Neonatal Med.  2018 Aug;25(3):126-130. 10.5385/nm.2018.25.3.126.

RASA1-Related Parkes Weber Syndrome in a Neonate

Affiliations
  • 1Department of Pediatrics, Cheil General Hospital & Women's Healthcare Center, Dankook University College of Medicine, Seoul, Korea. ykleeped@hanmail.net
  • 2Department of Radiology, Cheil General Hospital & Women's Healthcare Center, Dankook University College of Medicine, Seoul, Korea.

Abstract

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.

Keyword

Parkes Weber; RASA1; Neonate
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