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Type II Griscelli Syndrome (GS) is caused by a mutation in the RAB27A gene and usually manifests with silvery-gray hair, immune deficiency and the development of hemophagocytic lymphohistiocytosis (HLH). A hematopoietic stem cell transplantation is the curative treatment for HLH and reduced-intensity conditioning prevents the morbidity/mortality in the transplantation related to myeloablative conditioning. We report on a 21-month old boy with cerebral involvement of HLH related to GS.

Griscelli syndrome (GS) is an autosomal recessive disorder that is characterized by partial albinism of the skin and hair shaft. Prompt and early diagnosis is a crucial step for the follow up and management of GS, which would otherwise dramatically decrease the life expectancy of the patients. This case report presents the clinical course of a femoral fracture treated with closed reduction and pelvic-pedal cast, and progression of acute phase reaction during the follow up period. [ABSTRACT FROM AUTHOR]