Therapeutic approaches in Hirschsprung's disease: clinical cases.

Hirschsprung's disease is a congenital disorder characterized by the absence of ganglion cells in the myenteric and submucosal plexuses of the colon, resulting in impaired peristalsis and functional intestinal obstruction. This condition affects approximately 1 in 5,000 newborns, with a higher prevalence in boys. Although first identified in the 17th century, its connection to chronic constipation was clearly established by Harald Hirschsprung in 1886. Contemporary treatment strategies emphasize early diagnosis, surgical excision of the aganglionic segment, and specialized postoperative care to restore normal colonic function and improve the quality of life for affected individuals. This article reviews current therapeutic strategies, highlighting advanced surgical techniques, diagnostic methods, and postoperative management. Two clinical cases illustrate the impact and treatment of the disease. The first case involves a 5-month-old male with severe malnutrition, dehydration, and acute enterocolitis, who underwent a right-side colostomy and later a Duhamel-type extramucosal sphincter-rectal-myotomy, showing favorable progress. The second case is a 1.5-year-old patient with a history of colostomy and ileostomy, requiring further surgery. Histopathological examinations in both cases revealed the absence of ganglion cells, confirming the diagnosis of Hirschsprung's disease.

Novel KIF26A variants associated with pediatric intestinal pseudo-obstruction (PIPO) and brain developmental defects.

Pediatric intestinal pseudo-obstruction (PIPO) is a rare congenital disorder of the enteric nervous system with distal colon aganglionosis potentially leading to intestinal obstruction. Recently, biallelic variants in KIF26A, encoding a crucial motor protein for the migration and differentiation of enteric neural crest cells, have been associated with a neurodevelopmental condition featuring cortical defects and PIPO-like features, though in absence of aganglionosis. So far, only 10 patients have been reported. In this study, we investigated three subjects with congenital hydrocephalus, neurodevelopmental impairment, and intestinal obstruction megacolon syndrome. Brain MRI revealed malformations within cortical dysplasia spectrum, including polymicrogyria and heterotopia. Pathology study of the intestine revealed aganglionosis and elevated acetylcholinesterase activity in parasympathetic nerve fibers. Through trio-exome sequencing (ES), we detected four novel biallelic KIF26A variants, including two missense changes (#1) and two distinct homozygous truncating variants in (#2 and #3). All variants are rare and predicted to be deleterious according to in silico tools. To characterize the impact of the missense variants, we performed 3D protein modeling using Alphafold3 and YASARA. Mutants exhibited increased energy scores compared to wild-type protein, supporting a significant structural destabilization of the protein. Our study expands the genotype and phenotype spectrum of the emerging KIF26A-related disorder.

Biological Mechanisms of Polyphenols against Clostridium Difficile: A Systematic Review.

BACKGROUND: Clostridium difficile is an opportunistic infection that can lead to antibi-otic-associated diarrhea and toxic megacolon. OBJECTIVE: This systematic review study aimed to investigate polyphenols' antibacterial and anti-toxin properties and their effects on reducing complications related to C. difficile Infections (CDI). METHODS: This systematic review was conducted following the PRISMA guideline 2020. Multiple databases, including Web of Science, PubMed, Cochrane Library, EMBASE, and Scopus, were searched thoroughly for existing literature. After considering the inclusion and exclusion criteria for the review, 18 articles were included. Data were collected and registered into an Excel file for further investigations and conclusions. RESULTS: Polyphenols by reducing Reactive Oxygen Species (ROS) levels, increasing inflammatory factor Interleukin 10 (IL-10), reducing Nuclear Factor kappa B (NF-κB) and Tumour Necrosis Fac-tor-α (TNF-α), IL-6, IL-1α, IL-1ß, Granulocyte Colony-stimulating Factor (G-CSF), and Monocyte Chemoattractant Protein-1 (MCP-1) and Macrophage Inflammatory Protein-1 alpha (MIP-1α) lev-els, and regulating the expression of Bcl-2 and Bax, make the growth and replication conditions of C. difficile more difficult and prevent it from producing toxins. Furthermore, polyphenols can ex-hibit prebiotic properties, promoting the growth of beneficial Bifidobacterium and Lactobacillus species and consequently regulating gut microbiota, exerting antimicrobial activities against C. dif-ficile. They also induce their beneficial effects by inhibiting the production of C. difficile TcdA and TcdB. CONCLUSION: Polyphenols have been reported to inhibit C. difficile growth and toxin production by several mechanisms in preclinical studies. However, more clinical studies are needed to investigate their safety in humans.

Case Report: Toxic megacolon secondary to chronic constipation and cocaine consumption.

Toxic megacolon (TM) is a severe condition characterized by acute colonic dilation, with specific radiological and clinical signs. The multifactorial etiology of TM is primarily associated with inflammatory bowel disease and infections. However, TM remains a challenging complication due to its potential for rapid progression to life-threatening conditions. This report describes a rare case of TM in a 25-year-old male with a history of recurrent constipation and chronic cocaine consumption. Examination and imaging indicated acute intestinal obstruction with dilated colon segments and fecal impaction, necessitating an urgent laparotomy. Surgery revealed pan-colonic dilatation and sigmoid perforations, leading to a total colectomy and ileostomy. Chronic constipation, often perceived as benign, can escalate into a critical situation, possibly exacerbated by cocaine-induced muscle weakness and hypoxia. Evidence suggests that cocaine negatively affects the intestinal mucosa, potentially leading to ischemia. Chronic factors, including the use of enemas, may have contributed to megacolon development and perforation. Overall, this report underscores the critical elements of diagnosis and the importance of patients' medical history, particularly those with unusual risk profiles. In addition, it highlights the need for further research to fully understand the implications of these cases.

Surgical Management for Patients with Toxic Megacolon due to Ulcerative Colitis.

Objectives: The present study reviewed cases of Toxic megacolon (TM) treated in our department, summarized the timing and technique of surgery, and considered key points for surgical management. Methods: This single-center retrospective study included the medical records of patients clinically diagnosed with TM who underwent surgery between 1985 and 2020. The diagnostic criteria and screening scores for sepsis, such as the systemic inflammatory response syndrome (SIRS) criteria, quick Sequential Organ Failure Assessment (qSOFA) score, and Modified Early Warning Score (MEWS), were validated. The preoperative clinical features and perioperative findings were also investigated. Results: There were eight male and six female patients. Nine patients (64.3%) satisfied the criteria for toxemia proposed by Narabayashi, and 10 patients (71.4%) fulfilled the SIRS criteria. A positive qSOFA score was confirmed in 1 patient (7.1%). The MEWS was high in 2 patients (14.3%). Intestinal perforation occurred in 2 patients (14.3%), and 1 of them died from disseminated intravascular coagulation. The mortality rate of TM with perforation was 50%. Eleven patients (78.6%) underwent total colectomy with end ileostomy. Conclusions: TM does not have well-defined diagnostic criteria, in addition to developing sometimes as borderline or fulminant cases, and must be recognized at an early stage, taking various findings into consideration. The criteria proposed by Narabayashi and the SIRS criteria, which met in a high percentage of our cases, are recommended as indicators for determining the toxicity of TM. It is also important to consider surgery in the early stages of TM, even if clinical findings do not meet all the criteria.

Diaphragmatic eventration associated with megacolon: A case report.

INTRODUCTION: Diaphragmatic eventration (DE) associated with gastrointestinal anomalies is rarely reported, and its treatment is not well defined. CASE PRESENTATION: We present a 24-years-old male admitted for cough, dyspnea, and chest pain, all of gradual onset. Chest computerized tomography (CT) and chest x-ray diagnosed diaphragmatic eventration and colonic distension. He underwent surgery via a posterolateral thoracotomy. We found colonic distension which pushed the left hemidiaphragm under intense pressure further into the chest, making immediate diaphragmatic plication via the chest difficult. We managed this by colonic needle decompression followed by resection and plication of the diaphragm. The patient had a satisfactory postoperative recovery with a good respiratory profile and no constipation. At a follow up visit, barium enema showed megacolon with no apparent etiology. He is to have a long-term outpatient follow up. DISCUSSION: Diaphragmatic eventration coexisting with megacolon is rare. Data available suggests supplementary abdominal workup is necessary to better plan the surgery. Surgical correction via an abdominal route tends to be more appropriate in these scenarios. CONCLUSION: In cases of gastrointestinal anomaly associated with diaphragmatic eventration, more careful abdominal consideration is needed to better plan the surgery.

Megacolon diagnosis in pregnancy: A case report and literature review.

Megacolon is a rare clinical condition consisting of an abnormally dilated colon in the absence of mechanical obstruction. Megacolon can complicate pregnancy in terms of maternal morbidity and mortality (volvulus, ileus, systemic toxicity, bowel perforation, sepsis) and obstetrical outcomes (preterm birth, premature rupture of membranes, dystocia). Pregnancy, on the other hand, can exacerbate chronic constipation through hormonal and mechanical mechanisms. A case of megacolon, first detected during pregnancy in an otherwise healthy nulliparous woman, is reported. The diagnosis was suspected on observation of a pelvic mass of unknown aetiology (mean diameter > 10 cm) constricting and dislocating the gravid uterus contralaterally during a routine mid-trimester fetal ultrasound. The diagnostic work-up and management are discussed. Chronic constipation in women of reproductive age should receive greater clinical attention during pre- and periconception care. A multi-disciplinary approach, timely diagnosis and delivery planning are fundamental to ensure favourable outcomes for both the mother and fetus when dealing with megacolon during pregnancy.

Toxic megacolon: a potentially lethal condition. Case report.

Toxic megacolon denotes an abrupt non-obstructive distension of the colon, accompanied by systemic signs of toxicity. Mortality rates can soar as high as 7.9%. While primarily linked with chronic bowel conditions, the incidence attributed to Clostridioides difficile has surged due to the indiscriminate use of broad-spectrum antibiotics. Surgical intervention becomes necessary in the majority of cases. Herein, we illustrate the case of a 50-year-old female presenting with episodic epigastric pain lasting 9 h, vomiting, and watery bowel movements, devoid of peritoneal irritation findings and lacking a history of chronic intestinal inflammation. Under certain circumstances, toxic megacolon may manifest atypically, underscoring the importance of conducting a comprehensive medical history and clinical assessment. Moreover, it is imperative to solicit pertinent paraclinical investigations to address the patient holistically and foster a favorable clinical outcome.

Testing and Diagnosis of Clostridioides difficile Infection in Special Scenarios: A Systematic Review.

INTRODUCTION: Clostridioides difficile infection (CDI) is a clinical and laboratory diagnosis. Populations at higher risk of developing disease require a high clinical index of suspicion for laboratory testing to avoid incorrect assumptions of colonization. Common risk factors include recent antibiotic use, elderly (>65 years old), and immunocompromised patients. C. difficile assays should be ordered in an algorithm approach to diagnose an infection rather than colonization. Screening tests are widely available in hospital systems, but novel molecular testing may aid in diagnosis in patients with inconclusive or discordant antigen and toxin test results.  Methods: Data was extracted from PubMed, Scopus, and Cumulative Index of Nursing and Allied Health Literature (CINAHL) databases based on the keywords "clostridioides difficile", "toxin assay", and "toxic megacolon". The data extracted is based on the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2020 guidelines. A total of 27 reports were included in this systematic review. RESULTS: Testing patients with a significant gastrointestinal surgical history, hypogammaglobulinemia, inflammatory bowel disease, intensive care unit, and immunocompromised patients for CDI is highly recommended. Diarrhea in these subsets of patients requires correlation of clinical context and an understanding of assay results to avoid over- and under-treating. CONCLUSION: CDI should be considered in all patients with traditional risk factors. Heightened clinical suspicion of CDI is required in patients with hypogammaglobulinemia, transplant recipients, patients with gastrointestinal surgical history, and inflammatory bowel disease. Testing should be limited to patients with clinical manifestations of CDI to ensure a high pretest probability for test interpretation. Healthcare workers should adhere to testing algorithms to optimize yield in the appropriate clinical context. Diagnostic assays should follow a sequential, stepwise approach to categorize the toxin expression status of the bacteria accurately.

Bowel Emergencies in Patients With Cancer.

Cancer is the second most common cause of death worldwide. Bowel emergencies in patients with cancer are becoming increasingly more prevalent due to advances in cancer therapy and longer overall patient survival. When these patients present acutely, they are often frail and may have pre-existing co-morbidities. This article discusses the imaging features of bowel emergencies commonly encountered in oncological patients in clinical practice. These include chemotherapy related colitis, neutropenia enterocolitis and typhlitis, toxic megacolon, bowel perforation, malignant bowel obstruction and gastrointestinal haemorrhage. The radiologist plays a key role in identifying these oncological emergencies and guiding further management.

Multiple endocrine neoplasia type 2B diagnosed after small intestinal volvulus with progressive megacolon in an adolescent.

Multiple endocrine neoplasia type 2B is a rare autosomal dominant disease characterized by the presence of medullary thyroid carcinoma, pheochromocytoma, Marfan-like fatigue, a peculiar face with thickening of the lips, mucosal neuromas on the lips and tongue, and gastrointestinal phenomena. Most patients harbor pathological variants of the RET gene. Herein, we present the first case of a 14 year-old boy who experienced small intestinal volvulus along with a megacolon, and he was diagnosed with multiple endocrine neoplasia type 2B. The patient complained of constipation since he was 2 years old and slowly progressive abdominal distension at school age. At 14 years of age, he presented with remarkable megacolon mimicking Hirschsprung's disease and complicated with small intestinal volvulus. The volvulus was successfully repaired, and the particularly dilated transverse colon was resected following a rectal biopsy. Histopathological evaluation of the resected transverse colon revealed to be compatible with ganglioneuromatosis. After emergency surgery, the patient was diagnosed with multiple endocrine neoplasia type 2B with medullary thyroid carcinoma, and a de novo variant of RET was confirmed. Gastroenterologists should consider it when treating patients with constipation, especially those with megacolon. Therefore, timely diagnosis may lead to appropriate treatment of medullary thyroid carcinoma and improve mortality.

[A case of disseminated tuberculosis presenting as a metastasizing tumor, complicated by toxic megacolon caused by Clostridium difficile: Difficulties in diagnosis]. / Metasztatizáló tumor képét adó disszeminált tuberkulózis Clostridium difficile okozta toxicus megacolonnal szövodött esete: a diagnózis nehézségei.

A mára ritkán eloforduló tuberkulózis (tbc) extrapulmonális manifesztációi elorehaladott rosszindulatú daganatok képét utánozhatják, jelentos diagnosztikus dilemmákat okozva. A tbc igazolása gyakorta bonyolult, komplex vizsgálatokat igényel. Egy fiatal vietnámi nobeteg esetét ismertetjük, aki idült hasi fájdalom, fogyás, fejfájás, bal oldali hemiparesis miatt jelentkezett kórházunkban. Az urgens vizsgálatok hasi folyadékgyülemek, lymphadenopathia és peritonealis carcinosis képe mellett az uterushoz asszociált ökölnyi kismedencei térfoglaló képletet, intracranialisan agyödémát és metastaticusnak tuno gócokat ábrázoltak. Neurológiai, belgyógyászati, majd pulmonológiai klinikai vizsgálatok és kezelések során eloször disszeminált gynaecologiai tumor, majd meningealis-, miliaris tüdo- és kiterjedt hasüregi-kismedencei érintettséggel járó tbc gyanúja fogalmazódott meg. Bár mycobactérium jelenléte nem volt igazolható, antituberculoticus- és komplex antibiotikus terápiát alkalmaztak. Ennek szövodményeként Clostridium difficile okozta enterocolitis alakult ki. Átmeneti állapotrosszabbodás miatti intenzív osztályos kezelést követoen a beteget visszahelyezték kórházunk belgyógyászatára. Itt toxicus megacolon, acut peritonitis alakult ki, emiatt sürgos mutétet végeztünk.A hasüregben granulomatosus peritonitis encapsulans, extrém tágult, megrepedt taeniájú colon, hyperaemiás vékonybéltraktus, tuboovarialis tályogok voltak láthatók. Oncotomiát követoen salpingo-oophorectomiát és subtotalis colectomiát végeztünk, Brooke szerinti ileostomát készítettünk. Az intenzív osztályos, majd infektológiai kezelésnek köszönhetoen a beteg reconvalescentiája sikeres volt, kielégíto állapotban emittálták. A specimenek valós ideju PCR-vizsgálata során Mycobacterium DNS nem volt detektálható, végül a hasüregi váladék és granulomák mikroszkópos vizsgálatával sikerült saválló pálcákat identifikálni.Az eset kapcsán áttekintjük az extrapulmonális tbc diagnosztikus lehetoségeit és terápiás nehézségeit.

Mediastinal and tracheal shift due to recurrent sigmoid volvulus: A case report.

We hereby present a 70-year-old male Ethiopian farmer who presented with clinical manifestations suggestive of acute large bowel obstruction, which had persisted for 3 days. Over the past 3 years, he has experienced three similar recurring episodes, which were alleviated by decompression using a rectal tube. Upon initial examination, the patient displayed signs of cardiopulmonary distress, although no indications of peritonitis were observed. Further evaluation through plain abdominal and chest X-rays revealed findings consistent with sigmoid volvulus, as well as mediastinal shift, elevated diaphragm, and a right-positioned heart. Consequently, a sigmoid resection and an end colostomy were done. The patient showed improvement and was discharged from the hospital on the 14th day following the surgery. It is atypical for an individual to present with acute sigmoid volvulus accompanied by a mediastinal shift resulting from mass action on the hemidiaphragm. Therefore, it may be imperative to involve a pulmonologist in managing this rare situation. By ensuring that the surgical team is well-informed in such circumstances, patients can receive enhanced care and treatment.

Surgical Emergencies in Inflammatory Bowel Disease.

Inflammatory bowel disease (IBD) patients are at risk for undergoing emergency surgery for fulminant disease, toxic megacolon, bowel perforation, intestinal obstruction, or uncontrolled gastrointestinal hemorrhage. Unfortunately, medical advancements have failed to significantly decrease rates of emergency surgery for IBD. It is therefore important for all acute care and colorectal surgeons to understand the unique considerations owed to this often-challenging patient population.

Severe Sepsis Secondary to Toxic Megacolon Revealing an Inflammatory Bowel Disease.

Patients with inflammatory bowel disease can present with numerous infectious complications, including intra-abdominal abscess, perforations of the intestine, fistula formation, and the occurrence of septicemia. Toxic megacolon (TM) is a potentially fatal complication of inflammatory bowel disease (IBD) and is associated with high morbidity and mortality. In this case report, we report a 49-year-old male patient who was admitted to the intensive care unit for the management of severe sepsis that was secondary to an inaugural toxic megacolon complicating a silent inflammatory bowel disease, with a Lichtiger score of 11. Nonresponse to anti-bacterial therapy, noradrenaline, and intravenous corticosteroid therapy required an emergency total colectomy. After surgery, the patient died because of his unresolved septic shock. Correct management of this condition requires an accurate assessment of the patient's history, a correct physical examination, abdominal radiographs, and sigmoid coloscopy, and frequently requires surgery. The indications for surgery in cases of toxic megacolon, massive hemorrhage, perforation, peritonitis, or non-response to medical therapy are the most important ones. Patients with a history of inflammatory bowel disease are particularly prone to infectious complications since therapy for these inflammatory diseases is based on the use of immunosuppressive drugs and frequent abdominal surgeries.

Megacolon tóxico: A propósito de un caso / Toxic Megacolon. Case Report

RESUMEN El megacolon tóxico es una enfermedad mortal, que se presenta, con mayor frecuencia, como una complicación de la inflamación intestinal, infecciones e isquemia intestinal. Se caracteriza por la presencia de diarrea sanguinolenta, distensión abdominal, signos de toxicidad sistémica y, en estudios de imagen, se observa dilatación colónica segmentaria. Para el diagnóstico, según los criterios de Jalan, se tiene en cuenta la dilatación colónica más de 6 cm, tres de los siguientes: fiebre, taquicardia, leucocitosis o anemia, y cualquiera de los siguientes criterios: hipotensión, hipovolemia, trastorno electrolítico y estado mental alterado. En este artículo, se presenta el caso de una paciente mujer que ingresa por cuadro de dolor abdominal y diarrea crónica con estudio de imagen, en la que se visualiza dilatación de todo el marco colónico. Se realizan los estudios correspondientes y se diagnostica megacolon tóxico por colitis ulcerativa, por lo que recibe tratamiento médico con evolución favorable. Es dado de alta y reingresa por shock séptico, se realizan estudios y se identifica infección por Clostridium difficile. Se inicia tratamiento antibiótico, pero presenta evolución desfavorable, lo que ocasionó el fallecimiento de la paciente. El presente caso representa la alta mortalidad de esta enfermedad.

ABSTRACT Toxic megacolon is a fatal disease, most commonly occurring as a complication of inflammatory bowel disease, infections, and intestinal ischemia. It is characterized by the presence of bloody diarrhea, abdominal distension, signs of systemic toxicity, and segmental colonic dilation is observed in imaging studies. For the diagnosis, according to the Jalan criteria, colonic dilation of more than 6 cm is taken into account, three of the following: fever, tachycardia, leukocytosis or anemia, and any of the following criteria: hypotension, hypovolemia, electrolyte disorder and altered mental status. This article presents the case of a female patient who was admitted with abdominal pain and chronic diarrhea with an imaging study showing dilation of the entire colonic framework. The corresponding studies were carried out which indicated that she had a toxic megacolon due to colitis. ulcerative, receives medical treatment with favorable evolution, is discharged and readmitted for septic shock, studies are performed and Clostridium difficile infection is identified, antibiotic treatment is started but the evolution is unfavorable, which caused the death of the patient. The present case represents the high mortality of this disease.

Ultrashort-Segment Hirschsprung's Disease Complicated by Megarectum and Obstructive Uropathy: A Case Report.

Adult Hirschsprung's disease (AHD) is a rare condition characterized by a shortened aganglionic segment in the distal colon or rectum that is diagnosed after the age of 10. Diagnostic challenges stem from its rarity, nonspecific presentation, and often delayed consideration following emergent interventions. This report details the case of a 33-year-old male who presented with chronic constipation and abdominal pain, leading to a severe bowel obstruction attributed to self-reported Hirschsprung's disease (HD). Clinical, radiological, and historical aspects were suggestive of AHD, but definitive diagnostic procedures, including manometry and biopsy, were hindered by the patient's deteriorating condition. Exploratory laparotomy unveiled a secondary small bowel obstruction due to volvulus, necessitating immediate intervention, resulting in the removal of 4000 cc of fecal material. A comprehensive resection involving mid-to-distal transverse colon, left colon, sigmoid colon, and proximal rectum with the creation of Hartman's colostomy was performed due to the patient's worsening clinical status. We present a case of possible ultrashort-segment Hirschsprung's disease (USHD) and sketch a classic presentation of AHD. This endeavor aims to enhance awareness and consideration of AHD and/or USHD within the spectrum of potential diagnoses for chronic constipation when relevant and demonstrate the effectiveness of surgical intervention in this population.

Hirschsprung Disease: A Literacy Analysis of Patient Information.

OBJECTIVE: Hirschsprung disease in newborns can be a potentially life-threatening condition, with risks for complications such as Hirschsprung-associated enterocolitis. Accessing health information in a readable format for complex diseases demonstrates an important outlet for families to address concerns. While it is important to seek out information from trusted providers, many individuals seek out ways to educate themselves further by using common search engines and turning to the internet. This article will evaluate the readability of relevant articles on Hirschsprung disease and information accessibility to the average health literacy individual. METHODS: A readability analysis of the first 20 Google search results from the keywords "Hirschsprung disease" and "aganglionic megacolon" was performed. Results were documented and averaged using standardized scoring systems. Scoring systems included an Automated Readability Index, Coleman Liau index, SMOG index, Gunning Fog score, Flesch Kinkaid grade level, Flesch Kinkaid reading ease, and average readability across all scoring systems. The number of sentences, number of words, number of complex words, percent of complex words, average words per sentence, and average syllables per word were included as a sample of criteria within scoring systems. RESULTS: The average readability score for the first 20 search results of keywords "Hirschsprung disease" and "aganglionic megacolon" was 9.4, indicating a reading level just above the ninth grade. Readability ease was scored separately due to its unique scoring system on a scale of 0-100. Flesch Kincaid Readability ease score was averaged and resulted in a score of 46.4, which is considered "college level" or "difficult." CONCLUSIONS: The average health consumer will turn to Google to find information about their own health, as well as the health of their loved ones. Hirschsprung disease in newborns presents a complex disease process and can be potentially life-threatening. Current resources available to the average health consumer averaged at a grade level of 9.4 relative to search results from keywords "Hirschsprung disease" and "aganglionic megacolon." Depending on the target audience for online information, more work needs to be done to improve readability for the average health information consumer.

Synchronous colon cancer presenting as toxic megacolon in a patient with ulcerative colitis: A case report.

INTRODUCTION AND IMPORTANCE: The incidence of colorectal cancer in patients with inflammatory bowel disease is greater than the general population. Of those with inflammatory bowel disease, synchronous cancers are more common in ulcerative colitis than in Crohn's disease. It is rare for synchronous cancer to present as toxic megacolon in a patient with concomitant inflammatory bowel disease, specifically ulcerative colitis. CASE PRESENTATION: In this report, we describe the clinical presentation of a 22-year-old female, who presented with toxic megacolon ultimately requiring total abdominal colectomy with end-ileostomy and a final pathology of two synchronous colon cancers, despite normal colonoscopy one year prior. The postoperative period was unremarkable, and the patient was referred to medical oncology to pursue adjuvant treatment. CLINICAL DISCUSSION: Due to the increased incidence of colorectal cancer in patients with ulcerative colitis, screening colonoscopies are typically recommended at more frequent intervals than the general population. Toxic megacolon as the presentation for colon cancer in patients with underlying ulcerative colitis is exceedingly rare. To our knowledge, this is the first case reported of synchronous colon cancer presenting as toxic megacolon in a patient with ulcerative colitis and recent negative screening colonoscopy. CONCLUSION: Colorectal cancer should always be high in the differential diagnosis for patients with ulcerative colitis regardless of the age. The principles of oncologic resection for colorectal cancer should be followed during colonic resections in patients with ulcerative colitis, even in the acute setting.