Diagnosis mystery cells case #16
As you suspected the little girl was diagnosed with Chédiak-Higashi syndrome. The patient had a sister that was a match for a bone marrow transplant, while that will help the functionality of the neutrophils, the patient will be left with peripheral neuropathy.
We found another case report with the Chédiak-Higashi syndrome in the American Journal of Hematology that we thought could be interesting for you, Bone marrow aspirate in Chédiak–Higashi syndrome
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