title: Chédiak-Higashi syndrome in a Venezuelan black child.
abstract: One case of Chédiak-Higashi syndrome (CHS) in a black male child, born to a consanguineous couple from a rural village in the State of Falcón, is described. At birth the child had marked skin depigmentation and ash-gray hair. A few months later he developed an almost normal black skin color. The diagnosis of CHS was established by the presence of large peroxidase-positive granules in his leukocytes. Neutrophils showed decreased chemotaxis and lack of digestive capacity against Candida albicans. Unusual features included extreme rarity of CHS in blacks, progressive repigmentation of the skin, and an early benign evolution. A high consanguinity index in the village from which this patient originated raised the possibility of the presence of a new cluster of this disease in Venezuela.
mesh_terms: D001741:Black or African American; D044383:Black People; D002609:Chediak-Higashi Syndrome / Q000453:epidemiology* / Q000235:genetics / Q000473:pathology; D003241:Consanguinity; D003594:Cytoplasmic Granules / Q000648:ultrastructure; D005808:Genes, Recessive; D006801:Humans; D007231:Infant, Newborn; D007962:Leukocytes / Q000648:ultrastructure; D008297:Male; D014687:Venezuela