Bone marrow transplantation from an HLA-matched unrelated donor for treatment of Chediak-Higashi syndrome.
Chediak-Higashi syndrome (CHS) is a rare autosomal recessive disease characterized by partial albinism and large granules in all granule-containing cells. It is also associated with recurrent pyogenic infections secondary to impaired leukocyte function. Most patients with CHS enter an accelerated phase that leads to repeated infections and bleeding complications, often resulting in death. The first accelerated phase may occur shortly after birth or several years later. There are no curative treatments, and bone marrow transplantation (BMT) is the treatment of choice. Here, we report the case of a boy with CHS. The diagnosis was made at the age of 1 month, on the basis of the characteristic clinical findings and family history. He received BMT from an HLA-matched unrelated donor. After BMT, fluorescent cytometric analysis of polymorphonuclear leukocytes showed normalized cellular granularity and a normal increase in CD11b expression on N-formylmethionyl-leucyl-phenylalanine stimulation. The accelerated phase did not develop during 27 months of follow-up. Without BMT, CHS is usually fatal before the age of 10 years. BMT from an unrelated donor may be an effective treatment option for those who lack sibling donors. In addition to the characteristic leukocytic dysfunctions, fluorescent cytometric analysis of cellular granularity and surface molecules offer useful diagnostic information.
Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan.
J S
JS
Liang
M Y
MY
Lu
M J
MJ
Tsai
D T
DT
Lin
K H
KH
Lin
D000328:Adult; D016026:Bone Marrow Transplantation; D002609:Chediak-Higashi Syndrome / Q000628:therapy*; D005260:Female; D006801:Humans; D007223:Infant; D016177:Macrophage-1 Antigen / Q000032:analysis; D008297:Male
D016177:Macrophage-1 Antigen