DOI QR코드

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RASA1-Related Parkes Weber Syndrome in a Neonate

  • Koh, Hong Ryul (Department of Pediatrics, Cheil General Hospital & Women's Healthcare Center, Dankook University College of Medicine) ;
  • Lee, Yeon Kyung (Department of Pediatrics, Cheil General Hospital & Women's Healthcare Center, Dankook University College of Medicine) ;
  • Ko, Sun Young (Department of Pediatrics, Cheil General Hospital & Women's Healthcare Center, Dankook University College of Medicine) ;
  • Shin, Son Moon (Department of Pediatrics, Cheil General Hospital & Women's Healthcare Center, Dankook University College of Medicine) ;
  • Han, Byoung-Hee (Department of Radiology, Cheil General Hospital & Women's Healthcare Center, Dankook University College of Medicine)
  • 투고 : 2018.05.31
  • 심사 : 2018.07.30
  • 발행 : 2018.08.31

초록

Parkes Weber syndrome is a rare congenital vascular anomaly, related to the RAS p21 protein activator 1 (RASA1) gene. It is characterized by capillary cutaneous malformations, bony and soft tissue hyperplasia, and multiple arteriovenous fistulas throughout the affected upper or lower extremity. These arteriovenous fistulas can be associated with life-threatening complications such as bleeding, thrombosis, and high output heart failure. In this report, we present a neonate who had a disproportionately hypertrophied left upper limb with port-wine stain, dystrophy of the left humerus, and hypertrophy of the left clavicle on X-ray, and arteriovenous malformation and massive dilatation of the left subclavian artery on magnetic resonance angiography. Exome sequencing analysis revealed a novel heterozygous splicing mutation (c.1776+2T>A) in the RASA1 gene. To the best of our knowledge, this report is the first case of RASA1-related Parkes Weber syndrome in Korea.

키워드

참고문헌

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피인용 문헌

  1. A giant arteriovenous malformation and fistula in a newborn with Parkes Weber syndrome. Case report vol.27, pp.2, 2020, https://doi.org/10.15388/amed.2020.27.2.7
  2. Sudden Cardiac Death-A New Insight Into Potentially Fatal Genetic Markers vol.8, pp.None, 2021, https://doi.org/10.3389/fmed.2021.647412