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KMID : 1039920180250030126
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Neonatal Medicine
2018 Volume.25 No. 3 p.126 ~ p.130
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RASA1-Related Parkes Weber Syndrome in a Neonate
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Koh Hong-Ryul
Lee Yeon-Kyung
Ko Sun-Young
Shin Son-Moon
Han Byoung-Hee
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Abstract
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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.
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KEYWORD
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Parkes Weber, RASA1, Neonate
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