What is Chediak-Higashi Syndrome?

Chediak-Higashi syndrome (CHS; MIM #214500) is a rare, autosomal-recessive disorder characterized by recurrent bacterial infections including pyogenic infections, oculocutaneous albinism that is present to a variable extent, progressive neurologic abnormalities, mild coagulation defects, and a high risk of developing …

What are the symptoms of Chediak-Higashi Syndrome?

What Are the Symptoms of CHS?

• brown or light-colored hair with a silvery sheen.
• light colored eyes.
• white or grayish skin tone.
• nystagmus (involuntary eye movements)
• frequent infections in the lungs, skin, and mucous membranes.

Is Chediak-Higashi Syndrome fatal?

Chédiak-Higashi syndrome (CHS) usually leads to early death from infection or, less commonly, hemorrhage. Intractable respiratory and cutaneous infections usually prove fatal before a child with CHS reaches age 10 years.

How do you treat Chediak-Higashi Syndrome?

There is no specific treatment for Chediak-Higashi syndrome. Bone marrow transplants performed early in the disease appear to have been successful in several patients. Antibiotics are used to treat infections.

Why does Chediak Higashi cause neutropenia?

Neutropenia is an almost constant feature of Chediak-Higashi syndrome (CHS). There is evidence for a central mechanism of neutropenia. Ultrastructural studies of the bone marrow from a child with CHS showed marked autophagic phenomena within myeloid precursor cells and mature neutrophils.

How do you test for Chediak Higashi Syndrome?

The diagnosis of CHS is usually made by the presence of ‘giant granules’ in microscopic analysis of white blood cells. ‘Giant inclusion bodies’ can also be seen in the cells that develop into white blood cells (leukocyte precursor cells) in the bone marrow.

How does Chediak Higashi syndrome affect phagocytosis?

Béguez-Chédiak–Higashi syndrome (CHS) is a rare autosomal recessive disorder that arises from a mutation of a lysosomal trafficking regulator protein, which leads to a decrease in phagocytosis. The decrease in phagocytosis results in recurrent pyogenic infections, albinism, and peripheral neuropathy.

Why does albinism occur in Chediak-Higashi syndrome?

Melanosomes produce and distribute a pigment called melanin, which is the substance that gives skin, hair, and eyes their color. People with Chediak-Higashi syndrome have oculocutaneous albinism because melanin is trapped within the giant melanosomes and is unable to contribute to skin, hair, and eye pigmentation.

How is Chediak-Higashi syndrome inherited?

Chediak-Higashi syndrome is inherited as an autosomal recessive genetic trait. The responsible gene has been mapped to chromosomal locus 1q42. 1-q42. 2 and is known as LYST gene.