Chediak-Higashi Syndrome

Synonyms

CHS; Beguez-Cesar disease; Chediak-Steinbrinck-Higashi syndrome; Neutropenia and hyperlymphocytosis with large granular lymphocytes

Definition and Characteristics

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive genetic disorder [1,2] whose clinical and hematological findings were described by Chediak and Higashi. On the other hand, the disorder was first described by Beguez-Cesar [3]. Characteristic features include decreased pigmentation of skin, hair, and eyes, large eosinophilic, peroxidase – positive inclusion bodies in circulating granulocytes and other cell types, neutropenia, and increased susceptibility to infection [2,3]. Other findings are platelet dysfunction with normal microtubules but absent or rare dense bodies, defective granulocyte chemotaxis, abnormal natural killer (NK) cell function, and defective structure or function of melanosomes in melanocytes. A lymphoproliferative histiocytosis (accelerated phase) often leads to death within the first...