一名脂蛋白脂肪酶基因突变的急性淋巴细胞白血病儿童在天冬酰胺酶治疗期间发生复发性脑静脉窦血栓形成。
Recurrent Cerebral Venous Sinus Thrombosis Occurred in an Acute Lymphoblastic Leukemia Child with Mutated Lipoprotein Lipase Gene during Asparaginase Therapy.
发表日期:2024 Sep
作者:
Shiyuan Wang, Jun Li, Ying Li, Xiaoming Liu, Lixian Chang, Beibei Zhao, Li Zhang, Yao Zou, Min Ruan, Xiaofan Zhu
来源:
Experimental Hematology & Oncology
摘要:
脑静脉窦血栓(CVST)和高脂血症是L-天冬酰胺酶(L-Asp)治疗B细胞急性淋巴细胞白血病(B-ALL)期间的严重并发症。在此,我们报道了一名 9 岁 B-ALL 男孩,在诱导治疗期间出现异常高甘油三酯血症和 CVST,两次表现为癫痫发作和意识障碍。幸运的是,他在抗凝和降脂治疗中幸存下来。未检测到血栓形成相关基因突变,但发现脂蛋白脂肪酶(LPL)基因杂合突变。他的神经系统症状通过短期抗凝治疗和长期降脂治疗得到控制。该病例说明了 CVST 的表现和潜在发病机制,并强调了筛查基线血脂和血脂异常及血栓形成相关基因突变的必要性。这是 Thieme 根据知识共享署名许可条款发表的开放获取文章,只要正确引用原始作品,就允许不受限制地使用、分发和复制。 (https://creativecommons.org/licenses/by/4.0/)。
Cerebral venous sinus thrombosis (CVST) and hyperlipidemia are severe complications of L-Asparaginase (L-Asp) during the treatment of B-cell acute lymphoblastic leukemia (B-ALL). Herein, we reported a 9-year-old B-ALL boy who underwent abnormal hypertriglyceridemia and CVST presenting as seizures and disturbance of consciousness twice during the induction therapy. Fortunately, he survived treatment with anticoagulant and lipid-lowering therapy. No thrombophilia-related gene mutation was detected, but a heterozygous mutation in lipoprotein lipase (LPL) gene was identified. His neurological symptoms were managed with short-term anticoagulant therapy and long-term lipid-lowering therapy. This case illustrated the manifestation and potential pathogenesis of CVST and highlighted the essentiality of screening baseline lipid profile and dyslipidemia- and thrombophilia-related gene mutation.The Author(s). This is an open access article published by Thieme under the terms of the Creative Commons Attribution License, permitting unrestricted use, distribution, and reproduction so long as the original work is properly cited. ( https://creativecommons.org/licenses/by/4.0/ ).