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Chediak-Higashi syndrome - Symptom

Symptoms:

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)

Signs and tests:

The doctor will perform a physical exam. This may show signs of a swollen spleen or liver or jaundice.

Tests that may be done include:

  • Complete blood count, including white blood cell count
  • Blood platelet count
  • Blood culture and smear
  • Brain MRI or CT
  • EEG
  • EMG
  • Nerve conduction tests
  • Reviewed last on: 8/4/2011
  • Chad Haldeman-Englert, MD, Wake Forest University School of Medicine, Department of Pediatrics, Section on Medical Genetics, Winston-Salem, NC. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.

References

Boxer LA. Disorders of Phagocyte Function. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th Ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 129.

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