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Chediak-Higashi syndrome

Chediak-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.

Defects have been found in the CHS1 (also called LYST) 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)

Infection of affected children with certain viruses, such as Epstein-Barr virus (EBV), can cause a deadly illness resembling the blood cancer lymphoma.

Other symptoms may include:

  • Decreased vision
  • Intellectual disability
  • Muscle weakness
  • Nerve problems in the limbs (peripheral neuropathy)
  • Nosebleeds or easy bruising
  • Numbness
  • Tremor
  • Seizures
  • Sensitivity to bright light (photophobia)
  • Unsteady walking (ataxia)

Exams and Tests

The 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. Bone marrow transplants performed early in the disease appear to have been successful in several patients.

Antibiotics are used to treat 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.

Support Groups

National Organization for Rare Disorders (NORD) -- rarediseases.org

Outlook (Prognosis)

Death often occurs in the first 10 years of life, from long-term (chronic) infections or accelerated disease that results in lymphoma-like illness. 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

Call 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.

References

Coates TD. Disorders of phagocyte function. In: Kliegman RM, Stanton BF, St. Geme JW, Schor NF, eds. Nelson Textbook of Pediatrics. 20th ed. Philadelphia, PA: Elsevier; 2016:chap 130.

Introne WJ, Westbroek W, Golas GA, et al. Chediak-Higashi syndrome. Gene Reviews. 2015. PMID: 20301751 www.ncbi.nlm.nih.gov/pubmed/20301751.

Pai S-Y, Notarangelo LD. Congenital disorders of lymphocyte function. In: Hoffman R, Benz EJ, Silberstein LE, Heslop HE, Weitz JI, Anastasi J, eds. Hematology: Basic Principles and Practice. 6th ed. Philadelphia, PA: Elsevier Saunders; 2013:chap 49.

Review Date 8/6/2017

Updated by: Anna C. Edens Hurst, MD, MS, Assistant Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.