一名脂蛋白脂酶基因突变的急性淋巴细胞白血病患儿在接受天冬酰胺酶治疗期间出现复发性脑静脉窦血栓。

IF 1.5 Q4 GENETICS & HEREDITY
Global Medical Genetics Pub Date : 2024-07-05 eCollection Date: 2024-09-01 DOI:10.1055/s-0044-1788043
Shiyuan Wang, Jun Li, Ying Li, Xiaoming Liu, Lixian Chang, Beibei Zhao, Li Zhang, Yao Zou, Min Ruan, Xiaofan Zhu
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引用次数: 0

摘要

脑静脉窦血栓(CVST)和高脂血症是天冬酰胺酶(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,我们报告了一名 9 岁的 B-ALL 男孩,他在诱导治疗期间两次出现异常的高甘油三酯血症和 CVST,表现为癫痫发作和意识障碍。幸运的是,他在接受抗凝和降脂治疗后存活了下来。虽然没有检测到血栓相关基因突变,但发现了脂蛋白脂肪酶(LPL)基因的杂合突变。他的神经症状通过短期抗凝治疗和长期降脂治疗得到了控制。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谱和血脂异常及血栓相关基因突变的重要性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

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

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

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

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

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.

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来源期刊
Global Medical Genetics
Global Medical Genetics GENETICS & HEREDITY-
自引率
11.80%
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30
审稿时长
14 weeks
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