Cerebral Involvement of Hemophagocytic Lymphohistiocytosis in Griscelli Syndrome

Özet

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.