Chediac-Higashi anomaly from White Cell and Platelet Disorders: Peripheral Blood Clues to Nonneoplastic Conditions, presented by MediaLab

White Blood Cell Disorders and Platelets:: 3. Atypical Intracellular Granules

Chediac-Higashi anomaly

In 1952 Chediak (a Cuban physician) reported a childhood disorder in which abnormal cytoplasmic inclusions appeared in the neutrophils of four family members. In 1954 Higashi reported a similar abnormality in an 11-month old Japanese infant. These inclusions were identified as lysosomal in origin and found in this rare autosomal recessive disorder
Death was usually related to recurrent infections or hemmorhage though now some of the affected patients live to reproduce.
Ocular and cutaneous albinism, increased susceptibility to pyogenic infections, abnormal granules in neutrophils, and a bleeding tendency are prominent findings.
The striking neutrophilic inclusions appear as coarse intra-cytoplasmic azurophilic granules (see photograph).These granules arise from dilated portions of the Golgi-endoplasmic reticulum lysosomal apparatus.
Aleutian mink and other animals are known to have Chediak-Higashi syndrome. Azurine pelts from infected mink were once prized by coat makers.

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