Neonatal Med.  2018 Aug;25(3):126-130. 10.5385/nm.2018.25.3.126.

RASA1-Related Parkes Weber Syndrome in a Neonate

• Koh HR
• Lee YK
• Ko SY
• Shin SM
• Han BH

• KMID: 2436129
• DOI: http://doi.org/10.5385/nm.2018.25.3.126

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.

Keyword

Parkes Weber; RASA1; Neonate

MeSH Terms

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

Figure

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  Figure 1. Photograph showing an asymmetric hypertrophy of the left upper extremity with an extensive geographic port-wine stain.

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  Figure 2. Radiograph of the left arm shows dystrophy of the left humerus (arrow) and diffuse soft tissue swelling of the left arm and shoulder.

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  Figure 3. Doppler ultrasound of the left arm demonstrates a high velocity waveform (181.3 cm/sec) with increased diastolic flow (arrow) due to an arteriovenous shunt in the upper arm around the humeral head (H).

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  Figure 4. Magnetic resonance angiogram of the left arm shows engorged left subclavian, and axillary arteries (arrow) with their branches including left circumflex humeral arteries, arteries of forearm, and muscular branches (arrowhead).

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  Figure 5. Chromatogram of the patient (proband) and family members for the RAS p21 protein activator 1 (RASA1) gene. Genetic analysis showing the sequence of exon 13 and intron 13 of RASA1, where the mutation was detected in the patient. The mutation is c.1776+2T>A. His parents and brother had no mutation of the gene.

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