Medical Definition of Chediak-Steinbrinck-Higashi anomaly

1. An autosomal recessive disorder characterised by the presence of giant lysosomal vesicles in phagocytes and in consequence poor bactericidal function due to deficient secretion of myeloperoxidase by lysosomes. There is some perturbation of microtubule dynamics. There are abnormalities of granulation and nuclear structure of all types of leukocytes with malformation of peroxidase-positive granules, cytoplasmic inclusions, and Dohle bodies, often with hepatosplenomegaly, lymphadenopathy, anaemia, thrombocytopenia, roentgenologic changes of bones, lungs and heart, skin and psychomotor abnormalities, and susceptibility to infection. The condition usually results in death in childhood, before the age of 10. Reported from humans, albino Hereford cattle, mink, beige mice and killer whale. Compare: chronic granulomatous disease. Inheritance: autosomal recessive. Synonym: Beguez Cesar disease, Chediak-Higashi disease, Chediak-Steinbrinck-Higashi anomaly. (21 May 1997)

Lexicographical Neighbors of Chediak-Steinbrinck-Higashi Anomaly

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Chediak-Higashi disease
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Chediak-Steinbrinck-Higashi anomaly (current term)
Chediak-Steinbrinck-Higashi syndrome
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