Chediak-Higashi Syndrome

Alternative names: Chediak-Steinbrinck-Higashi Syndrome, CHS, Oculocutaneous Albinism with Leukocyte Defect

Chediak-Higashi syndrome is a very rare childhood disease of the immune and nervous systems that affects multiple systems of the body.

CHS damages immune system cells, leaving patients prone to repeated and persistent infections starting in infancy or early childhood.  These infections tend to be very serious or life-threatening.

Incidence; Causes and Development

Only about 200 cases of this condition have been reported worldwide.

CHS is an inherited condition.

Signs and Symptoms

Signs and symptoms include:

• Albinism (light-colored hair, often with a silver sheen; light-colored skin and eyes)
• Increased incidence of infections in the lungs, skin, and mucous membranes
• Increased incidence of certain viral infections such as Epstein-Barr virus
• Rapid, involuntary eye movements
• Vision problems such as reduced sharpness
• Sensitivity to bright light
• Poor mental function
• Muscle weakness
• Difficulty walking
• Clumsiness
• Seizures
• Tremors
• Numbness
• Peripheral neuropathy
• Nosebleeds and prolonged bleeding
• Bruising susceptibility
• Recurring infections

Diagnosis and Tests

Physical examination may show a swollen spleen or liver, or jaundice (yellow-tinged skin).  If CHS is suspected, the following tests maybe used:

• Complete blood count, including white blood cell count
• Blood platelet count
• Blood culture and smear
• Brain MRI or CT scan
• EEG
• EMG
• Nerve conduction tests

Treatment and Prevention

There are few treatments for Chediak-Higashi syndrome.  However, bone marrow transplants have been reported as being successful in some patients, especially when performed early.

If the disease is not successfully treated, most children with Chediak-Higashi syndrome reach a stage of the disorder known as the accelerated phase, thought to be triggered by a viral infection: white blood cells (which normally help fight infection) divide uncontrollably and invade many of the body's organs.

Antibiotics are used to treat infection; antiviral drugs and chemotherapy drugs can be used in the accelerated phase of the disease; surgery may be needed to drain abscesses.

Prognosis; Complications

Many of the afflicted children die before age 10 from chronic infections or accelerated disease that results in lymphoma-like illness.

The accelerated phase is associated with fever, episodes of abnormal bleeding, overwhelming infections, and organ failure.  These medical problems are usually life-threatening in childhood.