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Wright stained bone marrow aspirate smear of the patient with Chediak-Higashi. The arrows in the upper right-hand side point to histiocytes engulfing intact red blood cells. The arrows in the lower left indicate fragmented red blood cells (hemophagocytosis).
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The diagnosis of Chediak-Higashi syndrome was promptly determined after review of the peripheral blood smear and bone marrow biopsy (Figures 1 and 2).
Peripheral blood smear of our patient with Chediak-Higashi depicting three polymorphonucelar leucocytes with inclusion bodies. These findings are typical in Chediak-Higashi syndrome.
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The diagnosis of Chediak-Higashi syndrome was promptly determined after review of the peripheral blood smear and bone marrow biopsy (Figures 1 and 2).
Electron microscopy of a neutrophil granulocyte of our patient. The arrows show abnormal large cytoplasmic inclusions.
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Electron microscopy revealed large inclusions in the granulocytes diagnostic of CHS (Figure 3).
Hair shaft samples under high powered light microscopy. (a) African-American control hair sample, demonstrating evenly distributed pigment in the hairshaft. (b) Hair sample of a previously published severely affected Chediak-Higashi syndrome patient, demonstrating an atypical granular distribution of "pigmented clumps" in the hair shaft. (c) Hair sample of our African-American patient with Chediak-Higashi syndrome, demonstrating a similar atypical granular pigmentation pattern as the CHS patient in (b). All images were taken at the same settings using a 40X/1.3 oil objective on an Axiovert200M light microscope.
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Dermatology and genetics specialists assisted in confirmation of the diagnosis based on their clinical findings and the patient's hair analysis (Figure 4).