[A case of Zellweger syndrome caused by PEX13 gene variation]

Zhonghua Er Ke Za Zhi. 2024 Mar 25;62(4):376-378. doi: 10.3760/cma.j.cn112140-20231219-00441.
[Article in Chinese]

Abstract

患儿 男，11月龄，因“抬头不稳、反应差8个月”入院，表现为抬头不稳、反应能力差、发育停滞、抽搐发作，患儿肝功能异常，父母为近亲婚配，基因检查示c.493G>C纯合变异，分别来源于表型正常父亲和母亲，临床确诊“Zellweger综合征”，予护肝、抗癫痫等治疗，好转出院。.

Publication types

  • Case Reports

MeSH terms

  • Humans
  • Membrane Proteins / genetics
  • Mutation
  • Zellweger Syndrome* / genetics

Substances

  • Membrane Proteins
  • PEX13 protein, human