Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report.
Qing ZhangYun-Ze ZhaoHong-Hao MaDong WangNan ZhangZhi-Gang LiRui ZhangPublished in: BMC pediatrics (2021)
We reported an atypical form of GS2 manifesting as severe central nervous system involvement at onset and subsequent HLH, which was successfully rescued in time. This case also highlights the need for early consideration of immunologic and genetic evaluation for HLH in unexplained neuroinflammation in the diagnostic work up.