Chédiak-Higashi syndrome (patient information)

Chédiak-Higashi syndrome
Overview
What are the symptoms?
What are the causes?
Who is at highest risk?
When to seek urgent medical care?
Diagnosis
Treatment options
Prevention
Where to find medical care for Chédiak-Higashi syndrome?
What to expect (Outlook/Prognosis)?
Possible complications
Prevention
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] Associate Editor(s)-in-Chief: Raviteja Guddeti, M.B.B.S. [2]

Overview

Chediak-Higashi syndrome is rare disease of the immune and nervous systems that involves by pale-colored hair, eyes, and skin.

What are the symptoms of Chediak-Higashi syndrome ?

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