Year: 2006
Type: article
Study design: Case Report
Abstract: We describe a 7 year old male with a history of Chediak-Higashi syndrome who received a matched unrelated cord stem cell transplantation in the accelerated phase and achieved complete donor engraftment after initial partial chimerism. Chediak-Higashi syndrome is a rare autosomal disease characterized by partial oculocutaneous albinism, recurrent bacterial infections, mild bleeding diatheses, and both central and peripheral neuropathies. In late childhood, these patients develop an accelerated phase characterized by pancytopenia, hepatosplenomegaly, and lymphocytic infiltrates. Death associated with the accelerated phase is secondary to infection and hemorrhage. The diagnosis of Chediak-Higashi syndrome is made by microscopic visualization of the giant cytoplasmic granules in leukocytes or abnormal giant melanosomes in hair shafts. Curative treatment entails bone marrow transplantation. Hematopoietic chimeras have been documented with clinical improvement, particularly being free of the accelerated phase. Our patient demonstrated chimerism at 30 days post-transplantation. The DNA fingerprinting analysis at this time showed 30% donor and 70% recipient cells in the marrow. The neutrophils on the peripheral blood smear, which contained large purplish inclusion bodies, were far fewer than the number of normal neutrophils. At day 77, the peripheral smear showed normal neutrophils and no granulated leukocytes. Repeat bone marrow biopsy at 84 days post-transplant showed complete engraftment; 90% donor marrow. Although hematopoietic chimerism may result in significant clinical improvement of patients with Chediak-Higashi, there may be further self-selection for normal marrow cells over abnormal cells even after the initial engraftment of bone marrow transplantation.
Language: English
Subfield: Immunology
Field: Immunology and Microbiology
Domain: Life Sciences
Open Access status: hybrid
Estimated APC paid: $3,650
OpenAlex ID: W2038593176