotics are used to treat and, sometimes, prevent infections. Antiviral drugs, such as acyclovir, and chemotherapy drugs are often used in the accelerated phase of the disease. Blood and platelet transfusions are given as needed. Surgery may be needed to drain abscesses in some cases. AbscessesAn abscess is a collection of pus in any part of the body. In most cases, the area around an abscess is swollen and inflamed.Read Article Now Book Mark Article Support Groups More information and support for people with Chediak-Higashi syndrome and their families can be found at:National Organization for Rare Disorders (NORD) -- rarediseases.org/rare-diseases/chediak-higashi-syndrome/ Outlook (Prognosis) Death often occurs in the first 10 years of life, from long-term (chronic) infections or accelerated disease that results in the lymphoma-like illness (hemophagocytic lymphohistiocytosis). However, some affected children have survived longer. Possible Complications Complications may include:Frequent infections involving certain types of bacteria Lymphoma-like cancer triggered by viral infections such as EBV Early death When to Contact a Medical Professional Contact your provider if you have a family history of this disorder and you are planning to have children.Talk to your provider if your child shows symptoms of Chediak-Higashi syndrome. Prevention Genetic counseling is recommended before becoming pregnant if you have a family history of Chediak-Higashi syndrome.Open ReferencesReferencesCoates TD. Disorders of phagocyte function. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 156.Dinauer MC, Coates TD. Disorders of phagocyte function. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 51.Holland SM, Gallin JI. Evaluation of the patient with suspected immunodeficiency. In: Bennett JE, Dolin R, Blaser MJ, eds. Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases. 9th ed. Philadelphia, PA: Elsevier; 2020:chap 12.AllVideoImagesTogRelated Information Autosomal recessive(Special Topic)Albinism(Condition)Nystagmus(Symptoms)Movement - uncoordinated(Symptoms)Peripheral neuropathy(Condition)Mononucleosis(Condition)Hodgkin lymphoma(Condition)Hodgkin disease - InDepth(In-Depth) Review Date: 9/18/2023 Reviewed By: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. 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Chediak-Higashi syndromeChediak-Higashi syndrome is a rare disease of the immune and nervous systems. It involves pale-colored hair, eyes, and skin. Causes Chediak-Higashi syndrome is passed down through families (inherited). It is an autosomal recessive disease. This means that both parents are carriers of a non-working copy of the gene. Each parent must pass their non-working gene to the child for them to show symptoms of the disease.Autosomal recessiveAutosomal recessive is one of several ways that a trait, disorder, or disease can be passed down through families. An autosomal recessive disorder me...Read Article Now Book Mark Article Defects have been found in the LYST (also called CHS1) gene. The primary defect in this disease is found in certain substances normally present in skin cells and certain white blood cells. Symptoms Children with this condition may have:Silver hair, light-colored eyes (albinism) Increased infections in the lungs, skin, and mucous membranes Jerky eye movements (nystagmus)NystagmusNystagmus is a term to describe uncontrollable movements of the eyes that may be:Side to side (horizontal nystagmus)Up and down (vertical nystagmus)R...Read Article Now Book Mark Article Infection of affected children with certain viruses, such as Epstein-Barr virus (EBV), can cause a life-threatening illness resembling the blood cancer lymphoma called hemophagocytic lymphohistiocytosis.EBVMononucleosis, or mono, is a viral infection that causes fever, sore throat, and swollen lymph glands, most often in the neck.Read Article Now Book Mark Article LymphomaHodgkin lymphoma is a cancer of lymph tissue. Lymph tissue is found in the lymph nodes, spleen, liver, bone marrow, and other sites.Read Article Now Book Mark Article Other symptoms may include:Decreased vision Intellectual disability Muscle weakness Nerve problems in the limbs (peripheral neuropathy) Peripheral neuropathyPeripheral nerves carry information to and from the brain. They also carry signals to and from the spinal cord to the rest of the body. Peripheral n...Read Article Now Book Mark Article Nosebleeds or easy bruising Numbness Tremor Seizures Sensitivity to bright light (photophobia) Unsteady walking (ataxia)AtaxiaUncoordinated movement is due to a muscle control problem that causes an inability to coordinate movements. It leads to a jerky, unsteady, to-and-fr...Read Article Now Book Mark Article Exams and Tests Your health care provider will perform a physical exam. This may show signs of a swollen spleen or liver or jaundice.Tests that may be done include:Complete blood count, including white blood cell count Blood platelet count Blood culture and smear Brain MRI or CT EEG EMG Nerve conduction tests Treatment There is no specific treatment for Chediak-Higashi syndrome. High doses of vitamin C may help some children whose condition is in the stable phase. Hematopoietic stem cells appear to have been successful in several patients.Antibiotics are used to treat and, sometimes, prevent infections. Antiviral drugs, such as acyclovir, and chemotherapy drugs are often used in the accelerated phase of the disease. Blood and platelet transfusions are given as needed. Surgery may be needed to drain abscesses in some cases. AbscessesAn abscess is a collection of pus in any part of the body. In most cases, the area around an abscess is swollen and inflamed.Read Article Now Book Mark Article Support Groups More information and support for people with Chediak-Higashi syndrome and their families can be found at:National Organization for Rare Disorders (NORD) -- rarediseases.org/rare-diseases/chediak-higashi-syndrome/ Outlook (Prognosis) Death often occurs in the first 10 years of life, from long-term (chronic) infections or accelerated disease that results in the lymphoma-like illness (hemophagocytic lymphohistiocytosis). However, some affected children have survived longer. Possible Complications Complications may include:Frequent infections involving certain types of bacteria Lymphoma-like cancer triggered by viral infections such as EBV Early death When to Contact a Medical Professional Contact your provider if you have a family history of this disorder and you are planning to have children.Talk to your provider if your child shows symptoms of Chediak-Higashi syndrome. Prevention Genetic counseling is recommended before becoming pregnant if you have a family history of Chediak-Higashi syndrome.Open ReferencesReferencesCoates TD. Disorders of phagocyte function. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 156.Dinauer MC, Coates TD. Disorders of phagocyte function. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 8th ed. Philadelphia, PA: Elsevier; 2023:chap 51.Holland SM, Gallin JI. Evaluation of the patient with suspected immunodeficiency. In: Bennett JE, Dolin R, Blaser MJ, eds. Mandell, Douglas, and Bennett's Principles and Practice of Infectious Diseases. 9th ed. Philadelphia, PA: Elsevier; 2020:chap 12.