Intramural Hematoma of the Esophagus

We report the case of a patient with an intramural hematoma of the esophagus. This rare condition is more common in elderly women and can be misdiagnosed as cardiovascular or other digestive emergent disease. The classical clinical triad includes chest pain, sudden dysphagia or odynophagia and minor hematemesis. Known precipitating factors are Valsalva maneuver, blunt, direct or iatrogenic injuries, but spontaneous cases have also been described. Chest imaging including computed tomography or magnetic resonance imaging as well as upper gastrointestinal endoscopy are useful tools for diagnosis. The treatment is conservative and the prognosis usually excellent with complete resolution within a few weeks. Copyright © 2012 S. Karger AG, Basel

Intramural hematoma of the esophagus

We report the case of a patient with an intramural hematoma of the esophagus. This rare condition is more common in elderly women and can be misdiagnosed as cardiovascular or other digestive emergent disease. The classical clinical triad includes chest pain, sudden dysphagia or odynophagia and minor hematemesis. Known precipitating factors are Valsalva maneuver, blunt, direct or iatrogenic injuries, but spontaneous cases have also been described. Chest imaging including computed tomography or magnetic resonance imaging as well as upper gastrointestinal endoscopy are useful tools for diagnosis. The treatment is conservative and the prognosis usually excellent with complete resolution within a few weeks

Somatic mosaicism and common genetic variation contribute to the risk of very-early-onset inflammatory bowel disease

Very-early-onset inflammatory bowel disease (VEO-IBD) is a heterogeneous phenotype associated with a spectrum of rare Mendelian disorders. Here, we perform whole-exome-sequencing and genome-wide genotyping in 145 patients (median age-at-diagnosis of 3.5 years), in whom no Mendelian disorders were clinically suspected. In five patients we detect a primary immunodeficiency or enteropathy, with clinical consequences (XIAP, CYBA, SH2D1A, PCSK1). We also present a case study of a VEO-IBD patient with a mosaic de novo, pathogenic allele in CYBB. The mutation is present in ~70% of phagocytes and sufficient to result in defective bacterial handling but not life-threatening infections. Finally, we show that VEO-IBD patients have, on average, higher IBD polygenic risk scores than population controls (99 patients and 18,780 controls; P < 4 × 10-10), and replicate this finding in an independent cohort of VEO-IBD cases and controls (117 patients and 2,603 controls; P < 5 × 10-10). This discovery indicates that a polygenic component operates in VEO-IBD pathogenesis