Chédiak-Higashi syndrome: an accelerated phase with hereditary elliptocytosis: case report and review of the literature.

Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disorder which possibly results from defective regulation of fusion of primary lysozomal granules, with delayed microbial killing. 1,2 The condition is characterized by partial oculocutaneous albinism, frequent pyogenic infections, abnormally large granules in the leukocytes and other granule-containing cells (including platelets, melanocytes, renal tubular cells, pneumocytes, gastric cells, hepatocytes, neuronal cells and fibroblasts). 3-5 About 50%80% of patients with CHS enter into an “accelerated phase,” manifested by fever, jaundice, hepatosplenomegaly, lymphadenopathy and widespread lymphohistiocytic organ infiltrates with hemophagocytosis, leading to pancytopenia, hypertriglyceredemia and hemodilution, and bleeding disorders secondary to low platelet and fibrinogen levels. 3,6,7 Attention to the disease was reportedly first drawn in 1940 by a physician who recognized peculiar leukocytes in a four-year-old Cuban girl and referred her to Dr. Chediak. Subsequently in 1952, Chediak described the full clinical and hematological features in four members of the same family. 8 All the children were similarly affected, exhibiting pale hair and photophobia, with frequent infection and lymphadenopathy, and all died at an early age. It was then that the large inclusion-like granules were noted in the blood and bone marrow granulocytes. 9