Chediak-Higashi Syndrome

Chediak-Higashi Syndrome: Overview

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.

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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:

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.

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Chediak-Higashi Syndrome:

Chediak-Higashi Syndrome can lead to:

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