ABC Medical Center > Diseases > Chediak-Higashi Syndrome

What is chediak-higashi syndrome?

3 December 2025

It is a rare, inherited immune and nervous disorder characterized by a lack of pigment in the hair, eyes, and skin; as well as continuous infections, especially in the respiratory tract.

Chediak-Higashi syndrome is an autosomal recessive genetic disease in which both parents carry a defective copy of the LYST gene, which is responsible for the production of a protein that helps regulate the size and number of certain organelles within cells called lysosomes, interfering with their normal functioning.

Signs and symptoms Chediak-Higashi Syndrome

  • Albinism (lack of melanin in the skin, eyes, and hair).
  • Seizures.
  • Muscle weakness.
  • Difficulty walking.
  • Numbness.
  • Elevated temperature.
  • Photosensitivity.
  • Bruising.
  • Gingivitis.
  • Jaundice.
  • Frequent infections in mucous membranes, skin, and lungs.
  • Lymphoma.
  • Peripheral neuropathy.
  • Vision problems.
  • Nosebleeds.
  • Tremors.

Diagnosis and treatment Chediak-Higashi Syndrome

The specialist will analyze the symptoms and clinical history, and then perform a physical examination. They may also request other studies to rule out other diseases and confirm the diagnosis, such as:

  • Electroencephalogram.
  • Electromyography.
  • Blood tests.
  • Nerve conduction studies.
  • Genetic testing.
  • Magnetic resonance imaging.
  • Computed tomography.

Treatment for Chediak-Higashi syndrome consists of relieving symptoms and usually includes:

  • Antibiotics and antifungals to help prevent infections.
  • Surgery to drain abscesses.
  • Corticosteroids.
  • Spleen removal (on occasion).
  • Blood and platelet transfusions.
  • Bone marrow transplant.

In the Department of Internal Medicine at Centro Médico ABC, we provide medical care services with the highest quality and safety, from the prevention, diagnosis, timely treatment, and follow-up of infectious, respiratory, endocrinological, dermatological, rheumatic, nephrological, gastrointestinal, and hematological pathologies, both chronic-degenerative conditions and acute conditions, through a comprehensive and multidisciplinary model.

Fuentes:

  • cun.es
  • ssl.adam.com
  • analesdepediatria.org
  • elsevier.es
  • msdmanuals.com
  • medlinesplus.gov
  • mayoclinic.org
  • medigraphic.com

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