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Idiopathic spontaneous cecal perforation: A rare pathology with high mortality.

ABSTRACT: Introduction: Spontaneous perforation of the colon (SPC) is a rare disease characterized by sudden perforation of a clinically healthy colon in the absence of underlying disease or trauma. The aim of reporting this case is to highlight this surgical emergency in terms of clinical presentations, surgical management and outcomes.

Presentation of case: A 68 year-old male with history of diabetes mellitus, hypertension and chronic constipation on daily laxatives presented to the emergency department with a diffuse abdominal pain and distention for 4 days associated with vomiting and absence of defecation where he was prescribed phosphate rectal enemas. Patient was in sepsis with generalized abdominal tenderness and distention. Intraoperative findings of feculent peritonitis with isolated cecal perforation was identified, for which a right hemicolectomy with end ileostomy was performed.

Discussion: The first case was described in a woman presented with spontaneous rectum rupture by Brodie in 1827, with a less than 100 cases being reported in literature. In 1984, spontaneous perforations were classified into either "stercoral" or "idiopathic" perforations. More than 60% of colonic perforations were reported in the sigmoid or at the recto-sigmoid junction, mainly at the anti-mesenteric border, making spontaneous cecal perforation a very uncommon condition. Cecal perforation is associated with high mortality in the range of 30%-72%.

Conclusion: The outcome of SPC depends on multiple factors like onset of perforation, peritoneal contamination, and time of intervention. Regardless the surgical technique, early detection and surgical management are the main strategies associated with improving the outcomes.

SUBMITTER: Al-Balas H

PROVIDER: S-EPMC7695924 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature

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Idiopathic spontaneous cecal perforation: A rare pathology with high mortality.

Al-Balas Hamzeh H Al-Balas Mahmoud M Al-Wiswasy Mohammad M

Annals of medicine and surgery (2012) 20201121

<h4>Introduction</h4>Spontaneous perforation of the colon (SPC) is a rare disease characterized by sudden perforation of a clinically healthy colon in the absence of underlying disease or trauma. The aim of reporting this case is to highlight this surgical emergency in terms of clinical presentations, surgical management and outcomes.<h4>Presentation of case</h4>A 68 year-old male with history of diabetes mellitus, hypertension and chronic constipation on daily laxatives presented to the emergen ...[more]

PMID: 33294185

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Project description:BackgroundSpontaneous esophageal perforation is a challenging surgical emergency with significant morbidity and mortality, and timely primary repair carries good outcomes. However, direct repair for a delayed spontaneous esophageal perforation is not always feasible and is associated with high mortality. Esophageal stenting can provide therapeutic benefits in the management of esophageal perforations. In this study, we review our experience with placing esophageal stents in combination with minimally-invasive surgical drainage to treat delayed spontaneous esophageal perforations.MethodsWe retrospectively analyzed patients with delayed spontaneous esophageal perforations between September 2018 and March 2021. All patients were treated using a hybrid approach, including esophageal stenting across the gastroesophageal junction (GEJ) to reduce continued contamination, gastric decompression with extraluminal sutures to prevent stent migration, early enteral nutrition, and aggressive minimally-invasive thoracoscopic debridement and drainage of infected material.ResultsThere were 5 patients with delayed spontaneous esophageal perforation treated with this hybrid approach. The mean duration between symptoms and diagnosis was 5 days, and the interval between symptoms and esophageal stent insertion was 7 days. The median time to oral nutrition and to esophageal stent removal was 43 and 66 days. There was no stent migration or hospital mortality. Three patients (60%) had postoperative complications. All patients were successfully resumed on oral nutrition with esophageal preservation.ConclusionsA hybrid approach combining endoscopic esophageal stent placement with extraluminal sutures to prevent stent migration, thoracoscopic decortication with chest tube drainage, gastric decompression, and jejunostomy tube placement for early nutrition was feasible and effective in the treatment of delayed spontaneous esophageal perforations. This technique offers a less invasive treatment approach for a challenging clinical problem which has traditionally carried a high rate of morbidity and mortality.

Project description:ImportanceThe emerging genetic basis of spontaneous coronary artery dissection (SCAD) has been defined as both partially complex and monogenic in some patients, involving variants predominantly in genes known to underlie vascular connective tissue diseases (CTDs). The effect of these genetic influences has not been defined in high-risk SCAD phenotypes, and the identification of a high-risk subgroup of individuals may help to guide clinical genetic evaluations of SCAD.ObjectiveTo identify and quantify the burden of rare genetic variation in individuals with SCAD with high-risk clinical features.Design, setting, and participantsWhole-exome sequencing (WES) was performed for subsequent case-control association analyses and individual variant annotation among individuals with high-risk SCAD. Genetic variants were annotated for pathogenicity by in-silico analysis of genes previously defined by sequencing for vascular CTDs and/or SCAD, as well as genes prioritized by genome-wide association study (GWAS) and colocalization of arterial expression quantitative trait loci. Unbiased genome-wide association analysis of the WES data was performed by comparing aggregated variants in individuals with SCAD to healthy matched controls or the Genome Aggregation Database (gnomAD). This study was conducted at a tertiary care center. Individuals in the Canadian SCAD Registry genetics study with a high-risk SCAD phenotype were selected and defined as peripartum SCAD, recurrent SCAD, or SCAD in an individual with family history of arteriopathy.Main outcomes and measuresBurden of genetic variants defined by DNA sequencing in individuals with high-risk SCAD.ResultsThis study included a total of 336 participants (mean [SD] age, 53.0 [9.5] years; 301 female participants [90%]). Variants in vascular CTD genes were identified in 17.0% of individuals (16 of 94) with high-risk SCAD and were enriched (OR, 2.6; 95% CI, 1.6-4.2; P = 7.8 × 10-4) as compared with gnomAD, with leading significant signals in COL3A1 (OR, 13.4; 95% CI, 4.9-36.2; P = 2.8 × 10-4) and Loeys-Dietz syndrome genes (OR, 7.9; 95% CI, 2.9-21.2; P = 2.0 × 10-3). Variants in GWAS-prioritized genes, observed in 6.4% of individuals (6 of 94) with high-risk SCAD, were also enriched (OR, 3.6; 95% CI, 1.6-8.2; P = 7.4 × 10-3). Variants annotated as likely pathogenic or pathogenic occurred in 4 individuals, in the COL3A1, TGFBR2, and ADAMTSL4 genes. Genome-wide aggregated variant testing identified novel associations with peripartum SCAD.Conclusions and relevanceIn this genetic study, approximately 1 in 5 individuals with a high-risk SCAD phenotype harbored a rare genetic variant in genes currently implicated for SCAD. Genetic screening in this subgroup of individuals presenting with SCAD may be considered.

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Idiopathic spontaneous cecal perforation: A rare pathology with high mortality.

Publications

Idiopathic spontaneous cecal perforation: A rare pathology with high mortality.

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