A female in her 70s with a history of rectal cancer resection presented with acute abdominal and pelvic pain following persistent coughing, resulting in a perineal mass. Clinical examination revealed eviscerated loops of congested small bowel through a posterior vaginal wall defect, beyond the introitus. She underwent emergency laparotomy, with combined transabdominal and vaginal reduction of the eviscerated small bowel and repair of posterior vaginal wall defect within 4 hours of presentation. Prompt intervention avoided the need for bowel resection. The patient was discharged on postoperative day 5, commenced on topical vaginal oestriol cream and subsequent urogynaecological follow-up demonstrated a well-healed vault with no initial recurrence of vaginal prolapse. Conservative management was agreed following multidisciplinary team discussion. This case highlights the importance of considering transvaginal evisceration in postmenopausal women with previous pelvic surgery and radiotherapy and the potential use of vaginal oestrogen following repair of vaginal wall defects.

Adherent-invasive Escherichia coli (AIEC) are strongly implicated in the pathogenesis of Crohn's disease, but the virulence factors driving their invasive and pro-inflammatory behavior remain incompletely defined. Here, we demonstrate that vitamin B12 availability modulates pdu-dependent AIEC virulence. The 1,2-propanediol utilization (pdu) operon, which requires vitamin B12 as a cofactor, has previously been associated with bacterial virulence. Here, we validated this association and demonstrated its functional relevance in mouse models of colitis. Deletion of pduB, a structural component of the pdu microcompartment, in the prototypical AIEC strain NRG857c impaired invasion of intestinal epithelial cells without affecting bacterial growth, biofilm formation, or intestinal colonization. In contrast, pduB deletion reduced mucosal association and significantly attenuated colitis in Il10[-/][-] mice. Moreover, loss of pduB protected against AIEC-induced epithelial barrier dysfunction and reduced expression of pro-inflammatory cytokines, including Il6, Il1b, and Tnf-a. Unexpectedly, pduB deletion was associated with elevated host serum vitamin B12 levels, and exogenous vitamin B12 supplementation directly inhibited AIEC invasion in vitro and effectively protected Il10[-/][-] mice from AIEC-induced colitis. Furthermore, vitamin B12-mediated suppression of AIEC invasion and barrier dysfunction was dependent on an intact pdu pathway. Together, these findings establish pduB as a key regulator of AIEC virulence. Our findings identify vitamin B12 availability as a host-modifiable factor that influences AIEC pathogenicity, suggesting potential therapeutic strategies for AIEC-driven intestinal inflammation in Crohn's disease.

Chronic ketamine misuse is a well-recognized cause of ketamine-induced uropathy (KIU), characterized by severe lower urinary tract symptoms and markedly reduced bladder capacity. Its potential association with anorectal dysfunction remains poorly described. We report two young adults with KIU who developed progressive pelvic floor dysfunction and anorectal pathology ranging from pelvic floor dyssynergia and internal rectal intussusception to full-thickness rectal prolapse (RP). Both patients experienced severe urinary frequency, suprapubic pain, and chronic straining to void. One patient developed solitary rectal ulcer syndrome with Grade III internal rectal intussusception, while the other developed full-thickness RP requiring colorectal assessment. These two case reports suggest a possible association between chronic ketamine misuse, severe urinary tract dysfunction, and secondary pelvic floor strain with subsequent anorectal pathology. Clinicians managing KIU should be alerted to evolving anorectal symptoms, and recreational ketamine use should be considered in young adults presenting with RP.

16p11.2 microduplication syndrome (OMIM #614671) is a pathogenic recurrent copy-number gain at the 16p11.2 locus and is associated with variable expressivity across neurodevelopmental, growth, and medical phenotypes. Gastrointestinal symptoms have been reported in carrier cohorts, but detailed documentation of gastrointestinal motility and neuromuscular findings remains limited. We performed clinical and genetic analyses in a multigenerational family in which the proband (III1) presented with limb muscle pain, exercise intolerance, and chronic gastrointestinal symptoms. Next-generation sequencing (NGS), low-pass whole-genome sequencing (lpWGS)-based CNV analysis, Sanger sequencing, and qPCR validation identified a 0.8 Mb microduplication at 16p11.2 (BP4-BP5), involving 44 genes including TBX6, inherited from the mother (II2). The proband's clinical manifestations included developmental delay, pointed chin, low body mass index, gastrointestinal dysfunction (chronic abdominal pain, diarrhea, esophageal motility disorder, and rectal prolapse), forward-leaning gait, mild scoliosis, and limb muscle atrophy with inflammatory muscle involvement. Four family members (II2, III1, III2, and III4) carried the microduplication, but their available clinical features varied in severity and system involvement. The proband's twin brother (III2) had left ear deafness and epilepsy, individual II2 had blindness from cone-rod dystrophy, and III4 showed more pronounced scoliosis. This family provides a detailed clinical and genetic description of 16p11.2 microduplication carriers with prominent gastrointestinal motility and neuromuscular manifestations, thereby enriching the clinical characterization of this recurrent CNV and supporting substantial intrafamilial phenotypic heterogeneity.

Solitary rectal ulcer syndrome (SRUS) is a rare benign disorder of the rectum strongly associated with chronic straining and rectal mucosal prolapse, which may be overt or occult. Its endoscopic appearance is highly variable, and atypical presentations can create significant diagnostic challenges, particularly in immunocompromised patients in whom infectious etiologies must be systematically excluded. We report a case of SRUS presenting as simultaneous contralateral kissing rectal ulcers in an HIV positive patient. Histopathology demonstrated the characteristic triad of fibromuscular obliteration of the lamina propria, smooth muscle extension between distorted crypts, and muscularis mucosae hypertrophy, establishing occult internal mucosal prolapse as the underlying mechanism. Comprehensive infectious evaluation including targeted testing for cytomegalovirus, herpes simplex virus, Neisseria gonorrhoeae, and Chlamydia trachomatis including lymphogranuloma venereum serovars was entirely negative. The patient achieved complete symptomatic resolution on conservative therapy with psyllium fiber supplementation at 2-month follow-up. This case illustrates an uncommon endoscopic presentation of SRUS, the diagnostic importance of histopathology in the absence of visible mucosal prolapse, and a systematic infectious exclusion approach in an HIV positive patient that may serve as a clinical reference for similar presentations.

Pediatric intestinal pseudo-obstruction (PIPO) is a rare, severe gastrointestinal motility disorder characterized by recurrent symptoms of bowel obstruction in the absence of a mechanical cause. Although most pediatric cases are attributed to primary neuromuscular abnormalities, secondary inflammatory disorders should be considered when symptoms are progressive, refractory to conventional therapy, or associated with peripheral eosinophilia and atopic disease. Localized eosinophilic ileitis is an uncommon manifestation of eosinophilic gastrointestinal disease (EGID) and rarely presents as secondary PIPO, making diagnosis particularly challenging. We describe a four-year-old Hispanic boy with a history of egg allergy, atopic dermatitis, lactose intolerance, chronic constipation, progressive abdominal distension, anemia, and peripheral eosinophilia who developed recurrent intestinal pseudo-obstruction beginning at two years of age. Hirschsprung disease was excluded by both rectal suction biopsy and subsequent full-thickness rectal biopsy, each demonstrating normal ganglion cells. Persistent symptoms despite maximal medical therapy prompted creation of an end ileostomy for bowel decompression, which required conversion to a loop ileostomy after early prolapse. During the following two years, the patient experienced recurrent ileostomy prolapse requiring multiple operative revisions. Previous surgical specimens demonstrated ischemic and inflammatory changes without eosinophilic infiltration. Because of persistent obstructive symptoms and recurrent prolapse, definitive ileostomy reversal was performed. Intraoperatively, the prolapsed ileal segment appeared erythematous, mildly thickened, and friable, while the remaining bowel appeared grossly normal. Histopathologic examination of the resected specimen demonstrated focal patchy intramucosal eosinophilia exceeding 70 eosinophils per high-power field, establishing the diagnosis of localized eosinophilic ileitis after exclusion of secondary infectious causes. No eosinophilic infiltration had been identified in previous rectal or ileostomy specimens. The patient experienced rapid postoperative recovery and remains asymptomatic 12 months after surgery without recurrent pseudo-obstruction or prolapse. This case highlights the diagnostic challenges posed by localized eosinophilic ileitis, demonstrates the limitations of negative biopsies obtained from uninvolved bowel, and emphasizes the importance of considering EGID in children with refractory intestinal dysmotility, peripheral eosinophilia, and atopic disease.