Chediak-Higashi syndrome
Key points
- Chediak-Higashi syndrome is an inherited disorder of the immune system that results in chronic infection, decreased pigmentation in skin and eyes, neurological disease, and early death.
- Chediak-Higashi is inherited as an autosomal recessive disease.
- Treatment There is no specific treatment for Chediak-Higashi syndrome.
- The frequent infections of Chediak-Higashi syndrome cannot be prevented.
Definition
Chediak-Higashi syndrome is an inherited disorder of the immune system that results in chronic infection, decreased pigmentation in skin and eyes, neurological disease, and early death.
Causes, incidence, and risk factors
Chediak-Higashi is inherited as an autosomal recessive disease. Mutations have been found in the CHS1 gene. The primary defect in this disease is in intracellular granules. For example, a granule that contains melanin is not made properly in skin giving the pigmentary differences in patients. 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) causes the immune problems.
This is one of a group of disorders called oculocutaneous albinism which means decreased pigment in the eye and skin. Children who have inherited the disorder have partial albinism when compared to family members. There may be a silvery sheen to their hair, light-colored eyes, jerky eye movements (nystagmus), and increased infections in their lungs, skin and mucus membranes.
More serious than the pigmentation problems are the effects of this disease on the immune and nervous systems of the body. 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.
Symptoms
- Jerky eye movements (nystagmus)
- Decreased vision
- Sensitivity to bright light (photophobia)
- Albinism (a lighter complexion than unaffected family members)
- Silvery sheen to hair which may be fair in color
- Frequent infections (skin, oral, respiratory)
- Mental retardation
- Tremor, abnormal walking gait, seizures, numbness
- Muscle weakness
Signs and tests
- Blood smear that shows giant granules in the white blood cells that are positive with stains for peroxidases
- Giant granules are also found in cells from biopsy of skin, muscle, nervous system
- Blood platelet or white blood cell levels are abnormally low
- Physical examination may show enlarged spleen, liver or jaundice
- Genetic testing may show mutations in the CHS1 gene
Written and revised by
Gerald Hurowitz, M.D.
Our doctors write and review articles for accuracy and keep them up to date.
health.am provides general information, not medical advice. Always consult a qualified health professional about your own health.