Griscelli's syndrome: Clinical and immunological features of two siblings

Two siblings diagnosed with Griscelli's syndrome (GS) are presented. The clinical features were partial albinism, silvery hair and absence of giant granules in the white blood cells. The diagnosis of GS was confirmed at the ages of nine months and two months by the demonstation of irregular clumps of pigment in the hair shaft, a finding characteristic of this syndrome. The patients had hepatosplenomegaly and bone marrow examinations revealed Iymphohistiocytosis. Immunological studies revealed normal serum immunoglobulin levels and normal T and B Iymphocyte counts. Skin tests were positive for phytohemagglutinin and PPD in the first patient. Phagocytosis was studied by flow cytometry using Mo Ab (DCFH, PMA oxidative burst, Coulter) in the second sibling and it was found as normal. Splenectomy was performed in the second sibling because of excessive splenomegaly at the age of six months but she died two months later. The first sibling died at the age of 18 months because of infection. Postmortem examination of the siblings revealed Iymphohistiocytosis in the liver and spleen.