Global Medical Genetics (Sep 2024)

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

  • Shiyuan Wang,
  • Jun Li,
  • Ying Li,
  • Xiaoming Liu,
  • Lixian Chang,
  • Beibei Zhao,
  • Li Zhang,
  • Yao Zou,
  • Min Ruan,
  • Xiaofan Zhu

DOI
https://doi.org/10.1055/s-0044-1788043
Journal volume & issue
Vol. 11, no. 03
pp. 214 – 219

Abstract

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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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