Peutz-Jeghers syndrome (PJS) is characterized by the association of gastrointestinal (GI) polyposis, mucocutaneous pigmentation, and cancer predisposition. PJS-type hamartomatous polyps are most common in the small intestine (in order of prevalence: jejunum, ileum, and duodenum) but can also occur in the stomach, large bowel, and extraintestinal sites including the renal pelvis, bronchus, gall bladder, nasal passages, urinary bladder, and ureters. GI polyps can result in chronic bleeding, anemia, and recurrent obstruction and intussusception requiring repeated laparotomy and bowel resection. Mucocutaneous hyperpigmentation presents in childhood as dark blue to dark brown macules around the mouth, eyes, and nostrils, in the perianal area, and on the buccal mucosa. Hyperpigmented macules on the fingers are common. The macules may fade in puberty and adulthood. Recognition of the distinctive skin manifestations is important especially in individuals who have PJS as the result of a de novo pathogenic variant as these skin findings often predate GI signs and symptoms. Individuals with PJS are at increased risk for a wide variety of epithelial malignancies (colorectal, gastric, pancreatic, breast, and ovarian cancers). Females are at risk for sex cord tumors with annular tubules (SCTAT), a benign neoplasm of the ovaries, and adenoma malignum of the cervix, a rare aggressive cancer. Males occasionally develop large calcifying Sertoli cell tumors of the testes, which secrete estrogen and can lead to gynecomastia, advanced skeletal age, and ultimately short stature, if untreated.

Double-balloon enteroscopy (DBE) is an essential diagnostic and therapeutic modality for small-bowel disorders. Most prior studies on age-related differences in DBE involved limited age groups and small cohorts. We evaluated age-specific differences in the indications, findings, therapeutic interventions, and complications of DBE in a large single-center cohort. We retrospectively analyzed 817 patients who underwent 1101 DBE procedures between January 2006 and January 2023 at a tertiary center. The patients were grouped as young (18-44 years), middle-aged (45-64 years), and elderly (≥65 years). Demographics, indications, endoscopic and pathological findings, interventions, and complications were compared among groups. Bleeding was the most frequent indication in elderly patients, whereas diarrhea, abdominal pain, inflammatory bowel disease, and polyposis syndromes were more common in younger patients. Inflammatory lesions and polyps predominated in younger patients, whereas vascular lesions and tumors were more frequent in elderly patients (P < .05). Diagnostic interventions predominated in young and middle-aged patients, whereas therapeutic interventions were more common in the elderly (P < .001). Benign and malignant neoplasms were more common in the elderly, whereas celiac disease and polyposis syndrome were more common in younger individuals (P < .05). The overall complication rate was 2.6%, with a higher but nonsignificant rate of anesthesia-related complications in the elderly (P = .11). DBE is safe and effective in all age groups. Age was significantly associated with clinical indications and endoscopic findings, and recognizing these patterns can guide more targeted use of DBE and improve diagnostic accuracy.

Inflammatory fibroid polyps (IFP) are uncommon benign lesions of the gastrointestinal tract that can mimic malignant neoplasms, cause intussusception, and be difficult to recognize radiologically. Previous descriptions in the medical literature have consistently noted them to be composed of a solid core of fibrous tissue with overlying mucosa. A 47-year-old woman presented with 1 month of abdominal pain. Computed tomography (CT) with intravenous contrast revealed persistent obstruction due to enteroenteric intussusception. An ill-defined ovoid structure isodense with small bowel was noted to be contiguous with a collapsed loop of adjacent intestine. Surgical exploration identified an 8 cm polyploid intraluminal mass of the proximal ileum, which was resected. Histological findings were characteristic of an IFP. However, the polyp's mesenchymal center exhibited pseudocystic degeneration, resulting in a space filled with serosanguineous fluid. Cystic spaces can be found in other mesenchymal lesions, but mimics of IFP were excluded in this patient by negative immunohistochemistry (IHC) studies with S100, KIT, DOG1 (ANO1), and ALK. To our knowledge, central pseudocystic degeneration represents an underrepresented presentation of IFP, and the current lesion exhibited a radiologically deceptive appearance which could mimic other, potentially malignant entities.

While most pediatric intussusceptions are idiopathic, secondary cases differ significantly in clinical presentation, treatment strategies, and prognosis due to the presence of pathological lead points (PLPs). Accurate PLP identification is crucial for optimizing diagnosis and treatment. This study aims to compare clinical and imaging features across PLP types to improve recognition and intervention efficiency for secondary intussusception. This study investigates common PLPs in pediatric secondary intussusception and compare their epidemiological characteristics, clinical manifestations, imaging features, treatment responses, and recurrence patterns, with the goal of enhancing preoperative PLP identification and optimizing individualized management strategies. In this single-center retrospective observational study, we analyzed clinical data from 3013 intussusception patients treated at Zhangzhou Hospital Affiliated to Fujian Medical University between January 2018 and December 2023. Among them, 111 cases confirmed surgically/pathologically as secondary intussusception were categorized into 5 PLP groups: Meckel diverticulum, intestinal polyps, intestinal duplication, lymphoma, and Henoch-Schönlein purpura (HSP). Comparisons were made across groups regarding gender, age, symptoms, intussusception type, ultrasound findings, air enema success rate, intestinal necrosis, and recurrence. Secondary intussusception accounted for 3.7% of total cases. PLP types showed distinct age and sex distributions and differences in selected clinical and therapeutic features. Meckel diverticulum and duplication predominated in males < 2 years, polyps in females aged 2 to 6 years, and lymphoma/HSP in children ≥ 6 years. The PLP group showed significantly lower enema success (52.0% vs 90.9%, P < .001), higher necrosis (10.8%), and recurrence rates (45.9%) versus idiopathic cases. Ultrasound demonstrated varying diagnostic accuracy: higher for Meckel diverticulum/polyps but limited for lymphoma/HSP. Each PLP type exhibited distinct intussusception patterns, recurrence modes, and treatment requirements. Pediatric secondary intussusception has identifiable etiologies, and PLP types were associated with differences in onset age, imaging features, and clinical pathways. High suspicion for PLPs is warranted in recurrent cases, older children, and those with atypical imaging. While ultrasound provides valuable PLP detection, its limitations suggest the need for a multiparameter predictive model to enable precise preoperative identification and personalized treatment optimization.

Juvenile polyposis syndrome (JPS) is an inherited autosomal dominant disease that is distinguished by the emergence of numerous juvenile polyps within the gastrointestinal (GI) tract and has an increased risk of cancer. JPS is associated with germline mutations of the BMPR1A or SMAD4 genes. We aim to describe a case of familial occurrence of the SMAD4 germline pathogenic variant c.403C>T in a Brazilian family. We present a case of an 18-year-old female with rectal bleeding and chronic anemia who had a family history of colorectal issues-her mother had a total colectomy due to multiple polyps, and her maternal grandfather died from colorectal cancer (CRC). Despite a negative physical examination for attenuated familial adenomatous polyposis (AFAP) signs, a colonoscopy revealed around 30 proximal colon polyps of juvenile nature. These were systematically removed through multiple sessions, and an upper digestive endoscopy uncovered a few sessile inflammatory polyps. Notably, no polyps were found in the small intestine via double-balloon enteroscopy. After polyp removal, her bleeding episodes ceased, and her anemia resolved. She now maintains her health through biennial colonoscopies, upper digestive endoscopies, and endoscopic capsule procedures. Genetic testing identified a pathogenic mutation in exon 3 of the SMAD4 gene (c.403C>T), resulting in a truncated SMAD4 protein (p.Arg135 [∗]). While previously documented in international databases, this represents the first report of a Brazilian family carrying this variant. Additionally, no mutations were found in the BMPR1A gene during genetic testing. In conclusion, molecular analysis confirmed the familial occurrence of the SMAD4 germline pathogenic variant c.403C>T within this Brazilian family.

Obscure gastrointestinal bleeding (OGIB) accounts for approximately 5% of all gastrointestinal bleeding cases, with the small intestine being the most common source of origin. Primary small-bowel lymphoma is a rare malignancy that can present as intestinal bleeding in 2% to 22% of cases.  A 67-year-old male presented with a four-day history of diarrhea and melena, accompanied by severe anemia with a hemoglobin level of 5 g/dL. While a colonoscopy only revealed internal hemorrhoids and an ascending colon polyp, a subsequent non-contrast whole-abdomen CT scan demonstrated a 6-cm segmental small bowel wall thickening involving the proximal and distal ileum, accompanied by mesenteric fat stranding and aggressive aneurysmal dilatation. Further evaluation using antegrade enteroscopy identified a mass with central ulceration in the proximal ileum. Histopathological analysis of the ileal biopsy specimens revealed small intestinal mucosa heavily infiltrated by a diffuse, highly cellular tumor with small-to-medium neoplastic cells, confirming a malignant round cell neoplasm highly suspicious for non-Hodgkin lymphoma. This case highlights the critical clinical challenge of managing OGIB and underscores the importance of early diagnostic interventions. Utilizing CT imaging alongside device-assisted enteroscopy is vital for the prompt recognition of hidden small bowel disorders like lymphoma, enabling timely treatment, preventing life-threatening hemorrhagic complications, and improving the overall patient prognosis.

Peutz-Jeghers syndrome (PJS) is a rare autosomal dominant hamartomatous polyposis disorder characterised by mucocutaneous pigmentation and multiple gastrointestinal polyps, most commonly involving the small intestine. Paediatric patients frequently present with complications, such as abdominal pain, gastrointestinal bleeding, and recurrent intussusception. We report the case of a nine-year-old female with classical clinical and radiological features of PJS, including multisite gastrointestinal polyposis and a prior history of intussusception. Contrast-enhanced computed tomography revealed multiple heterogeneously enhancing sessile polyps involving the stomach, duodenum, colon, and rectum. Histopathological examination confirmed the diagnosis of PJS. In addition, imaging demonstrated incidental findings of femoral head epiphyseal flattening and sclerosis, consistent with avascular necrosis, suggestive of Legg-Calvé-Perthes disease (LCPD). A comprehensive review of the available literature revealed no previously reported cases describing a similar radiological association between PJS and LCPD. While both conditions are individually well documented, their coexistence appears to be extremely rare, thereby highlighting the novelty of the present case. The patient was managed conservatively and is currently under follow-up, with a stable clinical status. This case underscores the value of comprehensive cross-sectional imaging in pediatric patients with syndromic disorders, facilitating both diagnostic confirmation and the identification of unexpected but clinically significant incidental findings.

Objective: To explore the risk factors of prolonged postoperative ileus (PPOI) after segmental jejunectomy by propensity score matching (PSM). Methods: This study was designed as a case-control study. The inclusion criteria were as follows: (1) age >18 years; (2) receipt of segmental jejunal resection; (3) postoperative pathological diagnosis of benign jejunal lesions, including small intestinal polyps, small intestinal diverticulitis, small intestinal diverticula, benign small intestinal tumors, small intestinal ulcers, small intestinal hemangioma, small intestinal vascular malformation, and ectopic pancreas of the jejunum, as well as gastrointestinal stromal tumors, lymphoma, or adenocarcinoma; and (4) complete clinical and pathological data.The exclusion criteria were as follows: (1) concomitant other malignancies; (2) combined resection of other organs; (3) emergency surgery due to intestinal obstruction, perforation, or other conditions, including intestinal bleeding, jejunal injury, jejunal rupture, acute enteritis, acute hemorrhagic necrotizing enteritis, acute intestinal obstruction, and mesenteric arterial thrombosis; (4) preoperative constipation; and (5) postoperative complications other than PPOI of Clavien-Dindo grade II or higher, or inflammatory reactions involving intra-abdominal organs, such as peritonitis, cholecystitis, or pancreatitis. According to the above criteria, clinicopathological data of patients who underwent elective segmental jejunal resection at the General Surgery Center of Beijing Friendship Hospital, Capital Medical University, between July 2013 and June 2025 were retrospectively collected. After screening, 262 patients were included and divided into the PPOI group (n = 42) and the non-PPOI group (n = 220) according to the occurrence of PPOI. Propensity score matching was performed using the nearest-neighbor matching method with a caliper value of 0.1 at a 1∶1 ratio. Logistic regression analysis was used to identify risk factors for PPOI after segmental jejunal resection. Results: Among the 262 patients who underwent elective segmental jejunal resection, PPOI occurred in 42 patients, with an incidence rate of 16.1%. After propensity score matching (PSM), 42 matched pairs of patients were successfully generated. After matching, there were no statistically significant differences between the PPOI and non-PPOI groups in terms of disease type, surgical approach, maximum lesion diameter, or anastomotic method (P>0.05). The PPOI group had significantly higher age, postoperative length of hospital stay, and postoperative C-reactive protein levels than the non-PPOI group, whereas the distance from the lesion center to the ligament of Treitz, postoperative serum potassium levels, and albumin levels were significantly lower in the PPOI group (P<0.05). Univariate analysis showed that a distance from the lesion center to the ligament of Treitz of <30 cm, postoperative serum potassium level of <3.5 mmol/L, postoperative C-reactive protein level of >85 mg/L, and postoperative albumin level of <33 g/L were associated with the occurrence of PPOI after segmental jejunal resection (P<0.05). Multivariate analysis showed that a distance from the lesion center to the ligament of Treitz of <30 cm (OR=8.481, 95%CI: 2.102-34.223, P=0.003), postoperative serum potassium level of <3.5 mmol/L (OR = 16.600, 95%CI: 3.869-71.230, P=0.011), and postoperative C-reactive protein level of >85 mg/L (OR=6.168, 95%CI: 1.514-25.128, P=0.007) were independent risk factors for PPOI after segmental jejunal resection. Conclusions: Patients undergoing proximal jejunal resection, defined as a distance from the lesion center to the ligament of Treitz of <30 cm, as well as those with postoperative hypokalemia and elevated C-reactive protein levels, are at a higher risk of developing PPOI.

Colorectal serrated polyps are now recognized as an important pathway in colorectal carcinogenesis. An association between serrated polyposis syndrome (SPS) and duodenal serrated lesions sharing a similar immunophenotype in both the colon and duodenum has been reported in the literature. We present a case of a 38-year-old male who presented in June 2023 with abdominal pain and fever. Initial investigations, including multiple computed tomography scans of the abdomen and pelvis, revealed an appendiceal abscess and small bowel intussusception involving two segments of the jejunum without evidence of obstruction, along with multiple polyps throughout the small and large bowel suggestive of an intestinal polyposis syndrome. Further evaluation with colonoscopy, esophagogastroduodenoscopy, and magnetic resonance enterography confirmed the presence of numerous polyps of varying sizes involving the duodenum, jejunum, ileum, and all segments of the colon. The initial differential diagnosis included familial adenomatous polyposis, Peutz-Jeghers syndrome, and PTEN hamartoma tumor syndrome. The patient subsequently developed complicated small bowel obstruction due to intussusception and underwent open small bowel resection. Multiple intestinal polyps were identified, and histopathological examination confirmed the diagnosis of SPS. At a later stage, the patient was planned for subtotal colectomy, preceded by elective endoscopic polypectomy, which achieved clearance of the left colon up to 20 cm from the anal verge. Gross examination of the colectomy specimen revealed more than 20 large polyps measuring up to 4 cm. Histopathological analysis demonstrated colonic serrated polyposis without evidence of invasive malignancy, wall infiltration, or lymph node involvement, with clear surgical margins.