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 charac terized by partial albinism and large granules in all granule-containing ce lls. It is also associated with recurrent pyogenic infections secondary to impaired leukocyte function. Most patients with CHS enter an accelerated ph ase that leads to repeated infections and bleeding complications, often res ulting in death. The first accelerated phase may occur shortly after birth or several years later. There are no curative treatments, and bone marrow t ransplantation (BMT) is the treatment of choice. Here, we report the case o f a boy with CHS. The diagnosis was made at the age of 1 month, on the basi s of the characteristic clinical findings and family history. He received B MT from an HLA-matched unrelated donor. After BMT, fluorescent cytometric a nalysis of polymorphonuclear leukocytes showed normalized cellular granular ity and a normal increase in CD11b expression on N-formyl-methionyl-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 fo r those who lack sibling donors. Tn addition to the characteristic leukocyt ic dysfunctions, fluorescent cytometric analysis of cellular granularity an d surface molecules offer useful diagnostic information.