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October 1981

Picture of the Month

Am J Dis Child. 1981;135(10):949-950. doi:10.1001/archpedi.1981.02130340055018

Denoument and Discussion 

Chédiak-Steinbrinck-Higashi Syndrome 

Manifestations  Chédiak-Steinbrinck-Higashi syndrome is a rare genetic disorder manifested by partial albinism (depigmentation of eye, hair, and skin), large, abnormal granules in leukocytes and other granule-containing cells, frequent pyogenic infections, and intermittent febrile episodes.The giant granules within bone marrow and peripheral blood leukocytes, fibroblast, kidney, reticuloendothelial, and other body cells are due to coalescence of lysosomes. The resulting functional defects in polymorphonuclear leukocytes (eg, intrinsic chemotactic defects and impairment in bactericidal activity) are responsible for the increased incidence of pyogenic infections. Other hematologic findings include anemia, thrombocytopenia, leukopenia, and a relative lymphocytosis. It is not known whether the striking lysosomal abnormalities found in neuronal and neural connective tissues are responsible for the progressive neurologic abnormalities observed in patients with long-stand disease Hair color varies from blonde to dark brown, with a silver tint or frosted-gray sheen caused by abnormal packaging of melanosomes. The skin color may be very light or

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