Griscelli's syndrome: clinical features of three siblings

Three siblings diagnosed as having 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 intra-vitam in the youngest sibling (propositis) at the age of nine months by the demonstration of irregular clumps of pigment in the hair shaft, and in particular melanocytes engorged with melanosomes in the skin biopsy, findings characteristic of this syndrome. A retrospective diagnosis of GS was made in the older two siblings. The first sibling died at the age of two, having a clinical picture suggestive of bulbar poliomyelitis. However, no tissue was available for histopathologic examination. The second sibling developed fever, jaundice, seizure, hepatosplenomegaly and lymphadenopathy and died at the age of six. Postmortem examination of this sibling revealed lymphohistiocytosis in the liver and spleen. The propositus died at the age of five following development of central nervous system involvement. Immunologic studies were not available in the first sibling. The IgG level was slightly low and the T-lymphocyte number was normal in the second sibling. The propositus had normal serum immunoglobulin levels and T-cell numbers and skin tests were positive with phytohemagglutinin and candida.