scholarly journals Parkes Weber Syndrome with Lymphedema Caused by a Somatic KRAS Variant

2021 ◽  
pp. mcs.a006118
Author(s):  
Whitney Eng ◽  
Christopher L Sudduth ◽  
Dennis J Konczyk ◽  
Patrick J Smits ◽  
Amir H Taghinia ◽  
...  
Keyword(s):  
Vascular Malformation ◽  
Arteriovenous Malformations ◽  
Lymphatic Malformations ◽  
Germline Variants ◽  
Arteriovenous Fistulas ◽  
Weber Syndrome ◽  
Primary Lymphedema

Parkes Weber syndrome is a vascular malformation overgrowth condition typically involving the legs. Its main features are diffuse arteriovenous fistulas and enlargement of the limb. The condition has been associated with pathogenic germline variants in RASA1 and EPHB4. We report two individuals with Parkes Weber syndrome of the leg and primary lymphedema containing a somatic KRAS variant (NM_004985.5:c.35G>A; p.Gly12Asp). KRAS variants, which cause somatic intracranial and extracranial arteriovenous malformations, also result in Parkes Weber syndrome with lymphatic malformations.

scholarly journals Klippel-Trenaunay and Parkes-Weber syndromes: two case reports

2017 ◽  
Vol 16 (4) ◽  
pp. 320-324 ◽  
Author(s):  
Carlos Alberto Araujo Chagas ◽  
Lucas Alves Sarmento Pires ◽  
Marcio Antonio Babinski ◽  
Tulio Fabiano de Oliveira Leite
Keyword(s):  
Magnetic Resonance ◽  
Magnetic Resonance Angiography ◽  
Arteriovenous Malformations ◽  
Case Reports ◽  
Lymphatic Vessels ◽  
Venous Hypertension ◽  
Distinct Entity ◽  
Arteriovenous Fistulas ◽  
Weber Syndrome ◽  
Klippel Trenaunay Syndrome

Abstract Parkes-Weber syndrome is a congenital vascular disease that comprises capillary, venous, lymphatic, and arteriovenous malformations. Although Parkes-Weber syndrome is a clinically distinct entity with serious complications, it is still frequently misdiagnosed as Klippel-Trenaunay syndrome, which consists of a triad of malformations involving the capillary, venous, and lymphatic vessels, without arteriovenous fistulas. Both syndromes are generally diagnosed with Doppler ultrasound and confirmed by magnetic resonance angiography. The aim of this study is to describe one case of Klippel-Trenaunay syndrome, in a 36-year-old patient, and one case of Parkes-Weber syndrome, in a 21-year-old patient. We review the literature in order to discuss the possible causes and consequences of these diseases related to venous hypertension and angiodysplasia, taking a clearer approach to their differences, and discussing their treatment.

Single-hole, ruptured parenchymal arteriovenous fistula of the mesencephalon : Not known vascular malformation of the brain or a posthemorrhagic entity?

2021 ◽  
Vol 74 (3-4) ◽  
pp. 126-128
Author(s):  
Zsolt Kulcsár ◽  
Paolo Machi ◽  
Maria Isabel Vargas ◽  
Karl Schaller ◽  
Karl Olof Lovblad
Keyword(s):  
Arteriovenous Fistula ◽  
Vascular Malformation ◽  
Arteriovenous Malformations ◽  
Red Nucleus ◽  
Brain Parenchyma ◽  
Pial Surface ◽  
Single Hole ◽  
Pseudo Aneurysm ◽  
The Brain ◽  
Spontaneous Haemorrhage

The subtypes of brain arteriovenous malformations, with direct, single-hole fistulas without co-existing nidus are not described as existing entities inside the brain parenchyma but on the pial surface. True parenchymal arteriovenous malformations present with nidal structure, even if they are small, whereas surface lesions may present a direct fistulous configuration. In this case of midbrain haemorrhage a direct arteriovenous fistula was detected at the level of the red nucleus between a paramedian midbrain perforator artery and a paramedian parenchymal vein, with pseudo-aneurysm formation at the fistulous connection, without signs of adjacent nidus structure. The hypothesis whether a pre-existing arteriovenous fistula ruptured or a spontaneous haemorrhage has caused the fistulous connection is discussed.

Brain Arteriovenous Malformations and Arteriovenous Fistulas

2018 ◽  
Vol 50 (2) ◽  
pp. 62
Author(s):  
Awais Z. Vance ◽  
Tarek Y. El Ahmadieh ◽  
Salah G. Aoun
Keyword(s):  
Arteriovenous Malformations ◽  
Arteriovenous Fistulas ◽  
Brain Arteriovenous Malformations

scholarly journals Mutations in the ARAP3 Gene in Three Families with Primary Lymphedema Negative for Mutations in Known Lymphedema-Associated Genes

2020 ◽  
Vol 2020 ◽  
pp. 1-9
Author(s):  
Maurizio Ricci ◽  
Rita Compagna ◽  
Bruno Amato ◽  
Sercan Kenanoglu ◽  
Dominika Veselenyiova ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Next Generation Sequencing ◽  
Lymphatic Vessel ◽  
Small Gtpase ◽  
Gtpase Activating Protein ◽  
Lymphatic Malformations ◽  
Primary Lymphedema ◽  
Cell Adhesion And Migration ◽  
And Migration ◽  
Generation Sequencing

Background. ARAP3 is a small GTPase-activating protein regulator, which has important functions in lymphatic vessel organogenesis and modulation of cell adhesion and migration. Mutations in the ARAP3 gene are associated with impaired lymphatic vessel formation. Objective. The aim of our study was to determine the genotypes of lymphedema patients in relation to variants in the ARAP3 gene in order to explore its role in the development of lymphedema. Methods and Results. We applied next-generation sequencing to DNA samples of a cohort of 246 Italian patients with lymphatic malformations. When we tested probands for known lymphedema genes, 235 out of 246 were negative. Retrospectively, we tested the DNA of these 235 patients for new candidate lymphedema-associated genes, including ARAP3. Three out of 235 probands proved to carry rare missense heterozygous variants in ARAP3. In the case of two families, other family members were also tested and proved negative for the ARAP3 variant, besides being unaffected by lymphedema. According to in silico analysis, alterations due to these variants have a significant impact on the overall structure and stability of the resulting proteins. Conclusions. Based on our results, we propose that variants in ARAP3 could be included in genetic testing for lymphedema.

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