Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report.
Successful rescue of a lethal Griscelli syndrome type 2 presenting with neurological involvement and hemophagocytic lymphohistiocytosis: a case report.
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成功抢救表现为神经系统受累和噬血细胞性淋巴组织细胞增多症的致死性 2 型格里塞利综合征：病例报告
DOI：
10.1186/s12887-021-02720-1
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发表时间：
2021-05-31
期刊：
影响因子：
2.4
通讯作者：
Zhang R
中科院分区：
文献类型：
--
作者：
Zhang Q;Zhao YZ;Ma HH;Wang D;Zhang N;Li ZG;Zhang R
研究背景Griscelli综合征2型（GS 2）是一种罕见的由RAB 27 A基因突变引起的常染色体隐性遗传病。其主要特征是部分白化病、噬血细胞性淋巴组织细胞增生症（HLH）或其他免疫缺陷的组合。然而，神经系统的参与在发病GS 2和治疗很少被描述。Case presentationWe描述了一个3岁的男孩与GS 2在亚洲中国家庭。他在发病时持续发热后出现进行性神经系统异常。他在临床过程中发展为HLH。在RAB 27 A基因中发现了一个新的纯合突变（c.1A> G）。然后，他接受HLH-1994方案联合鲁索替尼治疗，并经历了戏剧性的缓解。他随后接受了成功的单倍体相合造血干细胞移植，并留在一个良好的condition.ConclusionsWe报告了一个非典型形式的GS 2表现为严重的中枢神经系统受累的发病和随后的HLH，这是成功地抢救及时。这个病例也强调了在诊断性工作中，需要对不明原因的神经炎症早期考虑HLH的免疫学和遗传学评估。
BackgroundGriscelli syndrome type 2 (GS2) is a rare autosomal recessive disease caused by mutations inRAB27Agene. It is primarily characterized by a combination of partial albinism, hemophagocytic lymphohistiocytosis (HLH) or other immunodeficiency. However, neurological involvement at onset in GS2 and treatment has rarely been described.Case presentationWe describe a 3-year-old boy with GS2 in an Asian Chinese family. He presented with progressive neurological abnormalities following unremitting fever at onset. He developed HLH during the clinical course. A novel homozygous mutation (c.1 A > G) inRAB27Agene was subsequently identified. He was then treated by HLH-1994 protocol combined with ruxolitinib and experienced a dramatic remission. He subsequently underwent a successful haploidentical hematopoietic stem cell transplantation and stayed at a good condition.ConclusionsWe 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.
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影响因子：
6.1
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