Literature DB >> 30035342

Volatile anesthesia for a child with LPIN1 gene mutation and recurrent rhabdomyolysis.

Richard J Burstal1.   

Abstract

We report the case of a boy with LPIN1 gene mutation presenting for adenotonsillectomy who was successfully managed with preoperative saline and glucose infusion followed by balanced anesthesia including sevoflurane. The anesthetic planning is described as there is no modern literature to guide the perioperative management of these children.
© 2018 John Wiley & Sons Ltd.

Entities:  

Keywords:  child; glucose; humans; mutation; sevoflurane; tonsillectomy

Mesh:

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Year:  2018        PMID: 30035342     DOI: 10.1111/pan.13445

Source DB:  PubMed          Journal:  Paediatr Anaesth        ISSN: 1155-5645            Impact factor:   2.556


  3 in total

1.  Lipin 1 deficiency causes adult-onset myasthenia with motor neuron dysfunction in humans and neuromuscular junction defects in zebrafish.

Authors:  Shuxian Lu; Zhaojie Lyu; Zhihao Wang; Yao Kou; Cong Liu; Shengyue Li; Mengyan Hu; Hongjie Zhu; Wenxing Wang; Ce Zhang; Yung-Shu Kuan; Yi-Wen Liu; Jianming Chen; Jing Tian
Journal:  Theranostics       Date:  2021-01-01       Impact factor: 11.556

2.  LPIN1 rhabdomyolysis: A single site cohort description and treatment recommendations.

Authors:  Navya Kanderi; Brian Kirmse; Debra S Regier; Kimberly A Chapman
Journal:  Mol Genet Metab Rep       Date:  2022-02-05

3.  A rare case of pediatric recurrent rhabdomyolysis with compound heterogenous variants in the LPIN1.

Authors:  Ruochen Che; Chunli Wang; Bixia Zheng; Xuejuan Zhang; Guixia Ding; Fei Zhao; Zhanjun Jia; Aihua Zhang; Songming Huang; Quancheng Feng
Journal:  BMC Pediatr       Date:  2020-05-14       Impact factor: 2.125

  3 in total

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