Recurrent Cerebral Venous Sinus Thrombosis Occurred in an Acute Lymphoblastic Leukemia Child with Mutated Lipoprotein Lipase Gene during Asparaginase Therapy.

在天冬酰胺酶治疗期间 ， 脂蛋白脂酶基因突变的急性淋巴细胞白血病儿童发生复发性脑静脉窦血栓。

• 发表时间: 2024 Sep
• 来源期刊: Glob Med Genet
• DOI: 10.1055/s-0044-1788043
• PMID: 38975277
• 文章类型: Case Reports
• 作者列表: Wang S,Li J,Li Y,Liu X,Chang L,Zhao B,Zhang L,Zou Y,Ruan M,Zhu X

关键词: L-Asparaginase; acute lymphoblastic leukemia; cerebral venous sinus thrombosis; gene mutation

Abstract

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.

摘要

脑静脉窦血栓形成（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）的严重并发症。在这里，我们报道了一名9岁的B-ALL男孩,他在诱导治疗期间经历了异常的高甘油三酯血症和CVST,表现为癫痫发作和意识障碍两次.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，但在脂蛋白脂肪酶（LPL）基因中发现了杂合突变。他的神经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的表现和潜在的发病机制，并强调了筛查基线血脂谱和血脂异常及血栓形成相关基因突变的必要性。