Clinical Case Summary

Background: Budd-Chiari syndrome (BCS) is an uncommon vascular disorder caused by hepatic venous flow obstruction determining an impaired venous outflow, leading consequently to an increase of sinusoidal and portal pressures and a decreased portal flow. BCS can be subdivided into primary (pBCS), when intrinsic intraluminal thrombosis and stenosis determine the flow-obstruction, or secondary (sBCS) when a malignant (tumor) or benign (abscesses, cysts) masses cause an ab-extrinsic compression of the hepatic veins or Inferior Vena Cava (“IVC syndrome”).
Case presentation: A 66-year-old man affected by urothelial carcinoma was referred to the Urology Department for a cystectomy. In the subsequent 24 hours, massive post-procedural bleeding determining severe hypotension required Intensive Care Unit management. On the second day, the anuria onset, the hepatomegaly with bilateral leg swelling, in concomitance with Transthoracic Echocardiographic Examination (TTE) findings, induced the suspect of a secondary cause of hypotension. TTE showed an abnormality of cardiac preload reserve, despite preserved kinesis and an extracardiac cystic lesion compressing the IVC just near the atrium.
Abdominal ultrasound (US) highlighted an oval anechoic liver mass (61x44mm) between I and II segments, with sharp smooth borders, strong posterior wall echoes, without septations, mural thickening or nodularity, suggestive of a hepatic simple giant cist. We decided to perform an urgent US-guided percutaneous transhepatic aspiration of the cyst.
Contextually, a significant decrease in cyst dimension (14x17mm) and, more relevantly, a reduction of IVC compression with rapid restoration of the hemodynamic condition configured this procedure as a life-saving approach for the patient.
Conclusion: BCS is a rare medical condition that can potentially determine catastrophic hemodynamic scenarios. An accurate and prompt diagnosis, achievable noninvasively through US-based imaging appears crucial.

References

1. Vladimir B, Amadeo M and Thomas S. Budd–Chiari syndrome: in evolution. European Journal of Gastroenterology & Hepatology 17(1):p 33-35, January 2005.
2. Tomáš G, Lukáš L, Gabriela G, et al.. Budd-Chiari Syndrome Prague Medical Report / Vol. 118 (2017) No. 2–3, p. 69–80
3. Aydinli M, Bayraktar Y. Budd-Chiari syndrome: etiology, pathogenesis and diagnosis. World J Gastroenterol 2007; 13:2693–2696

Introduction

The diagnosis of peritoneal carcinomatosis (PC) poses clinical challenges^[1]. EUS-FNA via gastric or duodenal routes has been validated as an effective method for diagnosing peritoneal lesions^[2]. However, the role of transrectal EUS-FNA in this context remains unexplored. This study evaluates the diagnostic performance, imaging characteristics, and safety of transrectal EUS-FNA in peritoneal lesions.

Aims & Methods

Aim was to evaluate the diagnostic performance, imaging characteristics, and safety of transrectal EUS-FNA in patients with peritoneal lesions.
This retrospective study included 39 patients with radiologically confirmed peritoneal lesions who underwent transrectal EUS-FNA at the Second Affiliated Hospital of Soochow University from January 2018 to April 2025. Inclusion criteria included peritoneal lesions detected by imaging, inability to undergo abdominal paracentesis due to absent or minimal ascites, or repeated negative cytology results. Sensitivity, specificity, and procedural safety were analyzed.

Results

Among the 39 patients, 38 were diagnosed with malignant peritoneal lesions, including metastases from ovarian (n=16), gastric (n=7), and pancreatic (n=4) cancers, among others. One patient had benign peritoneal lesions (ganglioneuroma). Transrectal EUS-FNA demonstrated a sensitivity of 89.4%, specificity of 100%, PPV of 100%, NPV of 20%, and accuracy of 89.7%. Transrectal EUS-guided paracentesis (EUS-P) was performed in 20 cases, yielding a sensitivity of 60% for malignant ascites. No procedure-related complications were observed.

Conclusion

Transrectal EUS-FNA is a reliable and safe diagnostic tool for peritoneal lesions, offering high sensitivity and specificity. Its ability to detect lower pelvic lesions and sample ascitic fluid enhances diagnostic accuracy, making it a valuable alternative or complement to transgastric/transduodenal approaches.

References

1. van Baal JO, Van de Vijver KK, Nieuwland R, et al. The histophysiology and pathophysiology of the peritoneum. Tissue Cell 2017;49:95–105.
2. Sharma V, Rana SS, Ahmed SU, et al. Endoscopic ultrasound-guided fine-needle aspiration from ascites and peritoneal nodules: A scoping review. Endosc Ultrasound 2017;6:382–8.

Clinical Case Summary

Intestinal pseudo-obstruction (IPO) represents an unclarified dysmotility disorder featured by clinic-radiological signs of intestinal obstruction not associated with a well-identifiable organic gastroenterological disease. IPO may occur as a rare complication of autoimmune connectivopathies, including Systemic Lupus Erythematosus (SLE).
We present an SLE-affected 44-year-old man with a history of recurring nonspecific abdominal prokinetics not-responder sub-obstructive episodes.
The patient was admitted to our department for constipation, vomiting, and unintentional weight loss. Clinical examination revealed a family history of eosinophilic gastroenteritis (EG). SLE, diagnosed 5 years before with the onset of LSE-related hepatitis controlled by immunosuppressive therapy (prednisone 0.5 mg/kg/die/4 weeks; prednisone tapering + azathioprine 1 mg/kg/die/12 weeks). Except for LSE serology and malnutrition parameters, laboratory tests, including Systemic Sclerosis screening, presented no significant alterations. Radiologically, X-ray highlighted multiple air-fluid levels; contrast-enhanced CT showed fluid surrounding dilated loops, and fluid-filled ileal loops, without evidence of organic intrinsic/ab-extrinsic obstruction, perforation, or extraluminal gas.
In light of these findings, stenosing-pattern Crohn's disease (CD) and strictures-complicated EG were mainly suspected. Therefore, we confidently performed a colonoscopy with the histological examination resulting inconclusive for CD and EG. He was managed conservatively with nasogastric decompression, immunosuppressive therapy, and parenteral nutrition. Unfortunately, two weeks after, the worsening symptoms required a lifesaving right hemicolectomy with an ileostomy. Surgical histology showed an SLE fibro-inflammatory pattern, not-sparing the enteric plexus, suggestive of IPO.
IPO should be suspected in SLE patients presenting treated-unresponsive GI symptoms. Its early recognition is prognostically crucial.

References

• Downes TJ, Cheruvu MS, Karunaratne TB, De Giorgio R, Farmer AD. Pathophysiology, Diagnosis, and Management of Chronic Intestinal Pseudo-Obstruction. J Clin Gastroenterol. 2018 Jul;52(6):477-489. doi: 10.1097/MCG.0000000000001047. PMID: 29877952.
• Ohri AJ, Shah CG, Udani AH. Intestinal Pseudo-Obstruction - An Under-Recognized Presentation of Systemic Lupus Erythematosus. Indian J Nephrol. 2022 Sep-Oct;32(5):476-479. doi: 10.4103/ijn.IJN_494_20. Epub 2022 Aug 8. PMID: 36568587; PMCID: PMC9775609.
• Mok MY, Wong RW, Lau CS. Intestinal pseudo-obstruction in systemic lupus erythematosus: an uncommon but important clinical manifestation. Lupus. 2000;9(1):11-8. doi: 10.1177/096120330000900104. PMID: 10713642.

Clinical Case Summary

Background: Juvenile polyposis syndrome (JPS) is a rare inherited autosomal dominant disease predisposing to the development of hamartomatous polyps along the gastrointestinal (GI) tract. JPS patients face a significantly higher risk of colorectal cancer (CRC), which makes endoscopic screening mandatory. JPS phenotype in patients with SMAD4 gene mutation, probably due to the dysregulation in the transforming growth factor β (TGF-β)–mediated pathways, is featured by several extraintestinal manifestations, including cutaneous and congenital abnormalities (predominantly, cardiovascular).
Case presentation: Two male brothers, aged 24 and 28 respectively, with a family history of colorectal polyposis and CRC were admitted to our Department in November 2023. For both, the colonoscopy revealed multiple GI polyps, histologically compatible with hamartomatous lesions. Next Generation Sequencing (NGS) analysis was then requested.
In the following 8 weeks, the older brother experienced a cerebral stroke, and a patent foramen ovale (PFO) was detected as the cause of this acute cerebrovascular event determining a permanent neurological impairment. Considering this, a cardiological work-up aiming to assess the same cardiac defect was performed and PFO was finally diagnosed also in the younger brother, as well as a prompt percutaneous PFO closure was disposed for both to prevent further cardiovascular accidents.
Finally, NGS analysis identified a single nucleotide mutation in the locus of the SMAD4 gene (18q21.1) confirming the diagnosis of JPS and the reported events as crucial extra-GI JPS manifestations.
Conclusion: The reported association between SMAD-4 mutation-related JPS and cardiovascular disorders, potentially leading to acute cerebrovascular accidents, highlights the need for an appropriate preventive cardiological workup in young patients for which endoscopy reveals multiple GI tract polyps.

References

[1] Cichy W, Klincewicz B, Plawski A. Juvenile polyposis syndrome. Arch Med Sci. 2014 Jun 29;10(3):570-7. doi: 10.5114/aoms.2014.43750. Epub 2014 Jun 27. PMID: 25097590; PMCID: PMC4107262.
[2] Dal Buono A, Gaiani F, Poliani L, Laghi L. Juvenile polyposis syndrome: An overview. Best Pract Res Clin Gastroenterol. 2022 Jun-Aug;58-59:101799. doi: 10.1016/j.bpg.2022.101799. Epub 2022 Apr 4. PMID: 35988962.
[3] Harris RE, Russell RK. BMPR1A mutation-positive juvenile polyposis syndrome and atrial septal defect: coincidence or association? BMJ Case Rep. 2019 Jun 21;12(6):e229881. doi: 10.1136/bcr-2019-229881. PMID: 31229977; PMCID: PMC6605934.

Clinical Case Summary

Introduction: Superior Mesenteric Vein (SMV) Thrombosis accounts for only 5% of all cases of intestinal ischemia. As opposed to acute mesenteric ischemia secondary to an arterial thrombus which has a more drastic presentation, SMV thrombus typically presents with non-specific signs and symptoms. Rarely, when venous congestion leads to bowel wall edema which can consequently head to intestinal obstruction.
Case presentation: We present the case of a 47-year-old male presenting with severe generalized abdominal pain and vomiting. Abdominal CT findings were suggestive of small bowel obstruction and venous thrombosis. CT angiogram confirmed SMV thrombus which was visualized as severe narrowing of the SMV at the midabdomen a few centimeters above the umbilicus, with consequent congestion and decreased contrast enhancement proximal to the area of narrowing. The patient was initially managed conservatively with anticoagulation, however the patient did not improve clinically. Since there were no signs of infarction or peritonitis that would warrant immediate surgical intervention, an alternative approach using endovascular technique was attempted. The patient underwent SMV stenting which subsequently relieved the obstruction.

References

1. Treatment of superior mesenteric and portal vein thrombosis with direct thrombolytic infusion via an operatively placed mesenteric catheter; https://pubmed.ncbi.nlm.nih.gov/1527918
2. A systematic review of the management of acute superior mesenteric vein thrombosis in adults https://mednexus.org/doi/full/10.1097/JP9.0000000000000051
3. Naffouj S, Al-Shammari M, Salgia R. Treatment of colonic varices with a superior mesenteric venous stent: a case report describing a unique approach. Gastroenterol Rep (Oxf). 2021 Feb 4;9(6):597-600. doi: 10.1093/gastro/goab003. PMID: 34925858; PMCID: PMC8677559
4. Vekariya P, Daneti D, Senthamizhselvan K, et al. (June 14, 2021) Acute Intestinal Obstruction as an Initial Presentation of Mesenteric Venous Thrombosis. Cureus 13(6): e15652. doi:10.7759/cureus.15652

Disclosure

None