What is Chédiak-Higashi syndrome (CHS)?

Updated: Aug 08, 2019
  • Author: Roman J Nowicki, MD, PhD; Chief Editor: Dirk M Elston, MD  more...
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Answer

Chédiak-Higashi syndrome (CHS) is a rare childhood autosomal recessive disorder that affects multiple systems of the body. Patients with CHS exhibit hypopigmentation of the skin, eyes, and hair; prolonged bleeding times; easy bruisability; recurrent infections; abnormal natural killer cell function; and peripheral neuropathy. Morbidity results from patients succumbing to frequent bacterial infections or to an accelerated-phase lymphoproliferation into the major organs of the body. The accelerated phase of CHS is termed hemophagocytic lymphohistiocytosis (HLH), and it develops in 50-85% of patients; it is fatal if not treated. Most patients who do not undergo bone marrow transplantation die of a lymphoproliferative syndrome, although some patients with CHS have a relatively milder clinical course of the disease. The adult form of CHS has a milder course, with no lymphohistiocytic infiltration. It is characterized by neurological manifestations such as polyneuropathy, parkinsonism, dementia, N-methyl-D-aspartate (NMDA) receptor encephalitis, [1] and ataxia. [2] In young adults, a combination of these defects with oculocutaneous albinism or recurrent infections should bring CHS into consideration. Diagnosis is established by the presence of characteristic eosinophilic peroxidase-positive giant granules in leukocytes.


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