Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive metabolic disorder that can cause premature atherosclerosis and ischemic stroke in young adults. We report a 23-year-old man who had recurrent strokes even after patent foramen ovale (PFO) closure. Initial evaluation for his first cryptogenic stroke revealed a PFO with a high Risk of Paradoxical Embolism (RoPE) score, leading to closure. Three years later, he experienced a recurrent stroke with right M1 segment occlusion. High-resolution magnetic resonance vessel wall imaging demonstrated intracranial atherosclerotic plaque, prompting reconsideration of the etiology. Further history taking revealed chronic diarrhea since infancy and juvenile cataracts. Examination showed borderline intellectual functioning, bilateral ankle clonus, and Achilles tendon xanthomas. Brain MRI exhibited characteristic bilateral dentate nucleus hyperintensities. Genetic testing confirmed CYP27A1 pathogenic variants, consistent with a diagnosis of CTX. Through highlighting CTX underlying premature atherosclerosis and stroke in a young man, this case emphasizes the importance of rare metabolic disorders in stroke, even when a common cause such as PFO is identified. Early recognition enables targeted therapy and improves outcomes.

Pheochromocytoma is a rare adrenal medullary neoplasm in cats, with limited published cases and diagnostic challenges due to variable clinical presentation. An 8-year-old neutered male domestic shorthair cat presented with severe watery diarrhea, lethargy, and anorexia. Diagnostic evaluation revealed chronic kidney disease, pyelonephritis, and a large cystic right adrenal mass identified on ultrasonography and computed tomography. Endocrine testing did not support hyperadrenocorticism or hyperaldosteronism, and functional assessment of catecholamine excess was not performed. Surgical adrenalectomy was elected due to mass size and rupture risk. Histopathological examination demonstrated a medullary adrenal neoplasm composed of polygonal cells arranged in characteristic packets. Immunohistochemistry revealed synaptophysin positivity with negative chromogranin A staining, supporting a diagnosis of pheochromocytoma. Postoperative recovery was uneventful, and the cat remained normotensive and clinically stable at one year, with chronic kidney disease managed medically. This case underscores the diagnostic complexity of feline pheochromocytoma and highlights the importance of integrating imaging, histopathology, and immunohistochemistry, as chromogranin A negativity does not exclude this diagnosis.

Strongyloides stercoralis is a soil-transmitted helminth that is increasingly reported in dogs across Europe. While most infections are subclinical, hyperinfection syndrome, marked by excessive larval proliferation and systemic spread, can occur in immunocompromised hosts. An 11-year-old male Boston Terrier dog, originating from southern France with a history of chronic diarrhoea and recent splenectomy was presented with severe regenerative anaemia, thrombocytopenia, and a degenerative left shift. Haemotropic Mycoplasma haemocanis infection was diagnosed, and doxycycline therapy was initiated. During hospitalisation, the dog developed dyspnoea, pneumonia, and progressive pleural effusion containing motile nematode larvae. Strongyloides stercoralis infection was diagnosed by morphological identification of larvae in pleural effusion (third-stage larvae) and faeces (first- and third-stage larvae) and confirmed by PCR targeting mitochondrial cox1 and nuclear 18S rDNA hypervariable regions (HVR) I and IV), followed by sequencing, which revealed the haplotypes HP16 (cox1), VI (HVR-I) and A (HVR-IV). The HVR-IV haplotype A is found in both dogs and humans, characterizing the zoonotic population of S. stercoralis. Respiratory signs worsened despite combined fenbendazole and escalating ivermectin treatment, requiring euthanasia. Post-mortem examination revealed chronic granulomatous pneumonia, a pulmonary carcinomatous nodule, lymphoplasmacytic enterocolitis, and glomerulonephritis. This case represents the first report of S. stercoralis hyperinfection in an adult splenectomised dog. It highlights the importance of including strongyloidiasis in differential diagnoses of dogs with respiratory and gastrointestinal signs, particularly in animals with compromised immunity or relevant travel history.

Monomorphic epitheliotropic intestinal T-cell lymphoma (MEITL) is a rare non-Hodgkin lymphoma originating from mature T lymphocytes within the intestinal epithelium. It is a distinctly heterogeneous malignant tumor with a highly aggressive nature and poor prognosis. Nontuberculous mycobacteria (NTM) are ubiquitous and can infect immunocompromised hosts. NTM infections pose an increased risk of morbidity and mortality in patients with hematological malignancies, with a reported prevalence of 1.4% in those with lymphoma. Here we present a case of a 47-year-old patient, who experienced diarrhea for 8 months. Initially, the condition was misdiagnosed as intestinal tuberculosis. However, it was later correctly diagnosed as MEITL combined with NTM infection through intestinal histopathological biopsy and matrix-assisted laser desorption/ionization time-of-flight mass spectrometry analysis of the sputum. To our knowledge, it is the first documented instance of MEITL combined with NTM infection. This case serves as a reminder that NTM infection is one of the potential infectious complications in patients with MEITL.

Eosinophilic esophagitis (EoE) is a chronic inflammatory disorder of the esophagus characterized by dysphagia and food impaction. Although uncommon, spontaneous esophageal perforation may occur, most frequently involving the distal esophagus and the gastroesophageal junction. These perforations are typically managed with surgical or endoscopic interventions. Early diagnosis and prompt initiation of treatment within the first 24 hours significantly reduce morbidity and mortality. The aim of this report is to demonstrate that gastroesophageal junction perforation secondary to eosinophilic esophagitis can be successfully managed conservatively, even in delayed presentations, and to contribute to the understanding of treatment strategies for this rare but potentially life-threatening complication. We report the case of a 35-year-old male with a 12-year history of EoE who presented to the emergency department with retrosternal pain, dyspnea, and hematemesis. Five days prior to presentation, he developed a sore throat and cherry-colored diarrhea after consuming grilled chicken and self-administered ibuprofen for symptom relief. Contrast-enhanced imaging and upper endoscopy revealed a perforation at the gastroesophageal junction. Due to the location of the lesion, endoscopic stenting or clipping was considered inappropriate. In the absence of signs of acute abdomen, mediastinitis, or significant fluid collection, a conservative management strategy was adopted. The patient was admitted to the intensive care unit and initially treated with intravenous ceftriaxone (2 g/day) and metronidazole (1.5 g/day), which were later changed to piperacillin-tazobactam (4.5 g every 6 hours) following infectious disease consultation. The patient remained clinically stable, and oral intake was initiated on day 6. Antibiotic therapy was discontinued on day 10, and the patient was discharged without complications. At the three-month follow-up, the patient reported recurrent and progressively worsening dysphagia. Control endoscopy performed at the previously visited center revealed a distal esophageal stricture preventing passage of the gastroscope; therefore, a 12-cm fully covered self-expandable esophageal stent was placed. The stent was removed 20 days later, and the patient remained asymptomatic during the subsequent six-month follow-up period. Spontaneous esophageal perforation secondary to EoE is a rare but potentially life-threatening complication. This case highlights that conservative management may be a viable alternative to surgical or endoscopic intervention not only in early-detected cases but also in carefully selected delayed presentations managed in a multidisciplinary setting. Long-term follow-up remains essential for the early detection and treatment of late complications, such as stricture formation.

We present the case of a 35-year-old male with no known comorbidities who presented with chronic gastrointestinal (GI) and constitutional symptoms and was empirically treated with several antibiotics during multiple clinic visits at different health facilities. The laboratory test sent included a stool GeneXpert, which was positive for Mycobacterium tuberculosis (MTB). CT imaging revealed multiple necrotic abdominal and retroperitoneal lymph nodes, hypoenhancing splenic lesions, a nodo-colonic fistula between the necrotic retroperitoneal lymph nodes and the adjacent colon, and a mild left-sided pleural effusion. Colonoscopy demonstrated caseating discharge from the fistulous tract 40 cm from the anal verge, and histology showed abundant neutrophils and histiocytes with areas of caseous-like necrosis. The patient was diagnosed with disseminated tuberculosis (TB) with newly diagnosed HIV stage 4. Antituberculous therapy was initiated, followed by antiretroviral therapy (ART) two weeks later in accordance with World Health Organization and national treatment guidelines. This case highlights the need for a thorough evaluation of a patient with a history of chronic GI symptoms and the importance of maintaining a high index of suspicion when diagnosing disseminated TB. In TB-endemic regions, a differential diagnosis of TB should be sought in patients presenting with GI and constitutional symptoms, and such symptoms should prompt an HIV test. Imaging plays a pivotal role in identifying key features such as lymphadenopathy and fistulous tracts, and colonoscopy can show a caseating discharge, which should raise suspicion for chronic infectious or granulomatous diseases, including TB. Although rare, nodo-colonic fistula formation can occur as a complication of abdominal TB. Conservative management can be effective in stable patients, potentially avoiding the morbidity of surgical intervention, as demonstrated in this case. Comprehensive management, including prompt initiation of anti-TB therapy, timely ART, prophylaxis for opportunistic infections, and nutritional support, is crucial to optimize outcomes in such complex presentations.

Chronic diarrhea is a digestive disorder with a global prevalence ranging from 3% to 20%. The etiology of chronic diarrhea is complex and can be life-threatening in severe clinical cases. Zinc serves as a vital trace element that plays a pivotal role in stabilizing the intestinal barrier and regulating gut flora. However, previous evidence on the association between dietary zinc intake and chronic diarrhea remains limited. We extracted and analyzed questionnaire, laboratory, and dietary data from the National Health and Nutrition Examination Survey database (2005-2010). Dietary zinc intake was categorized into quartiles to explore its potential association with chronic diarrhea. The correlation between zinc intake and the risk of chronic diarrhea was analyzed using complex sample-weighted statistical methods, including weighted t tests, weighted chi-square tests, one-way regression analysis, and multivariate logistic regression analysis. The findings indicated a significant positive correlation between zinc intake and risk of chronic diarrhea across all 3 adjusted continuous variable models. For categorical variables, the highest zinc intake group (Q4) exhibited an elevated risk of chronic diarrhea compared with the lowest intake group (Q1). A 2-piecewise linear model identified an inflection point of 22.647 mg in the relationship between zinc intake and chronic diarrhea, with a positive correlation observed below this threshold and a negative correlation detected above this cutoff. Our study provides novel insights into the association between dietary zinc intake and risk of chronic diarrhea. A 2-piecewise linear model revealed a complex correlation between the 2, under the influence of the threshold effect.

Acute gastroenteritis, characterized by vomiting and/or diarrhea, places a significant burden on healthcare systems and the economy. Although tobacco is recognized as a risk factor for chronic gastrointestinal (GI) diseases, its role in acute GI morbidity has not been widely investigated in population-based studies. To quantify the independent association between smoking status and 30-day prevalence of acute GI illness involving vomiting and/or diarrhea, adjusting for key confounders. We used nationally representative data from the 2005 to 2010 National Health and Nutrition Examination Survey (n = 12,358 adults aged ≥20 years) to classify smoking status as never, former, or current. The outcome was self-reported GI illness involving vomiting and/or diarrhea in the past 30 days. We employed staged multivariable logistic regression, sequentially adjusting for the following factors: demographics, comorbidities and body mass index, diet, and inflammatory and nutritional biomarkers. Current smokers had a significantly higher prevalence of GI illness (11.3%) than never smokers (7.5%) and former smokers (8.2%) (P < .001). In the fully adjusted models, current smoking was associated with a 52% increase in the odds of GI illness (odds ratio: 1.52; 95% confidence interval: 1.29-1.79; P < .001), whereas former smokers had odds that were 19% higher (odds ratio: 1.19; 95% confidence interval: 1.01-1.41; P = .037). Stratified analyses confirmed consistency across demographic and clinical subgroups (all P-interactions > .05). Active cigarette smoking is an independent risk factor for acute GI morbidity. The reduced risk among former smokers suggests that the harm caused by tobacco can be reversed, thus supporting smoking cessation as a preventive strategy. This study broadens our understanding of smoking-related diseases and provides insights into integrated tobacco control interventions.

In patients presenting with intestinal symptoms who undergo colonoscopy with mucosal sampling, the pathologist plays a central role in identifying the underlying etiology in order to guide appropriate clinical management. However, common intestinal symptoms such as diarrhea are shared by a broad spectrum of conditions, including infectious diseases, functional disorders (e.g., irritable bowel syndrome), inflammatory bowel disease (IBD), drug-induced injury, and metabolic disorders (e.g., diabetes mellitus). Although serological biomarkers may support the diagnostic workup, they are frequently insufficient to establish a definitive diagnosis. Moreover, endoscopic examination may fail to detect significant mucosal abnormalities even when histology reveals disease-specific patterns, as occurs in lymphocytic and collagenous colitis (i.e., microscopic colitis). In this complex diagnostic landscape, histomorphological evaluation represents a crucial element, allowing integration of microscopic findings with clinical and endoscopic data to reach an accurate interpretation. In recent years, accumulating evidence has demonstrated that similar histological patterns of intestinal injury-such as IBD-like architectural and inflammatory changes or eosinophil-rich infiltrates-may be associated with different underlying etiologies. This overlap is particularly relevant in patients treated with novel oncologic therapies, including tyrosine kinase inhibitors (TKIs), immune checkpoint inhibitors (ICIs), and emerging treatments such as chimeric antigen receptor T-cell (CAR-T) therapy. In addition, in daily practice, pathology request forms often lack essential clinical, endoscopic, and laboratory information, further increasing the risk of diagnostic misinterpretation and inappropriate disease attribution. To address these challenges, the Italian Group of Digestive Disease Pathology (GIPAD) proposes a pattern-based histological approach for reporting mucosal damage in patients with colitis. In this first paper, we focus on non-chronic patterns of mucosal injury and discuss their principal differential diagnoses, with the aim of supporting standardized reporting and improving clinicopathological correlation.