Chediak-Higashi syndrome

Definition:

An inherited disorder of the immune system that results in chronic infection, neurological disease, and early death.

Causes, incidence, and risk factors:

Chediak-Higashi is inherited as an autosomal recessive disease. The primary defect in this disease is a neutrophil granule defect (an abnormality in the granules found in certain types of white blood cells that are essential for killing some bacteria, fungi, and viruses).

Children who have inherited the disorder have partial albinism, a silvery sheen to their hair, light-colored eyes with red visible in the pupil, jerky eye movements (nystagmus), and increased infections in their lungs, skin and mucus membranes. Surviving adults develop unsteady gaits (ataxia) and nerve abnormalities in the limbs (peripheral neuropathy) causing motor and sensory changes and weakness. Infection with certain viruses such as Epstein-Barr virus (EBV) can cause a fatal illness resembling a blood cancer, lymphoma.