Chediak-Higashi Syndrome

Excerpt

Chediak Higashi syndrome (CHS) is a rare autosomal recessive condition that was initially described by Beguez-Cesar in1943. Chediak in 1952 and Higashi in 1954 then discovered the maldistribution of myeloperoxidases in the granules of the neutrophils in affected patients.

It is characterized by oculocutaneous albinism, easy bruising, abnormal functions of the natural killer cells, and recurrent pyogenic infections and is a result of a mutation in the lysosomal trafficking regulator (LYST) gene. Individuals also may develop neurological symptoms such as ataxia and neuropathies which could be a predominant feature in the atypical forms of the disease.

The presence of abnormally large intracytoplasmic granules, especially in white blood cells and bone marrow, is diagnostic.

Morbidity is a result of recurrent infections or the development of an accelerated phase where there is lymphoproliferation into major organs. Eighty percent of the deaths occur in the first decade of life, and those who survive into adulthood develop progressive neurological symptoms.

Treatment is with an allogeneic hematopoietic stem cell transplantation. This, however, only cures the hematological and immune dysfunction; it does not stop the progressive neurological impairment.