Chédiak-Higashi syndrome is a rare, potentially lethal, multisystemic disorder, characterized by congenital immunocompromise with susceptibility to bacterial infections, a bleeding diathesis, partial albinism affecting the skin and eyes, and gradual neurological decline 2,3.
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Epidemiology
The estimated incidence of Chédiak-Higashi syndrome is approximately one in 1,000,000 births, with approximately 500 documented cases reported worldwide 4.
Clinical presentation
Characteristic features of Chédiak-Higashi syndrome include:
partial oculocutaneous albinism
bleeding diathesis
immune dysfunction
neurodegeneration
risk for development of hemophagocytic lymphohistiocytosis (HLH)
Pathology
Chédiak-Higashi syndrome occurs due to mutations found in the lysosomal trafficking regulator (LYST) gene. It is inherited in autosomal recessive pattern 1.
Treatment and prognosis
A multidisciplinary approach is necessary for its management. Current therapeutic options include antibiotics, chemotherapy, and bone marrow transplantation 3.
History and etymology
Chédiak-Higashi syndrome is named after the French physician Moises Chédiak and the Japanese physician Ototaka Higashi.
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