Chediak-Higashi syndrome
Incidence
CHS is transmitted as an autosomal recessive trait.
Clinical Characteristics
Chediak-Higashi syndrome (CHS) is a rare, inherited, complex, immune disorder of childhood (usually) characterized by abnormally pale skin and eyes (oculocutaneous albinism). Because the patient's white blood cells (leukocytes) are profoundly affected, especially in their capacity to transport cellular proteins, immune disorders are common, along with an increased susceptibility to infections. In addition, CHS patients tend to bruise and bleed easily. Neurological deficits are also common. In Chediak-Higashi syndrome the symptoms include: a partial lack of hair, skin and eye color, increased susceptibility to infections, deficient natural killer cell activity, susceptibility to malignant lymphoma, and the presence of large intracytoplasmic granulations in various cell types. The symptoms are so severe that most people with Chediak-Higashi syndrome die at an early age. CHS is transmitted as an autosomal recessive trait.
Precipitants
None
Provocation Tests
Any infection may trigger a serious illness.
Diagnostic Procedures
It is usually a clinical pathological diagnosis. Hematological eveluation is most diagnostic. Genetic testing may show mutations in the CHS1 gene. Tests show abnormal immune function.