Chediak-Higashi syndrome

Chediak-Higashi syndrome

an inherited disease in humans, cattle, Aleutian mink, white tigers and killer whales. There is dilution of color in the hair and ciliary processes of the eye, with large granules, believed to be lysosomes, in all cell types and particularly noticeable in circulating neutrophils and eosinophils. Leukocytes are defective in chemotaxis and intracellular killing. Affected individuals suffer from an increased susceptibility to infection and bleeding tendencies caused by a platelet storage defect.

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Chediak-Higashi syndrome

Chediak-Higashi-Steinbrink syndrome, hereditary leukomelanopathy Molecular medicine A rare AR condition characterized by giant lysosomes and ↑ susceptibility to infections Clinical Partial albinism, lymphadenopathy, hepatosplenomegaly, debilitating neuropathy, photophobia, purulent infections; without BMT most Pts die by age 3 Lab Giant granules in WBCs and platelets, ↓ chemotaxis, bactericidal activity Management BMT, steroids Prognosis Death by age 10