A giant arteriovenous malformation and fistula in a newborn with Parkes Weber syndrome. Case report

Abstract

Parkes Weber syndrome (PWS) is a rare congenital condition characterized by capillary cutaneous malformation, limb hypertrophy and multiple arteriovenous fistulas of the affected extremity. Another feature is a port-wine stain on the affected area. PWS is caused by genetic variations in the RAS p21 protein activator (RASA1) gene which affects the development of the vascular system. We report a case of a female neonate presenting with dyspnoea and cardiovascular insufficiency at the time of birth. The left upper extremity (LUE) and shoulder were enlarged (circumference at the midpoint was 17cm compared to 11cm on the right arm), edematous, hyperemic with a port-wine stain. Structural changes of the bones of LUE were discovered on X-ray. Echocardiography revealed right-sided volume overload, a large ductus arteriosus, a possible pathology of the aortic arch and branch arteries. Chest X-rays showed cardiomegaly. Therapy with milrinone and diuretics was started. A multislice CT angiography scan revealed arteriovenous fistula (AVF) between a. subclavia sin. and v. brachiocephalica sin, arteriovenous malformations (AVM) and a dilated a.subclavia sin. of 11 mm, as well as dilatation of other arteries of the LUE. Next generation sequencing revealed a pathogenic variation (c.2245C>T, p.Arg749*) in the RASA1 gene in the heterozygous state. Four consecutive embolizations of the AVM and AVF were performed in the first 16 months.

Pediatric Limb Asymmetry: A Unique Presentation of Angioosteohypertrophic Syndrome

“…Deep malformations encompass aneurysmal dilatation, aplasia, hypoplasia, duplications, and venous insufficiency [ 6 ]. It is noteworthy that upper limb involvement, as observed in our case, is relatively rare compared to lower limb manifestations [ 8 ]. In atypical presentations, PWS may extend beyond limb involvement to potentially affect visceral organs such as the pelvic region, and gastrointestinal tract, or, rarely, solid organs like the spleen, liver, lung, heart, kidney, or facial structures [ 2 ].…”

“…Diagnosis typically relies on clinical manifestations, while imaging is indispensable for evaluating the location and extent of arteriovenous malformations [10]. Doppler ultrasound serves as an initial tool to differentiate between high-flow and low-flow malformation, providing a foundation for further assessment with MRI, which offers detailed insights into musculoskeletal and vascular anomalies [4,8]. Moreover, this syndrome is often confused with Klippel-Trenaunay syndrome until definitive arteriovenous malformations and genetic underpinnings are elucidated [3,6].…”

“…The diagnosis of this syndrome is based on the presence of a distinctive triad comprising arteriovenous fistulas, capillary malformations (known as port-wine stains), and overgrowth of affected limbs [ 3 ]. While its exact cause remains unknown, familial cases have been reported, suggesting a pattern of autosomal dominant inheritance [ 2 , 8 ]. Some cases of PWS exhibit the same genetic anomaly due to a mutation in the RAS p21 protein activator 1 gene (RASA1), which affects vascular system development [ 9 ].…”