Williams or Williams-Beuren syndrome (WBS) is a developmental disorder with multisystemic manifestations characterized by distinctive facial features, mental disability with unique cognitive and personality profiles, vascular stenoses, growth retardation, and occasional infantile hypercalcemia, caused by haploinsufficiency for genes deleted in chromosome band 7q11.23. However, with the exception of arterial stenoses caused by haploinsufficiency for the elastin gene (ELN), no specific implication of any other gene in the phenotype has been established. We present two patients with portal hypertension leading to splenomegaly and pancytopenia carrying the common 1.5 Mb WBS deletion. We propose this is an additional severe vascular complication of ELN deficiency and discuss the specific characteristics of the portal venous tract that could explain the impact of ELN deficiency in that venous territory. This complication is potentially lethal and should thus be considered in any patient with WBS and splenomegaly.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/ajmg.a.10205 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Simultaneous pancreas-kidney (SPK) transplantation is a recognized treatment for patients with insulin-dependent diabetes and advanced chronic kidney disease or end-stage renal disease (ESRD), offering significant survival benefits. However, it is associated with a higher risk of venous thrombosis, which can jeopardize the survival of the pancreaticoduodenal graft. This case report describes a patient with type 2 diabetes, hypertension, and ESRD who developed acute, occlusive deep vein thrombosis (DVT) involving the right common femoral, profunda femoral, and greater saphenous veins on postoperative day 1 (POD1) following a deceased donor SPK transplant, despite systemic prophylactic anticoagulation.
View Article and Find Full Text PDFPulmonary hypertension post-liver transplant: A case report.
World J Gastrointest Surg
December 2024
Department of Liver and Small Bowel Health, King Faisal Specialist Hospital and Research Centre, Riyadh 11211, Saudi Arabia.
Background: Liver transplantation (LTx) is vital in patients with end-stage liver disease, with metabolic dysfunction-associated steatotic liver disease being the most common indication. Primary sclerosing cholangitis (PSC) is an important indication. Portopulmonary hypertension, associated with portal hypertension, poses a significant perioperative risk, making pretransplant screening essential.
View Article and Find Full Text PDFThe Natural History of Portal Venous System Aneurysms.
J Vasc Surg Venous Lymphat Disord
December 2024
Division of Vascular Surgery, UPMC, Pittsburgh, Pennsylvania; Department of Surgery, University of Pittsburgh, Pittsburgh, Pennsylvania. Electronic address:
Background: Portal venous system aneurysms (PVA) are increasingly diagnosed on cross-sectional computed tomography (CT) imaging. However, the natural history of these aneurysms is poorly understood and reports are limited to small case series.
Methods: Terms relevant to PVA were searched in radiology reports (2010-2022) with PVA presence confirmed by manual review.
Hemodynamic comparisons of different shunt positions and geometrical model simplification strategies in the simulation of transjugular intrahepatic portosystemic shunt (TIPS).
Sci Rep
December 2024
School of Gongli Hospital Medical Technology, University of Shanghai for Science and Technology, No. 516 Jungong Road, Yangpu District, Shanghai, 200093, China.
Transjugular intrahepatic portosystemic shunt (TIPS) is a widely used surgery for portal hypertensive patients, whose potential postoperative complications are closely related to the hemodynamic condition of the portal venous system. The selection of shunt position in the surgery may affect the postoperative hemodynamics; however, it is difficult for clinical studies to investigate the influence. Therefore, this study aims to employ the computational model simulating TIPS to compare the hemodynamic differences resulting from different shunt positions, and also to investigate the influences of different geometrical model simplification strategies used in the TIPS simulation.
View Article and Find Full Text PDFLife-Threatening Esophageal Variceal Hemorrhage in a 7-Year-Old Boy with Massive Portal Vein Enlargement Due to Congenital Arterioportal Fistula.
Am J Case Rep
December 2024
I Department of Radiology and Diagnostic Imaging, Norbert Barlicki Memorial Teaching Hospital No. 1, Medical University of Łódź, Łódź, Poland.
BACKGROUND Arterioportal fistulas (APFs) are abnormal connections between the arterial and portal venous systems, leading to portal hypertension (PH) and symptoms such as gastrointestinal bleeding, splenomegaly, and hepatic pain. Symptoms typically appear by the age of 2 years in about 75% of cases. CASE REPORT A 7-year-old boy with an asymptomatic APF developed life-threatening complications following a Clostridium difficile infection.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!