Accelerated phase in partial albinism with immunodeficiency (Griscelli syndrome): genetics and stem cell transplantation in a 2-month-old girl

A 2-month-old girl presented with fryer. hepatosplenomegaly, pancytopenia, hypertriglyceridaemia and silvery-greyish hair, suggesting the diagnosis of Griscelli syndrome (partial albinism with immunodeficiency). This diagnosi s was confirmed by the characteristic agglomeration of melanin in the hair shaft and accumulation of melanosomes in melanocytes of the skin. The patie nt was homozygous for polymorphic markers around the myosin-Va gene on chro mosome 15q21, which co-localize to the Griscelli disease locus. Natural-kil ler cells were in the lower range. The stimulation of lymphocytes with anti gen and mitogen was normal. The patient's accelerated phase, characterized by haemophagocytosis was treated with prednisolone, rabbit anti-thymocyte g lobulins, and intrathecal methotrexate. Remission was maintained with cyclo sporin A until HLA-compatible peripheral blood stem cell transplantation fr om her mother. Conclusion The silvery-greyish hair associated with fever, pancytopenia and hypertriglyceridaemia is the clue to early diagnosis of Griscelli syndrome and important to prevent death before stem cell transplantation.