RASA1-Related Parkes Weber Syndrome in a Neonate
Neonatal Medicine
;
: 126-130, 2018.
Artigo
em Inglês
| WPRIM
| ID: wpr-716553
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.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Malformações Arteriovenosas
/
Artéria Subclávia
/
Trombose
/
Capilares
/
Síndrome de Sturge-Weber
/
Fístula Arteriovenosa
/
Clavícula
/
Angiografia por Ressonância Magnética
/
Mancha Vinho do Porto
/
Extremidade Inferior
Limite:
Humanos
/
Recém-Nascido
País/Região como assunto:
Ásia
Idioma:
Inglês
Revista:
Neonatal Medicine
Ano de publicação:
2018
Tipo de documento:
Artigo
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