Journal of The Korean Society of Inherited Metabolic disease (대한유전성대사질환학회지)

The Korea Society of Inherited Metabolic Disease (대한유전성대사질환학회)
권호 표지

Neonatal Mitochondrial Respiratory Chain Defect and Vaginal Embryonal Rhabdomyosarcoma: Possibility of Oncogenesis?

  • Cho, Min Su (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Hur, Jin Ho (Department of Pediatrics, Yonsei University College of Medicine) ;
  • Park, Dae Young (Kojan Yonsei Pediatric Clinic) ;
  • Cho, SiHyun (Department of Obstetrics and Gynecology, Yonsei University College of Medicine) ;
  • Kim, Se Hoon (Department of Pathology, Yonsei University College of Medicine) ;
  • Lee, Young-Mock (Department of Pediatrics, Yonsei University College of Medicine)
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  • 이영목 (연세대학교 의과대학 강남세브란스병원 소아청소년과)
  • Published : 2015.04.25
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Abstract

Mitochondrial disorders are rare metabolic diseases. They often present during neonatal period but with nonspecific clinical features such as feeding difficulties, failure to thrive, and seizures. Mitochondrial defects have also known to be associated with neurological disorders, as well as cancers. We report the first case of neonatal mitochondrial respiratory chain defect with sarcoma botryoides confirmed by pathologic diagnosis, suggesting another possible link between mitochondrial dysfunction and cancer.

Keywords

References

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