RASA1-Related Parkes Weber Syndrome in a Neonate.
- Author:
Hong Ryul KOH
1
;
Yeon Kyung LEE
;
Sun Young KO
;
Son Moon SHIN
;
Byoung Hee HAN
Author Information
- Publication Type:Case Report
- Keywords: Parkes Weber; RASA1; Neonate
- MeSH: Arteriovenous Fistula; Arteriovenous Malformations; Capillaries; Clavicle; Dilatation; Exome; Heart Failure; Hemorrhage; Humans; Humerus; Hyperplasia; Hypertrophy; Infant, Newborn*; Korea; Lower Extremity; Magnetic Resonance Angiography; Port-Wine Stain; Sturge-Weber Syndrome*; Subclavian Artery; Thrombosis; Upper Extremity
- From:Neonatal Medicine 2018;25(3):126-130
- CountryRepublic of Korea
- Language:English
- 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.
