RASA1-Related Parkes Weber Syndrome in a Neonate
Neonatal Medicine
; : 126-130, 2018.
Article
in En
| WPRIM
| ID: wpr-716553
Responsible library:
WPRO
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.
Key words
Full text:
1
Index:
WPRIM
Main subject:
Arteriovenous Malformations
/
Subclavian Artery
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Thrombosis
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Capillaries
/
Sturge-Weber Syndrome
/
Arteriovenous Fistula
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Clavicle
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Magnetic Resonance Angiography
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Port-Wine Stain
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Lower Extremity
Limits:
Humans
/
Newborn
Country/Region as subject:
Asia
Language:
En
Journal:
Neonatal Medicine
Year:
2018
Type:
Article