Cerebral Involvement of Hemophagocytic Lymphohistiocytosis in Griscelli Syndrome
Makaleler > Tam Makale · 2019
Yazarlar: Ersin Töret, Yılmaz Ay, Serap AKSOYLAR, Tuba Hilkay Karapınar, Yeşim Oymak
The Journal of Pediatric Research, Uluslararası, 2019, cilt 6, ss 252-255
DOI: 10.4274/jpr.galenos.2018.33254
Özet
ABS TRACTType 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.