Vo VH, Nguyen CD, Phan ST
… +5 more, Quach PT, Anh Phan TD, Nguyen KM, Vo TD, Bui HH
Case Rep Gastroenterol
· 2025 · PMID 40880677
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INTRODUCTION: Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by intermittent jaundice episodes. CASE PRESENTATION: We report a 25-year-old male patient wit...INTRODUCTION: Benign recurrent intrahepatic cholestasis (BRIC) is a rare autosomal recessive inherited disorder characterized by intermittent jaundice episodes. CASE PRESENTATION: We report a 25-year-old male patient with numerous hospitalizations for jaundice. The diagnosis of BRIC type 1 was established by liver biopsy, genetic analysis, and the exclusion of alternative etiologies of cholestasis. A novel missense heterozygous variant was identified in the ATP8B1 gene (c.2081T>A). The acute cholestatic attack, along with associated complications such as distal renal tubular acidosis and acute pancreatitis, was successfully managed with plasmapheresis and rifampicin. CONCLUSION: Novel mutations that differ from those documented in the literature in combination with renal tubular acidosis may enhance our comprehension of this topic.
Case Rep Gastroenterol
· 2025 · PMID 40880676
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INTRODUCTION: Gall stone ileus is a rare complication of cholelithiasis which typically presents with obstruction in the small intestine. However, it can rarely mimic a mass when it presents in unusual sites like the sig...INTRODUCTION: Gall stone ileus is a rare complication of cholelithiasis which typically presents with obstruction in the small intestine. However, it can rarely mimic a mass when it presents in unusual sites like the sigmoid colon as in our case. CASE PRESENTATION: We present a 42-year-old woman with a history of bariatric surgery, diverticulitis status post sigmoid colectomy and decompensated cirrhosis complicated by hepatic encephalopathy who presented to the hospital with concern for altered mental status and was diagnosed with grade III hepatic encephalopathy due to lactulose non adherence. During the hospitalization, patient developed rectal bleeding with suspected colonic mass on imaging that was ultimately identified as a large sigmoid gallstone ileus on endoscopic evaluation. CONCLUSION: Our report aimed to highlight the importance of considering gallstone ileus in the differential diagnosis of colonic masses, especially in patients with relevant clinical history.
Ito H, Tazawa Y, Omura Y
… +9 more, Yamaguchi T, Chou T, Ito A, Tsuda S, Nagata J, Hirose S, Kamei S, Ogawa Y, Suzuki T
Case Rep Gastroenterol
· 2025 · PMID 40880675
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INTRODUCTION: The lumen-apposing metal stent (LAMS) is a novel prosthesis for fistula formation between the gastrointestinal and cyst walls. Bleeding complications occur in 10% of cases mostly during LAMS placement. We p...INTRODUCTION: The lumen-apposing metal stent (LAMS) is a novel prosthesis for fistula formation between the gastrointestinal and cyst walls. Bleeding complications occur in 10% of cases mostly during LAMS placement. We present a case of recurrent bleeding following LAMS placement. CASE PRESENTATION: A 47-year-old male was admitted to a local hospital for acute pancreatitis and subsequently referred for endoscopic drainage because of an enlarging pseudocyst near the tail of the pancreas. Treatment involved LAMS and endoscopic ultrasound-guided transmural drainage. Posttreatment computed tomography revealed cyst shrinkage; however, upper gastrointestinal bleeding was noted after discharge. Endoscopy identified bleeding within the fistula, which was controlled by spraying an absorbable local hemostatic agent into the cavity. After ensuring the absence of recurrent bleeding for approximately 1 month, the LAMS was removed under endoscopy. Following LAMS removal, arterial bleeding was observed within the cavity, prompting an emergency angiography. Angiography revealed bleeding from a pseudoaneurysm of the splenic artery, which was treated with coil embolization. No rebleeding occurred after the procedure. CONCLUSION: Bleeding 1 week after placement or during removal is rare. However, following LAMS placement, there is a risk of bleeding until removal, with arterial bleeding often occurring at the time of removal. Therefore, it is necessary to establish a system that allows for prompt vascular embolization treatment.
Freixas Bermejo M, Riera Soler L, García Martínez L
… +1 more, Segarra Cantón O
Case Rep Gastroenterol
· 2025 · PMID 40880673
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INTRODUCTION: We present the case of a patient with Crohn's disease who experienced recurrent pneumothorax after starting treatment with ustekinumab. CASE PRESENTATION: A patient with Crohn's disease started an induction...INTRODUCTION: We present the case of a patient with Crohn's disease who experienced recurrent pneumothorax after starting treatment with ustekinumab. CASE PRESENTATION: A patient with Crohn's disease started an induction regimen with intravenous ustekinumab, and 2 months later he presented a left-sided pneumothorax. It had an atypical evolution that required surgical management. The medication was withdrawn and the pneumothorax resolved completely. One year later, he had a new flare-up of Crohn's disease and ustekinumab therapy was restarted, presenting a new episode of pneumothorax. CONCLUSION: To our knowledge, this is the first report of recurrent pneumothorax following two separate attempts to initiate ustekinumab.
Shehab M, Almajdi A, Alotaibi M
… +1 more, Almattooq M
Case Rep Gastroenterol
· 2025 · PMID 40880674
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INTRODUCTION: Inflammatory bowel disease-primary sclerosing cholangitis (IBD-PSC) is a unique disease entity that has very poorly understood pathogenesis and unique clinical presentation. Patients with this disease may e...INTRODUCTION: Inflammatory bowel disease-primary sclerosing cholangitis (IBD-PSC) is a unique disease entity that has very poorly understood pathogenesis and unique clinical presentation. Patients with this disease may eventually require liver transplantation as there is no current curative treatment for PSC to halt disease progression for liver failure. Thirty percent of patients with IBD may experience recurrence despite being on immunosuppression. Few studies have shown that vancomycin has been used as a salvage treatment for patients with refractory ulcerative colitis (UC) exacerbation refractory to conventional and biological agents. In this report, we discuss the case of 25-year-old female with a prior history of sickle cell disease (SCD), UC, post-liver transplant secondary to PSC, who developed UC exacerbation refractory to conventional therapies and most biological agents and was induced and maintained in remission with oral vancomycin (OV). CASE PRESENTATION: This is the case of 25-year-old female with a history of SCD, UC, and primary sclerosing cholangitis (PSC) who developed liver cirrhosis and underwent liver transplantation. Prior to liver transplantation, she had recurrent exacerbations of UC, refractory conventional therapies, and most biological agents. Post-liver transplantation, she developed another UC flare despite being treated with ustekinumab. OV 125 mg four times daily was used as salvage therapy post-liver transplantation to control her UC. CONCLUSION: This report supports the use of OV in patient with SCD who had UC exacerbation refractory to conventional and biological agents.
Truniger S, Borovicka J, König M
… +3 more, Schmid MB, Frei NF, Brand S
Case Rep Gastroenterol
· 2025 · PMID 40852031
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INTRODUCTION: The medical treatment of refractory collagenous colitis with a concomitant symptomatic lymphocytic disorder of the upper gastrointestinal tract is very challenging with scarce evidence. CASE PRESENTATION: W...INTRODUCTION: The medical treatment of refractory collagenous colitis with a concomitant symptomatic lymphocytic disorder of the upper gastrointestinal tract is very challenging with scarce evidence. CASE PRESENTATION: We present a 61-year-old female patient with a long-standing highly refractory collagenous colitis with a concomitant symptomatic lymphocytic disorder with villous atrophy and intraepithelial lymphocytes of the upper gastrointestinal tract causing severe watery diarrhoea with severe hypokalemia and recurrent episodes of prerenal kidney injuries requiring several hospital admissions. Celiac serology as well as genetic analyses (HLA-DQ2/DQ8) were negative, and other common etiologies of intraepithelial lymphocytosis and villous atrophy were ruled out. Considering the similar course of the disease in the upper and lower gastrointestinal tract for a time period of more than 20 years, a common etiologic relationship, particularly an autoimmune disorder seems to be very likely in this patient. Several therapies such as budesonide, immunomodulators, and the biologics infliximab and vedolizumab had to be stopped due to either non-response, loss-of-response or drug-related side effects. However, the patient responded immediately to the JAK-1 inhibitor upadacitinib, with documented remission for more than 1 year. CONCLUSION: For the first time, a prompt and significant response to upadacitinib in a patient with refractory collagenous colitis with upper gastrointestinal tract involvement was shown, suggesting upadacitinib as therapy of choice in severe therapy-refractory cases of collagenous colitis, particularly with concomitant upper gastrointestinal tract involvement.
Hong X, Zeng L, Li Q
… +8 more, Yang T, Zhou J, Li H, Mo Y, Zhuo S, Ma J, Cai J, Xie C
Case Rep Gastroenterol
· 2025 · PMID 40786849
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INTRODUCTION: () can cause opportunistic infections in immunocompromised patients, especially HIV/AIDS recipients, but currently, there are still few case reports of infections in solid organ transplant recipients. As...INTRODUCTION: () can cause opportunistic infections in immunocompromised patients, especially HIV/AIDS recipients, but currently, there are still few case reports of infections in solid organ transplant recipients. As cannot be diagnosed by routine examination and culture, it is often overlooked as a possible cause of chronic diarrhea in transplant recipients. With no known established guidelines for , the effective and available treatment options are limited. CASE PRESENTATION: In this article, we reported a case of persistent chronic diarrhea and renal failure due to infection after liver transplantation, which was definitively diagnosed using metagenomic next-generation sequencing (mNGS). Short course of albendazole was applied to the patient, resulting in rapid resolution of clinical symptoms and recovery of renal function. CONCLUSION: The case demonstrates the advantages of mNGS for the diagnosis of rare pathogenic bacterial infections, and together with the previous case reports, further suggests albendazole may serve as an effective therapy for the treatment of for some patient. This article reviews relevant literature and provides an updated and more comprehensive reference for the selection of treatment drugs. To be note, the overview showed there may be individualized differences in the efficacy of albendazole, which needs more study.
Nekkanti A, Gopakumar H, Asghar M
… +2 more, Kandula M, Puli S
Case Rep Gastroenterol
· 2025 · PMID 40778096
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INTRODUCTION: Hepatic cysts, commonly discovered incidentally, can become symptomatic due to complications like infection, rupture, or mass effect. Traditional management options include percutaneous drainage, open surgi...INTRODUCTION: Hepatic cysts, commonly discovered incidentally, can become symptomatic due to complications like infection, rupture, or mass effect. Traditional management options include percutaneous drainage, open surgical or laparoscopic deroofing, and liver resection. We present a case series of 3 patients with complex fluid collections in the liver managed by endoscopic ultrasound (EUS)-guided drainage using lumen-apposing metal stent (LAMS) placement. While reports exist from other countries, our study contributes a series of cases from the USA. CASE PRESENTATION: Three patients, average age 75 years (two men, one woman), underwent EUS-guided drainage using LAMS for an infected liver cyst, infected liver hematoma within a hepatocellular carcinoma lesion, and a symptomatic simple liver cyst, respectively. All the hepatic fluid collections were in the left hepatic lobe and had an average diameter of 11 centimeters (cm). Only the female patient with a symptomatic cyst had prior percutaneous drainage. Successful LAMS placement was achieved in all cases. Clinical success, defined as cyst resolution or significant size reduction, was observed in all patients. The superinfected liver cyst showed complete resolution, yet the stent remained in place as the patient transitioned to hospice and subsequently passed away. In the case of the superinfected liver hematoma, the stent was removed after 2 months. No recurrence was observed in follow-up imaging 8 months later, and the patient passed away. The symptomatic simple liver cyst patient had the stent removed 15 months later, with no recurrence in imaging 11 months of post-stent removal. CONCLUSION: EUS-guided LAMS placement emerges as a less invasive and viable option for treating symptomatic and/or infected hepatic fluid collections compared to surgery or percutaneous drainage. While it may be a preferable choice in institutions with the requisite expertise, further studies are essential to establish its definitive role as a first-line intervention.
Koo TH, Sunkesula V, Abdel Jalil S
… +3 more, Wong R, Abdel-Jalil A, Abdel Jalil E
Case Rep Gastroenterol
· 2025 · PMID 40771911
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INTRODUCTION: The exact etiology of acinar cell cystadenoma (ACC) has been debated, primarily whether it originates from or carries the risk of an underlying neoplasia. Pancreatic intraepithelial neoplasia (PanIN) is pre...INTRODUCTION: The exact etiology of acinar cell cystadenoma (ACC) has been debated, primarily whether it originates from or carries the risk of an underlying neoplasia. Pancreatic intraepithelial neoplasia (PanIN) is presumed to be a noninvasive precursor of pancreatic ductal adenocarcinoma. This report presents a rare case of ACC with low-grade PanIN that required surgical resection. CASE PRESENTATION: A 60-year-old female with an unremarkable medical history presented with epigastric pain for 2 weeks. Her initial laboratory workup was notable for mild isolated elevation of alkaline phosphatase. Abdominal computed tomography revealed a 5.0 × 4.0 cm cystic lesion in the pancreatic head with thick internal septations. Magnetic resonance cholangiopancreatography showed a 5.2 × 4.5 × 6.8 cm lobulated cystic lesion in the pancreatic head with a microcystic configuration, multiple internal septations, and a hypointense central scar. Endosonographic examination showed a large multicystic lesion in the pancreatic head region. Fine-needle aspiration showed a carcinoembryonic antigen level of 555 ng/mL and an amylase level of 13,593 U/L. No KRAS or GNAS mutations or loss of heterozygosity was detected. Subsequently, the patient underwent a Whipple procedure. Pathologic examination revealed a complex cystic lesion with well-differentiated acinar cells and patches of ductal epithelium compatible with ACC. Histological examination confirmed the presence of low-grade PanIN without invasive carcinoma. The patient recovered well from surgery, and repeat imaging 2 months later was unremarkable. CONCLUSION: ACC is a rare benign pancreatic lesion. Low-grade PanIN is typically found in benign pancreatic lesions. Resection is recommended for symptomatic patients.
Koo TH, Sunkesula V, Daou M
… +4 more, Abdel Jalil S, Wong R, Abdel-Jalil A, Abdel Jalil E
Case Rep Gastroenterol
· 2025 · PMID 40771910
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INTRODUCTION: Mixed acinar-neuroendocrine carcinoma (MANEC) is a rare variant of pancreatic carcinoma, the morphology of which shows features of both acinar cell carcinoma and neuroendocrine carcinomas. To date, only app...INTRODUCTION: Mixed acinar-neuroendocrine carcinoma (MANEC) is a rare variant of pancreatic carcinoma, the morphology of which shows features of both acinar cell carcinoma and neuroendocrine carcinomas. To date, only approximately 70 cases of MANEC have been reported. CASE PRESENTATION: We report a rare case of a 63-year-old male cirrhotic patient who presented with a pancreatic body/tail mass, which was later confirmed to be an MANEC. He was initiated on neoadjuvant chemotherapy with FOLFIRINOX, but unfortunately died before surgery. CONCLUSION: MANEC is a rare sporadic tumor of the pancreas. Further studies on the clinicopathological behavior of MANEC are needed to help better understand the disease and establish standardized management.
Tayyub MU, Gupta A, Ashraf R
… +4 more, Gupta M, Tantrige P, Curtis H, Audimoolam V
Case Rep Gastroenterol
· 2025 · PMID 40756741
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INTRODUCTION: Some of the most common presentations of gastrointestinal diseases are nausea, vomiting, and generalized abdominal pain. These symptoms could also be associated with other diseases and require a structured...INTRODUCTION: Some of the most common presentations of gastrointestinal diseases are nausea, vomiting, and generalized abdominal pain. These symptoms could also be associated with other diseases and require a structured approach to the specific diagnosis. Eosinophilic granulomatosis with polyangiitis (EGPA), also known as Churg-Strauss syndrome, is a small and medium-sized vessel vasculitis that can affect any body system and present with a wide range of symptoms and atypical presentation. Therefore, diagnosis of this condition may not always be straightforward. CASE PRESENTATION: This case report presents a challenging case of a young man presenting with symptoms of abdominal pain, nausea, vomiting and non-specific symptoms of lethargy and fatigue. The case describes overlapping features with granulomatosis with polyangiitis (GPA) and anti-neutrophil cytoplasmic antibodies (ANCA)-positive and -negative vasculitis. The patient needed extensive workup and investigations to be eventually diagnosed with EGPA. In this case, myeloperoxidase (MPO) ANCA was negative, which is positive in the majority of EGPA cases, and this poses an additional diagnostic dilemma. CONCLUSION: The case highlights that non-specific complaints of vomiting and abdominal pain should be addressed methodically and not just be treated symptomatically.
Kikuchi D, Ochiai Y, Hoshihara Y
… +4 more, Suzuki Y, Hayasaka J, Yamashita S, Hoteya S
Case Rep Gastroenterol
· 2025 · PMID 40735551
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INTRODUCTION: Gastroesophageal reflux disease (GERD) is diagnosed based on bothersome symptoms, such as heartburn, and the presence of mucosal breaks endoscopically. Treatments that suppress gastric acid, such as proton...INTRODUCTION: Gastroesophageal reflux disease (GERD) is diagnosed based on bothersome symptoms, such as heartburn, and the presence of mucosal breaks endoscopically. Treatments that suppress gastric acid, such as proton pump inhibitor (PPI) and vonoprazan, are frequently administered. Several studies reported regarding the safety and side effects of long-term PPI administration, including an association with gastric polyps. We report a case of maintained symptom resolution and significantly shrank gastric polyps by performing step-down therapy, which is minimal acid-suppressing treatment. CASE PRESENTATION: A female patient in her 60s had been taking PPI for reflux esophagitis for >10 years. An upper gastrointestinal endoscopy revealed two gastric polyps measuring 20 mm and 10 mm. She was referred to our hospital for resection, but narrow-band imaging revealed a nonneoplastic lesion. PPI was discontinued, and step-down therapy using vonoprazan was performed. During the treatment, a lifestyle guidance app (Muneyake PRO) was used to record daily heartburn symptoms, oral medication status, and daily life status. She was worried that her symptoms would worsen due to discontinuation, but she gained her understanding when the use of the app to monitor her symptoms was explained. The app was useful for understanding the progress of symptoms and the status of oral medication. Step-down therapy was performed only twice after PPI discontinuation, symptoms have not worsened, and follow-up endoscopy revealed significant gastric polyp shrinkage. CONCLUSION: We experienced a case in which minimal acid-suppression treatment and step-down therapy using vonoprazan resulted in GERD symptom control and significant gastric polyp shrinkage.
Al Hariri B, Sharif M, Al-Emadi L
… +4 more, Shamoon R, Illahi MN, Mahmood NS, Khalid MK
Case Rep Gastroenterol
· 2025 · PMID 40673127
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INTRODUCTION: COVID-19, although primarily a respiratory illness, has been linked to complications in multiple organ systems, including the liver. Proposed mechanisms for liver injury include direct viral cytopathic effe...INTRODUCTION: COVID-19, although primarily a respiratory illness, has been linked to complications in multiple organ systems, including the liver. Proposed mechanisms for liver injury include direct viral cytopathic effects, systemic inflammation, hypoxia, and drug-induced liver injury (DILI). Moreover, post-COVID cholangiopathy is an emerging entity with features that may overlap with autoimmune phenomena. CASE PRESENTATION: A 60-year-old male patient with multiple comorbidities presented with fever, chills, and cough for 1 day. In the emergency department, he tested positive for COVID-19 by PCR and his chest X-ray revealed features suggestive of pulmonary edema. The patient was intubated and admitted to the Medical Intensive Care Unit (MICU) for management of COVID-19 pneumonia with pulmonary edema. During hospitalization, he developed cardiac complications that required targeted management. Approximately 1 week after admission, his liver enzymes began to rise. Although drug-DILI was initially suspected and hepatotoxic medications were discontinued with the initiation of ursodeoxycholic acid (UDCA), the liver function tests (LFTs) remained elevated. Subsequent magnetic resonance cholangiopancreatography revealed periportal inflammation with intrahepatic biliary dilatation and stricturing, findings consistent with COVID-19 induced cholangiopathy. The UDCA dosage was doubled, resulting in gradual biochemical improvement; however, the patient ultimately discharged against medical advice. CONCLUSION: COVID-19-induced cholangiopathy is a rare but serious liver complication. Effective management requires a multidisciplinary team. Ongoing research is needed to better understand long-term liver effects and improve care strategies.
Case Rep Gastroenterol
· 2025 · PMID 40641887
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INTRODUCTION: A 19-year-old male presented with a 6-month history of recurrent ascites and lower limb edema, prompting a detailed diagnostic evaluation at our hospital. CASE PRESENTATION: The patient displayed a ruddy co...INTRODUCTION: A 19-year-old male presented with a 6-month history of recurrent ascites and lower limb edema, prompting a detailed diagnostic evaluation at our hospital. CASE PRESENTATION: The patient displayed a ruddy complexion, deepening pigmentation in the limbs and abdomen, visible reticular skin pattern changes, and pronounced abdominal striae. Diagnostic investigations included a renal biopsy, which confirmed focal segmental glomerulosclerosis, and an abdominal enhanced CT scan, suggesting hepatic sinusoidal obstruction syndrome. Hematological tests revealed elevated white blood cell count (19.73 × 10/L), hemoglobin level (183 g/L), and platelet count (395 × 10/L). Bone marrow morphology indicated proliferation of red blood cells, white blood cells, and platelets, suspicious for myeloproliferative neoplasm. PCR testing confirmed the presence of the JAK2 V617F mutation, leading to a diagnosis of polycythemia vera. The patient was administered a comprehensive treatment regimen consisting of methylprednisolone, telmisartan, rivaroxaban, furosemide, and spironolactone. This therapeutic approach led to a decrease in the patient's weight and 24-h urinary protein, along with a significant reduction in pleural and abdominal effusions. CONCLUSION: This case underscores the significance of a meticulous diagnostic process in uncovering multiple concurrent severe pathologies presenting with nonspecific symptoms. It also highlights the importance of a targeted treatment strategy to achieve clinical improvement. The successful management of this patient's complex case illustrates the value of a multidisciplinary approach in addressing polycythemia vera, hepatic sinusoidal obstruction syndrome, and focal segmental glomerulosclerosis.
Case Rep Gastroenterol
· 2025 · PMID 40641886
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INTRODUCTION: Portal vein thrombosis (PVT) is a critical factor in portal hypertension, often linked to liver disease but also occurring independently. Superior mesenteric vein thrombosis and PVT can lead to mesenteric i...INTRODUCTION: Portal vein thrombosis (PVT) is a critical factor in portal hypertension, often linked to liver disease but also occurring independently. Superior mesenteric vein thrombosis and PVT can lead to mesenteric ischemia, even without predisposing hepatic or abdominal conditions. While acute or chronic PVT may present with variable occlusion, the development of intestinal strictures is rare. Persistent symptoms necessitate close follow-up for early detection and timely intervention. CASE PRESENTATION: A male patient in his early 40s presented with 15 days of progressive upper abdominal pain and one day of vomiting. He had a history of diabetes and hypertension. Examination revealed tachycardia and epigastric tenderness. Laboratory tests showed neutrophilic leukocytosis and positive occult blood in the stool. Contrast-enhanced CT (CECT) revealed PVT extending into its right branch, jejunal wall thickening, and mesenteric engorgement suggestive of ischemia. Upper GI endoscopy showed esophageal varices and portal hypertensive gastropathy. He was managed conservatively with anticoagulation and discharged. One month later, he returned with recurrent vomiting, worsened by solid food. Repeat CECT showed jejunal obstruction with a 3-cm stricture. Exploratory laparotomy revealed dense adhesions; adhesiolysis, bowel resection, anastomosis, and feeding jejunostomy were performed. Histopathological examination showed a sealed-off perforation with acute suppurative inflammation and fibrotic changes consistent with ischemic stricture. CONCLUSION: While mesenteric venous thrombosis is primarily managed with anticoagulation, progressive bowel strictures may develop over time, necessitating surgical intervention. Long-term follow-up is crucial, as delayed complications can arise despite initial success in preventing infarction.
Case Rep Gastroenterol
· 2025 · PMID 40635759
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INTRODUCTION: It is common for advanced pancreatic adenocarcinoma to infiltrate the gastric wall, and the tumor cells invading the gastric wall are usually consistent with pancreatic adenocarcinoma. However, it is very r...INTRODUCTION: It is common for advanced pancreatic adenocarcinoma to infiltrate the gastric wall, and the tumor cells invading the gastric wall are usually consistent with pancreatic adenocarcinoma. However, it is very rare for the tumor cells infiltrating the gastric wall to be squamous cell carcinoma. CASE PRESENTATION: In this case, we report a 57-year-old man who presented with weight loss for 2 months. CT revealed a pancreatic mass. Endoscopic ultrasound biopsy of the pancreatic mass confirmed pancreatic adenocarcinoma. He refused treatment. Eight months later, he developed melena. CT revealed that the pancreatic mass had invaded the gastric wall. Gastric squamous cell carcinoma was confirmed by biopsy of gastric tissue under gastroscopy. CONCLUSION: By observing the evolution process of this case, we found that the occurrence of gastric squamous cell carcinoma in this case was consistent with one of its pathogenesis: the theory of adenocarcinoma differentiating into squamous cell carcinoma. It provides certain clinical significance for the study of the mechanism of gastric squamous cell carcinoma.
Takada S, Yata Y, Ishizu H
… +7 more, Inoue Y, Kuroda T, Ikeda S, Jogo A, Yamamoto A, Higashiyama H, Kawada N
Case Rep Gastroenterol
· 2025 · PMID 40607261
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INTRODUCTION: We report an exceedingly rare case of hepatocellular carcinoma (HCC) associated with an idiopathic congenital forearm arteriovenous fistula (AVF). Given the absence of previous reports addressing the treatm...INTRODUCTION: We report an exceedingly rare case of hepatocellular carcinoma (HCC) associated with an idiopathic congenital forearm arteriovenous fistula (AVF). Given the absence of previous reports addressing the treatment of HCC in patients with AVF, we evaluate HCC treatment strategies, including the appropriateness of using angiogenesis inhibitors. CASE PRESENTATION: A 74-year-old man was admitted for the evaluation of liver tumors. His medical history included a chronic, intractable idiopathic right forearm AVF, for which he had undergone multiple surgical interventions. Abdominal EOB-MRI revealed multiple small focal lesions across both liver lobes during the hepatobiliary phase, indicative of multiple HCC, and liver biopsy confirmed early-stage HCC. Considering the potential presence of additional vascular anomalies similar to the forearm AVF, local hepatic artery chemoembolization was performed. Since there is still insufficient discussion about the systemic administration of angiogenesis inhibitors to patients with vascular abnormalities such as AVF, we discuss the treatment options for HCC with AVF, including its strategies in the progressed HCC stage. CONCLUSION: As molecularly targeted therapies continue to evolve, recognizing the unique aspects of cases like ours is crucial. Establishing an appropriate treatment strategy for HCC patients with AVF is imperative, highlighting the need for tailored therapeutic approaches based on individual vascular profiles.
Case Rep Gastroenterol
· 2025 · PMID 40607260
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INTRODUCTION: Angiosarcomas, constituting less than 1% of all sarcomas, are rare soft tissue tumors originating from the endothelial cells. Hepatic angiosarcoma (HAS) is a rare and aggressive primary hepatic malignancy a...INTRODUCTION: Angiosarcomas, constituting less than 1% of all sarcomas, are rare soft tissue tumors originating from the endothelial cells. Hepatic angiosarcoma (HAS) is a rare and aggressive primary hepatic malignancy accounting for only 0.5%-2% of all liver tumors. The patients often endorse nonspecific symptoms like vague abdominal pain, nausea, vomiting, and jaundice making the diagnosis challenging. Most patients succumb to death within 6 months of diagnosis due to liver failure or hemorrhage from spontaneous rupture of HAS. Therapeutic guidelines remain undefined, and management often involves a multidisciplinary approach. Surgical resection is the only potentially curative option, which has been shown to be most beneficial when HAS is limited to one lobe. Hepatic artery embolization is used in the case of rupture of HAS. Chemotherapy can be used for palliative care in cases of advanced tumors. We present a fatal case of metastatic HAS to underscore diagnostic pitfalls and therapeutic challenges. CASE DESCRIPTION: A 56-year-old male presented with 2 months of abdominal pain, distension, fatigue, and weight loss. Imaging revealed multifocal hypodense liver and splenic lesions. Laboratory findings included severe anemia (Hb 6.1 g/dL), thrombocytopenia (63 × 10/mm), and elevated liver enzymes. Ascitic fluid analysis demonstrated exudative, bloody ascites (SAAG <1.1) without malignant cytology. Liver biopsy confirmed HAS, showing atypical spindle cells infiltrating vascular channels, positive for CD34 and factor VIII. Despite transfusions, paracentesis, and palliative care, the patient developed disseminated intravascular coagulation and died 2 weeks post-diagnosis. CONCLUSION: HAS is a rapidly fatal malignancy often diagnosed at advanced stages due to nonspecific symptoms and lack of definitive risk factors in most cases. Multidisciplinary collaboration is essential for symptom management, though treatment options remain limited, and prognosis is poor. Therefore, it becomes imperative for clinicians to keep in mind the common presentation of a rare but lethal disease.
Vasireddy R, Gaddipati G, Bilalaga MM
… +5 more, Garg A, Chalasani P, Xing D, Sankineni A, Gurm H
Case Rep Gastroenterol
· 2025 · PMID 40607259
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INTRODUCTION: Zollinger-Ellison syndrome (ZES) is a rare entity consisting of tumors called gastrinomas in the stomach, pancreas, and duodenum. It usually presents with symptoms of acid hyper secretion including abdomina...INTRODUCTION: Zollinger-Ellison syndrome (ZES) is a rare entity consisting of tumors called gastrinomas in the stomach, pancreas, and duodenum. It usually presents with symptoms of acid hyper secretion including abdominal pain, diarrhea, nausea, and vomiting and can be misdiagnosed as peptic ulcer disease, hiatal hernia, and gastroesophageal reflux disease. CASE PRESENTATION: We report a case of ZES presenting duodenal perforation and later mimicking a hiatal hernia. This case highlights a complex presentation and underscores the importance of thorough evaluation, multidisciplinary management, and including rare diagnosis in the differential. Our patient presented to the hospital with nausea, back pain, and abdominal pain, and imaging demonstrated a perforated duodenum which was managed with surgical repair. Following surgery, the patient continued to have worsening nausea and acid reflux which was deemed to be due to a hiatal hernia noted on prior imaging until an esophagogastroduodenoscopy (EGD) was performed which confirmed the diagnosis of ZES. CONCLUSION: Our case emphasizes the importance and necessity of doing an EGD in a timely fashion to ensure that a diagnosis of rare ZES is not missed.
Sawa T, Dohi O, Iwai N
… +7 more, Yamauchi K, Seya M, Miyazaki H, Fukui H, Kitae H, Ishida T, Itoh Y
Case Rep Gastroenterol
· 2025 · PMID 40589960
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INTRODUCTION: Esophageal leiomyomas are relatively common benign esophageal submucosal tumors (SMTs). Generally, benign tumors do not accumulate fluorine-18-fluorodeoxyglucose (FDG), but it is not rare for FDG to accumul...INTRODUCTION: Esophageal leiomyomas are relatively common benign esophageal submucosal tumors (SMTs). Generally, benign tumors do not accumulate fluorine-18-fluorodeoxyglucose (FDG), but it is not rare for FDG to accumulate in uterine, duodenal, or esophageal leiomyomas. In our case, we performed peroral endoscopic tumor resection (POET) for an esophageal leiomyoma with FDG accumulation. CASE PRESENTATION: A 40-year-old female with a history of surgery for right breast cancer underwent fluorine-18-fluorodeoxyglucose-positron emission tomography for surveillance examination and had no specific symptoms or notable clinical findings. A subepithelial tumor with intense FDG uptake (SUVmax, 5.49) was detected in the middle thoracic esophagus. The lesion appeared as a low-absorption area on contrast-enhanced CT and was confirmed to have an equivalent signal level as muscle tissue on MRI T2WI. Endoscopic examination revealed SMT 25 cm from the incisors. Endoscopic ultrasonography (EUS) revealed a 20 mm low-luminance mass, mainly located in the second and third layers. The histopathology diagnosis by EUS-fine-needle aspiration was leiomyoma. We decided to treat it with POET because malignancy could not be ruled out. The tumor was excised en bloc using POET without severe complications. The tumor diameter was 19 × 15 mm, and disordered spindle cells were observed. Desmin and αSMA were positive, and S100 protein was negative on immunohistochemical study. Therefore, the pathological diagnosis was a leiomyoma. CONCLUSION: In the present case, glucose transporter 1 expression was negative; however, we examined why the leiomyoma accumulated FDG. We suggest that awareness of leiomyoma with the accumulation of FDG exists in clinical practice.