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Diagnosis of Chediak-Higashi syndrome
Last reviewed: 23.04.2024
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The diagnosis of Chediak-Higashi syndrome is based on the detection in the smear of peripheral blood of characteristic giant granules in neutrophils, eosinophils and other granulosa-containing cells. When examining a bone marrow smear in leukocyte precursor cells, giant inclusions are found that are peroxidazopositive and contain lysosomal enzymes, suggesting that these are giant lysosomes or, in the case of melanocytes, giant melanosomes.
Additional signs of leukocyte dysfunction (decreased activity of NK cells) are also revealed.
Radiography of the oral cavity reveals the destruction of bone tissue and, in most cases, loss of teeth.
Computer tomography and magnetic resonance imaging demonstrate diffuse atrophy of the brain and spinal cord.
When histological examination of skin samples, melanin macroglobules are detected, and the study of periodontal tissues reveals a massive bacterial invasion of the epithelium and connective tissue.
Prenatal diagnosis
It is possible to perform prenatal diagnosis by examining fetal bands (giant melanosomes are detected) with light and electron microscopy, as well as leukocytes of fetal blood (detection of giant granules in polymorphonuclear cells). Retrospective studies have shown that in cultures of amniotic fluid cells, as well as in cells of chorionic villi, the lysosomes are also increased.
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