Stephen J. Schueler, M.D.

Overview Symptoms

Chediak-Higashi Syndrome Overview

What is Chediak-Higashi syndrome?
Chediak-Higashi syndrome has a rare inherited disease of the immune and nervous systems. A person with Chediak-Higashi syndrome typically has pale-colored hair, eyes, and skin.

What are the symptoms of Chediak-Higashi syndrome?
Symptoms of Chediak-Higashi syndrome may include, a decrease in vision, sensitivity to bright lights, nosebleeds, easy bruising, nerve problems in the arms and legs, numbness, tremors, seizures, and unsteady walking. Children with Chediak-Higashi syndrome may have albinism (light colored eyes and a silver sheen to the hair), jerky eye movements and increased infections in the lungs, skin and mucous membranes. Additionally, if a child is infected with a virus such as Epstein Barr virus this syndrome may resemble the blood cancer lymphoma.

How does the doctor treat Chediak-Higashi syndrome?
There is no specific treatment for Chediak-Higashi syndrome. Treatment for Chediak-Higashi syndrome usually involves managing disease complications, such as antibiotics for bacterial infections. Surgery may be needed to drain any abscess. Bone marrow transplant has been successful in several patients, if the transplant is preformed in the early stages of the disease.

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