RASA1-Related Parkes Weber Syndrome in a Neonate
Neonatal Medicine
; : 126-130, 2018.
Article
de En
| WPRIM
| ID: wpr-716553
Bibliothèque responsable:
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.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Malformations artérioveineuses
/
Artère subclavière
/
Thrombose
/
Vaisseaux capillaires
/
Syndrome de Sturge-Weber
/
Fistule artérioveineuse
/
Clavicule
/
Angiographie par résonance magnétique
/
Tache lie de vin
/
Membre inférieur
Limites du sujet:
Humans
/
Newborn
Pays comme sujet:
Asia
langue:
En
Texte intégral:
Neonatal Medicine
Année:
2018
Type:
Article