Background. Chediak-Higashi syndrome (CHS) is a rare, autosomal recessive 
disorder characterized by oculocutaneous albinism, immunodeficiency, 
coagulopathy and late-onset, progressive neurological dysfunction. It also has 
an "accelerated phase" characterized by hemophagocytic lymphohistiocytosis 
(HLH). The disease is caused by mutations in the CHS1/LYST gene located on 
chromosome 1, which affects lysosome morphology and function. We report the case 
of an African-American child with CHS in Case. This 16-month old 
African-American girl presented with fever and lethargy. The proband had pale 
skin compared to her parents, with light brown eyes, silvery hair and massive 
hepatosplenomegaly. Her laboratory evaluation was remarkable for pancytopenia, 
high serum ferritin and an elevated LDH. Bone marrow aspirate revealed large 
inclusions in granulocytes and erythrophagocytosis consistent with HLH. Genetic 
evaluation revealed two novel nonsense mutations in the CHS1 gene: c.3622C > T 
(p.Q1208X) and c.11002G > T (p.E3668X). Conclusions. Our patient is one of the 
few cases of CHS reported in the African American population. We identified 2 
nonsense mutations in the CHS1 gene, the first mutation analysis published of an 
African-American child with Chediak-Higashi Syndrome. These two mutations 
predict a severe phenotype and thus identification of these mutations has an 
important clinical significance in CHS.