Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder. The mutation in the ECGF1 gene causes severe deficiency of thymidine phosphorylase (TP), which in turn increases thymidine and deoxyuridine in the blood, serum, and tissue. The toxic levels of these products cause malfunction of the mitochondrial respiratory chain and mitochondrial DNA. Commonly, patients become symptomatic between 15 and 20 years of age (range 5 months to 35 years). The most commonly affected systems are gastrointestinal, followed by ocular, and nervous system. The disease is often fatal; high mortality rate is reported between 20 and 40 years of age. Treatment modalities that can increase thymidine phosphorylase activity and decrease thymidine and deoxy-uridine have shown symptomatic improvements in patients with MNGIE. Platelet transfusion, hemodialysis, peritoneal dialysis or allogeneic hematopoietic stem cell transplantation (HSCT) have been tried. The survival and long-term benefits of these measures are still not clear. Engrafted patients after stem cell transplantation have showed improvements in serum thymidine and deoxyuridine. We are reporting a case of MNGIE from Saudi Arabia, who underwent allogeneic hematopoietic stem cell transplantation. No MNGIE case has been previously reported from Saudi Arabia or the Gulf Arab countries. From the available literature, so far only 11 patients with MNGIE have undergone stem cell transplantation.

Background/Aim: Solitary rectal ulcer syndrome (SRUS) is a benign, chronic defecation disorder with varied presentations. The aim of this study is to summarize the clinical features, endoscopic findings, histological appearance, and treatment strategies associated with SRUS. Patients and Methods: This is a retrospective study of all patients diagnosed with SRUS at the King Faisal Specialist Hospital and Research Centre in Riyadh from January 2003 to December 2013. Cases were identified using the Department of Pathology database. Data were obtained from medical records that included clinical manifestation, endoscopic findings, and histopathological features. Results: Twenty patients were identified. The mean age was 42.5 years (±18.5) and 55% were females. Most of the patients presented with bleeding per rectum (85%), constipation (75%), and straining (50%), with a mean symptom duration of 26.7 months. The most common associated factors identified were constipation (75%), history of rectal surgery (25%), digital rectal manipulation (20%), and rectal prolapse (20%). Endoscopic findings included a single ulcer (50%) and multiple ulcers (30%); 55% had a polypoidal appearance. On histopathology, there was surface ulceration (95%), fibrosis of the lamina propria (60%), distorted architecture (55%), and muscle hypertrophy with increased mucin production (50%). Patients were treated conservatively and none required surgery. Conclusion: SRUS is a rare disorder with variable clinical presentations. Stool softeners, a high fiber diet in addition to topical mesalamine, and biofeedback proved to be effective in this patient population.

Ehlers Danlos Syndrome (EDS) is a group of rare connective tissue disorders. Gastrointestinal (GI) symptoms such as abdominal pain, nausea, vomiting, bloating and altered bowel habits are common in patients with EDS. Specifically, disorders of gut brain interaction (DGBI) appear to be more common in this patient population. The University Health Network (UHN) has the first and only multi-disciplinary clinic, including specialized gastroenterology services, in Canada for the management of EDS. The aim of this study is to describe the GI symptoms and DGBI that are present in our cohort of EDS patients. A retrospective chart review of all EDS who were seen in the gastroenterologist clinic of the GoodHope EDS clinic at UHN were reviewed from November 1, 2017 to September 26, 2019. Demographic information including age, sex and EDS subtype were collected. GI symptoms that were collected include constipation, diarrhea, fecal incontinence, nausea, vomiting, bloating, abdominal pain, early satiety, heart burn, dysphagia and regurgitation. A physician made diagnosis of irritable bowel syndrome (IBS) was recorded. Descriptive statistics were performed. The charts of 79 EDS patients were reviewed; 4 were excluded due to missing data. 75 patients were included in the final analysis. 93.3% of patients were female with a mean age of 36.4 +/- 12.5 years. Of these 75 patients, 43 (57.3%) had EDS-hypermobile subtype, 13 (17.3%) EDS-classic, 3 (4%) EDS-vascular, 3 (4%) unknown EDS subtype and 13 (17.3%) were categorized as having a hypermobile spectrum disorder. The most common GI symptoms observed in this patient group included abdominal pain in 85.5%, bloating in 64.4%, heartburn in 61.8%, constipation in 57.9%, nausea in 50%, diarrhea 43.4%, dysphagia in 43.4%, regurgitation in 34.2%, early satiety in 32.89%, vomiting in 30.2%,and fecal incontinence in 13.1%. It was also observed that 50.7% (n=38) had a physician made diagnosis of IBS. Of these patients with IBS, 16 (42.1%) had IBS constipation, 12 (31.5%) had IBS mixed, and 10 (26.3%) had IBS diarrhea. Our study demonstrated that GI symptoms are common in patients with EDS. In our cohort, abdominal pain is the most commonly reported GI symptom, though other various GI symptoms are also reported in high numbers. DGBI are also common, with IBS being much more common than what has been reported in the general population. Further studies are needed to better understand the pathophysiology and impact of these GI symptoms and DGBI in patients with EDS. UNH Foundation Goodhope Fund

Background/Objectives: Acute-on-chronic liver failure (ACLF) is a severe syndrome in chronic liver disease (CLD) patients, characterized by multi-organ failure and high mortality. Living donor liver transplantation (LDLT) is vital in donor-scarce areas. This study compares baseline characteristics, perioperative complications, and long-term survival between ACLF and non-ACLF patients, emphasizing etiology, ACLF grading, and graft factors. Methods: Data from a prospective registry of 591 adult LDLT recipients (2019–2023) were analyzed. ACLF was defined by EASL-CLIF (multi-organ failure, grades 1–3) and APASL (jaundice/coagulopathy with complications) criteria, evaluated at initial assessment and within 24 h pre-LDLT. Results: ACLF patients (n = 101, 17.1%) showed higher MELD-Na (27 vs. 20, p < 0.001), bilirubin (6.84 vs. 1.75 mg/dL, p < 0.001), creatinine (108 vs. 70.5 μmol/L, p < 0.001), metabolic/genetic etiologies (9.9% vs. 2.8%, p = 0.001), and chronic kidney disease (23.7% vs. 8.1%, p < 0.001), and lower HCC rates (11.8% vs. 29.6%, p < 0.001). GRWR was marginally lower in ACLF patients (0.59 vs. 0.66, p = 0.10). The ACLF group had elevated infection (27.7% vs. 10.4%, p < 0.001), bleeding (14.9% vs. 6.3%, p = 0.004), and biliary complications (15.8% vs. 7.8%, p = 0.010), with longer ICU (5 vs. 3 days, p < 0.001) and hospital stays (33.66 vs. 20.7 days, p = 0.036). Five-year overall survival was reduced in ACLF patients (log-rank p = 0.001), worsening with grade (EASL-CLIF grade 3: 55% vs. 81% for no ACLF, p = 0.002). Graft survival was also lower (75% vs. 85%, p = 0.02). Multivariable analysis identified chronic kidney disease as an independent mortality predictor (HR 2.09, 95% CI 1.11–3.95, p = 0.023). Conclusions: LDLT for ACLF involves higher perioperative risks and poorer long-term survival than non-ACLF patients, with outcomes deteriorating by ACLF grade. Chronic kidney disease independently predicts mortality. Timely LDLT is essential in donor-limited regions.

Background: Cytomegalovirus (CMV) remains a formidable complication in small bowel transplantation (SBT) due to the graft’s high immunogenicity and profound immunosuppression required, with refractory disease representing a particularly devastating challenge. Case: We report an 18-year-old male who underwent SBT, complicated by recurrent acute rejection episodes requiring intensive immunosuppression. He developed refractory CMV disease, marked by non-response to first line therapy with ganciclovir—despite the absence of genotypic resistance—necessitating sequential use of foscarnet, dual antivirals, CMV immunoglobulin, and novel agents (maribavir and letermovir). Discussion: This case illustrates the multifactorial drivers of refractory CMV disease in SBT recipients, including donor–recipient serostatus mismatch, profound immunosuppression through T-cell-depleting induction, corticosteroid exposure, and biologic therapy. It highlights the distinction between refractory and resistant CMV, and the role of combination antiviral strategies including novel agents to achieve disease control. Outcomes remain dismal despite aggressive and innovative therapies, underscoring the limited efficacy of interventions in the context of severe immunologic compromise. Conclusions: Refractory CMV enteritis in SBT exemplifies the extreme difficulty of balancing viral control with rejection management. Despite exhausting antiviral strategies, survival remains poor. Highlights: Refractory CMV enteritis is a significant challenge in small bowel transplant recipients due to intense immunosuppression. Persistent CMV disease may occur despite antiviral prophylaxis and the absence of resistant gene mutations. Combination antiviral strategies, including maribavir, demonstrated significant clinical improvement. Profound immunosuppression required to manage acute graft rejection episodes complicates antiviral management and disease clearance. Despite best efforts in CMV management in this population, outcomes may still be compromised by unrelated or compounding factors.