Chediak Higashi Syndrome (CHS) is a rare inherited disorder characterized by an abnormal function of certain cells in the body, including granulocytes, which are a type of white blood cells. This autosomal recessive condition is caused by mutations in the LYST gene, affecting the formation and functioning of lysosomes within cells.
Individuals with CHS exhibit a variety of symptoms, primarily affecting the immune system, skin, hair, eyes, and nervous system. The impaired lysosomal function in the cells leads to recurrent infections due to compromised immune response and reduced ability to kill bacteria. Skin manifestations include pale skin, easy bruising, and delayed wound healing.
Affected individuals typically present with silvery-gray hair, due to an abnormal accumulation of large pigment granules within hair shafts. Ocular abnormalities are also common, such as photophobia, nystagmus, and reduced visual acuity, due to the presence of giant melanosomes within cells of the eyes. In addition, individuals with CHS may experience neurological symptoms including developmental delay, intellectual disability, and seizures.
Diagnosis of CHS involves clinical evaluation, blood tests, and molecular genetic testing to detect mutations in the LYST gene. Treatment primarily focuses on managing infections and complications, involving the use of antibiotics, antiviral medications, and immunoglobulin replacement therapy. In certain cases, allogeneic hematopoietic stem cell transplantation may be considered as a curative treatment option.
In summary, Chediak Higashi Syndrome is a rare genetic disorder affecting various body systems due to abnormal lysosomal functioning within cells. Treatment mainly involves symptomatic management and addressing complications associated with the condition.