Abstract
The Chedi ak-Higashi (CH) syndrome is an autosomal recessive disorder, associated with oculo-cutaneous albinism, recurrent pyogenic infections, neutropenia, increased bleeding tendency and the occurrence of a “lymphoma-like accelerated” phase. Characteristicly, giant granules are found in all granule-containing cells.
We have examined a patient with the CH-syndrome with defects in chemoactic responsiveness and bactericidal activity of the neutrophils (PMN), in the aggregation of the platelets and in the antibody-dependent lymphocytotoxicity. These defects may be explained by abnormal microtubule assembly and/or membrane fluidity. Administration in vivo or in vitro of ascorbate corrected the elevated cyclic AMP levels and the various functions of the neutrophils, partially corrected the arachidonic-acid-induced platelet aggregation, but had no effect on lymphocytotoxicity. Clinically, a dramatic reduction in the number of episodes with recurrent infections was observed during ascorbate treatment.
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Weening, R., Schoorel, E., Roos, D. et al. 41 THE EFFECT OF ASCORBATE ON SEVERAL BLOOD CELL FUNCTIONS IN THE CHEDIAK-HIGASHI SYNDROME. Pediatr Res 13, 955 (1979). https://doi.org/10.1203/00006450-197908000-00057
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DOI: https://doi.org/10.1203/00006450-197908000-00057