Chediak-Higashi syndrome (CHS) is a rare multiorgan disease entity with 
autosomal recessive inheritance characterized by oculocutaneous albinism, 
bleeding tendency, recurrent bacterial infections and various neurological 
symptoms. Intracellular vesicle formation is deficient, resulting in giant 
granules in many cells, e.g. giant melanosomes in the melanocytes. Diagnosis has 
been based on morphological examination of peripheral blood and bone marrow, 
with giant granules seen in cells of the myeloid lineage and in lymphocytes. The 
ultimate diagnostic test is to look for a mutated LYST gene. Most patients 
develop an accelerated phase of the disease with deposition of lymphohistiocytes 
in the liver, spleen, lymph nodes and bone marrow, resulting in 
hepatosplenomegaly, bone marrow infiltration and haemophagocytosis. Peripheral 
blood neutropenia becomes more profound as anaemia and thrombocytopenia develop. 
Most patients succumb before the age of 10 years. Four patients with CHS are 
described, one of whom is a long-term survivor after successful allogeneic bone 
marrow transplantation, two succumbed during the accelerated phase and one is 
living with a chronic form of the disease.
CONCLUSION: Allogeneic bone marrow transplantation from an HLA-matched sibling 
is the therapy of choice and should be performed early. If there is no matched 
family donor, an unrelated donor or a placental blood graft is a good 
alternative. The clinical picture of CHS is heterogeneous and therapeutic 
decisions need to be made on an individual basis.