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 fever, hepatosplenomegaly, pancytopenia, hypertriglyceridaemia and silvery-greyish hair, suggesting the diagnosis of Griscelli syndrome (partial albinism with immunodeficiency). This diagnosis was confirmed by the characteristic agglomeration of melanin in the hair shaft and accumulation of melanosomes in melanocytes of the skin. The patient was homozygous for polymorphic markers around the myosin-Va gene on chromosome 15q21, which co-localize to the Griscelli disease locus. Natural-killer cells were in the lower range. The stimulation of lymphocytes with antigen and mitogen was normal. The patient's accelerated phase, characterized by haemophagocytosis was treated with prednisolone, rabbit anti-thymocyte globulins, and intrathecal methotrexate. Remission was maintained with cyclosporin A until HLA-compatible peripheral blood stem cell transplantation from her mother.


CONCLUSIONS
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.
Baumeister
F A
FA
Kinderklinik und Kinderpoliklinik, Dr. v. Haunerschen Kinderspital der Universität München. u7r11cf@mail.lrz-muenchen.de
Stachel
D
D
Schuster
F
F
Schmid
I
I
Schaller
M
M
Wolff
H
H
Weiss
M
M
Belohradsky
B H
BH
D002884:Chromosomes, Human, Pair 15; D005260:Female; D006200:Hair Color; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007153:Immunologic Deficiency Syndromes / Q000235:genetics / Q000473:pathology / Q000503:physiopathology* / Q000628:therapy; D007223:Infant; D020460:Melanosomes / Q000648:ultrastructure; D010375:Pedigree; D016116:Piebaldism / Q000235:genetics / Q000276:immunology / Q000473:pathology / Q000503:physiopathology*