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Diagnosis of Chediak-Higashi syndrome
Last reviewed: 04.07.2025
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The diagnosis of Chédiak-Higashi syndrome is based on the detection of characteristic giant granules in neutrophils, eosinophils, and other granule-containing cells in a peripheral blood smear. A bone marrow smear reveals giant inclusions in leukocyte precursor cells that are peroxidase-positive and contain lysosomal enzymes, indicating that these are giant lysosomes or, in the case of melanocytes, giant melanosomes.
Additional signs of leukocyte dysfunction (decreased NK cell activity) are also detected.
Oral x-rays reveal bone destruction and, in most cases, tooth loss.
Computed tomography and magnetic resonance imaging show diffuse atrophy of the brain and spinal cord.
Histological examination of skin samples reveals melanin macroglobules, and examination of periodontal tissues reveals massive bacterial invasion of the epithelium and connective tissue.
Prenatal diagnosis
Prenatal diagnostics can be performed by examining fetal bands (giant melanosomes are detected) with light and electron microscopy, as well as fetal blood leukocytes (giant granules in polymorphonuclear cells are detected). Retrospective studies have shown that lysosomes are also enlarged in amniotic fluid cell cultures and in chorionic villus cells.
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