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  • Difficult Diagnosis
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Articles published on Diagnostic Dilemma

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  • New
  • Research Article
  • 10.1097/mcp.0000000000001261
Immunocompromised host pneumonia: a shifting landscape of risk.
  • May 1, 2026
  • Current opinion in pulmonary medicine
  • Alejandra García-Martínez + 1 more

Immunocompromised host pneumonia (ICHP) is an infectious pneumonia that occurs in individuals with quantitative or functional impairment of host immune defenses. The heterogeneity of immune deficiencies has further diversified the immune landscape, leading to novel patterns of infection and diagnostic dilemmas, harboring a broader, more opportunistic spectrum of pathogens, and increasing the risk of treatment failure and adverse outcomes, profoundly influencing susceptibility to pathogens, clinical presentation, and response to treatment. This review focuses on ICHP, including solid organ transplants and hematopoietic stem cell transplant recipients, patients undergoing cancer therapy, and individuals receiving immunomodulatory treatments for autoimmune diseases. These groups represent a growing segment of the population, driven by advances in transplantation, oncology, and rheumatology, but they also carry a disproportionately high burden of severe infections.

  • New
  • Research Article
  • 10.1016/j.clinimag.2026.110771
Extrinsic versus intrinsic stenosis as a means of clinical triage for patients with symptomatic dural venous sinus stenosis.
  • May 1, 2026
  • Clinical imaging
  • Nisharg Parikh + 16 more

Extrinsic versus intrinsic stenosis as a means of clinical triage for patients with symptomatic dural venous sinus stenosis.

  • New
  • Research Article
  • 10.1016/j.cca.2026.120945
Clinical application progress and prospects of non-invasive preimplantation genetic testing (niPGT): A review.
  • May 1, 2026
  • Clinica chimica acta; international journal of clinical chemistry
  • Shaozhe Yang + 5 more

Clinical application progress and prospects of non-invasive preimplantation genetic testing (niPGT): A review.

  • New
  • Research Article
  • 10.7860/jcdr/2026/84906.23331
Erythema Elevatum Diutinum: An Underdiagnosed EntityA Case Report
  • May 1, 2026
  • JOURNAL OF CLINICAL AND DIAGNOSTIC RESEARCH
  • G Sukanya + 3 more

Erythema Elevatum Diutinum (EED), an uncommon form of chronic leukocytoclastic vasculitis presents as reddish-brown plaques and papulonodules primarily affecting the extensor surface. It mimics various cutaneous disorders and hence poses diagnostic difficulties. EED is predominantly seen in middle-aged individuals between fourth and sixth decade. EED can also have various extracutaneous manifestations such as arthralgia, scleritis, panuveitis, ulcerative keratitis and neuropathy indicating circulating immune complexes deposition in several organs. Thereby thorough clinical and systemic examination for early diagnosis and comprehensive management of both skin and extracutaneous findings are essential to prevent complications and further progression. The authors hereby report a case of 47-year-old female with long standing diabetes mellitus presenting with asymptomatic papulonodular lesions over the extensor surface with sensory abnormalities, highlighting the diagnostic dilemma and emphasising the importance of histopathological correlation in arriving at appropriate diagnosis.

  • New
  • Research Article
  • 10.30574/gscarr.2026.27.1.0081
Malignant melanoma masquerading as primary breast carcinoma, a diagnostic dilemma in metastatic disease: Case report and a brief review of the literature
  • Apr 30, 2026
  • GSC Advanced Research and Reviews
  • Jessica Jahoda + 5 more

Metastatic melanoma to the breast is a rare but diagnostically challenging entity, frequently mimicking primary breast carcinoma due to overlapping clinical and radiological features. We present the case of a 59-year-old postmenopausal woman who presented with a progressively enlarging left breast mass and axillary lymphadenopathy, highly suggestive of invasive ductal carcinoma (IDC) on imaging. Initial histopathological examination provisionally favored poorly differentiated ductal carcinoma. However, a comprehensive immunohistochemical (IHC) analysis, revealing negative breast-specific markers (ER, PR, HER2, GATA3, mammaglobin) and strong positivity for melanocytic markers (S100, SOX10, MART-1, HMB-45, Melan-A), which established the diagnosis of metastatic melanoma. Subsequent molecular analysis identified a BRAF V600E mutation, and a small rectal mass that ultimately identified as the primary site. The patient achieved a sustained partial response with anti-PD-1 immunotherapy. This case features the critical importance of a high index of suspicion and thorough IHC evaluation in atypical breast presentations, even in the presence of compelling clinical and radiological evidence for primary breast cancer. It highlights a significant diagnostic dilemma and the transformative impact of precision oncology in managing such rare metastatic melanoma to the breast.

  • New
  • Research Article
  • 10.1186/s43055-026-01751-x
First Paediatric case of Cardiac composite Hemangioendothelioma
  • Apr 27, 2026
  • Egyptian Journal of Radiology and Nuclear Medicine
  • Shrinivas Yuvan Shanmuga Sundaram

Abstract Background Primary cardiac tumours in children are exceptionally rare. Majority are benign, with only about 10% being malignant; rhabdomyosarcoma is reported to be the commonest variety . We present the first paediatric case of a rare vascular tumour in an extremely rare location (right atrium) hitherto unreported in literature. Childhood cardiac tumour may go unnoticed, so we need to know its presentations, age groups involved, correlative radiological findings and histology. Confirmation is based on the histological distinction of various closely related cardiac tumours. Diagnostic dilemmas arise in differentiating cardiac angiosarcoma from composite hemangioendothelioma as in our case. Accurate identification of primary pathology is imperative for guiding management and prognostication. Case Report A 12-year-old girl presented with cough, abdominal pain, dizziness, and loss of consciousness. On evaluation, tumour in right atrium was identified along with massive haemorrhagic pericardial and bilateral pleural effusion raising the suspicion of rhabdomyosarcoma. Salient imaging findings in this case include a large right atrial mass with massive pericardial effusion and cardiac tamponade on echocardiography. Contrast enhanced computed tomography (CECT) provided better characterisation of the primary mass lesion with minimal post-contrast enhancement. Cardiac magnetic resonance imaging (CMR) additionally revealed accurate localisation of mass along right atrial free wall an associated large thrombotic component; areas of subtle hyper vascularity, STIR hyper intensity and LGE (late gadolinium enhancement) within the lesion. Histology and double staining immunohistochemistry (IHC) revealed a composite hemangioendothelioma of cardiac origin (HE). Patient underwent excision of myocardial mass and has recently completed the first cycle of chemotherapy. Conclusion Differentiating Cardiac HE from angiosarcoma is imperative given the poor prognosis of angiosarcomas and better outcomes in the former. CMR was helpful in aiding the diagnosis of such rare and remotely located tumours. In general, the prognosis in HE is reported as favourable, with a 50% risk of local recurrence and a low risk of lymph nodal or distant metastases. This case highlights that all paediatric tumours however rare must undergo all battery of investigations so that one can achieve the highest clinical outcome.

  • New
  • Research Article
  • 10.1177/10935266261440599
Clinical Significance of Renal Tissue in Neonatal Sacrococcygeal Teratoma: A Case Report With Review of Literature.
  • Apr 24, 2026
  • Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society
  • Alessio Conte + 10 more

Congenital sacrococcygeal teratomas (SCTs) are rare tumors with highly variable prognosis, influenced by associated abnormalities and marked histological heterogeneity. SCTs may exhibit somatic renal differentiation, encompassing a wide spectrum of cytological and architectural features, for which accepted diagnostic criteria are lacking. This renders the distinction between immature nephrogenic tissue and true nephroblastoma particularly challenging. We report an illustrative neonatal case of SCT containing a minor nephroblastomatous component and conducted a systematic review to evaluate management and outcomes in newborns (≤28 days old) with renal tissue identified within SCTs. A comprehensive search of PubMed, Scopus, and Web of Science yielded 532 records, of which 16 studies met inclusion criteria. Including the present case, 19 newborns were analyzed. Renal tissue was described as immature or ectopic nephrogenic tissue in 15 cases (79%) and as overtly malignant, consistent with Wilms tumor, in 4 cases (21%). All patients underwent surgical resection, while chemotherapy (n = 5; 26.3%) and radiotherapy (n = 2; 10.5%) were less frequently administered. Median follow-up was 29.5 months (range: 4-154), with no cancer-related mortality. In the absence of standardized diagnostic criteria, renal differentiation within SCTs represents a diagnostic and therapeutic dilemma, supporting a cautious, multidisciplinary management approach.

  • New
  • Research Article
  • 10.1159/000551213
Cecoureterocele Presenting as an Urethral Mass in a Infant Female: A Rare Case Report
  • Apr 24, 2026
  • Biomedicine Hub
  • Anant Kumar + 4 more

Introduction: Cecoureterocele is an uncommon variant of ureterocele characterized by submucosal extension of the ureterocele beyond the bladder neck into the urethra. It is usually associated with duplex collecting systems and is more commonly encountered in pediatric female patients. Clinical manifestations range from asymptomatic hydronephrosis to a prolapsing urethral mass, often posing diagnostic dilemmas. Case Presentation: We report the case of an 8-month-old female who presented with crying during micturition, a narrow urinary stream, and an intermittent prolapsing mass per urethra. Imaging demonstrated bilateral complete duplex collecting systems with left upper moiety gross hydronephrosis. DMSA scan revealed poor function of the left upper moiety. Cystoscopy identified a left ectopic ureteric orifice inferomedially to the native ureteric orifice with a ureterocele protruding into the urethra. Endoscopic decompression via transurethral incision (TUI) using a Bugbee electrode resulted in immediate decompression. The infant had an uneventful postoperative recovery, with resolution of symptoms and reduced hydronephrosis at 6-month follow-up. Conclusion: Cecoureterocele, though rare, should be suspected in infants presenting with voiding dysfunction and a urethral mass. Early diagnosis with imaging and minimally invasive decompression via endoscopic incision offers excellent outcomes, preserves renal function, and reduces the need for open surgery.

  • New
  • Research Article
  • 10.9734/ajcrmh/2026/v9i1313
Severe Pancytopenia with Marked Bone Marrow Plasmacytosis in a Young Adult: A Diagnostic Dilemma in Differentiating Reactive Plasmacytosis from Plasma Cell Dyscrasia
  • Apr 22, 2026
  • Asian Journal of Case Reports in Medicine and Health
  • Safaa Mhaber + 3 more

Severe Pancytopenia with Marked Bone Marrow Plasmacytosis in a Young Adult: A Diagnostic Dilemma in Differentiating Reactive Plasmacytosis from Plasma Cell Dyscrasia

  • New
  • Research Article
  • 10.4103/aip.aip_106_23
Diagnostic Dilemma – Hashimoto’s Encephalopathy in Treatment-resistant Schizophrenia
  • Apr 22, 2026
  • Annals of Indian Psychiatry
  • Pradnya Kasar + 2 more

Abstract Hashimoto’s encephalopathy is a rare neuropsychiatric entity characterized by pleomorphic presentations. Although classically described as a corticosteroid responsive autoimmune encephalopathy, the treatment itself may complicate symptoms in an already diagnosed case of schizophrenia. Here, we report the case of a 31-year-old male, diagnosed case of treatment-resistant schizophrenia, who was incidentally diagnosed with autoimmune encephalitis during routine blood work up. The diagnosis was confirmed with an endocrinologist as well a neurologist. The patient showed aggravation of symptoms on steroid, hence was given thyroxine only. He was started on clozapine but due to minimal improvement was augmented with thrice a week electroconvulsive therapy. The patient showed improvement in symptoms and is regularly following up on outpatient basis. Our case illustrates the diagnostic dilemma regularly faced by psychiatrists while treating cases of treatment resistance and the need to unravel autoimmune etiologies for designing effective treatment modalities.

  • New
  • Research Article
  • 10.5114/reum/219204
Hepatitis E virus: an underrecognized clinical challenge
  • Apr 21, 2026
  • Rheumatology
  • Piotr Kacprzyk + 3 more

Introduction Hepatitis E virus (HEV) is a widespread, while epidemiologically underassessed, single-stranded, positive-sense RNA virus. Of the four main genotypes, genotypes 1 and 2 occur rather in developing countries, genotype 3 is most common in Europe, and genotype 4 causes infections in East Asia. Risk factors for infection between genotypes include sanitary conditions and drinking contaminated water for genotypes 1 and 2, and consumption of undercooked pork or wild boar meat for genotypes 3 and 4. Receiving blood transfusions is also associated with the risk of transmission. Hepatitis E virus has recently become the subject of interest beyond the field of infectious disease specialists, as the focus is gradually shifting towards its occurrence in the immunocompromised. It is important to raise awareness among healthcare professionals who may encounter patients with this condition. Therefore, this review aims to provide an up-to-date synthesis of the literature on the topic. Material and Methods The Scopus database was queried with the following search terms: “hepatitis E virus”, “HEV”, “rheumatology”, “connective tissue disease”. Results Of the 277 results obtained, 105 articles were then selected to be included in the review. Discussion While HEV infection may be asymptomatic, the typical course involves acute hepatitis. Chronic infections also occur, especially in immunocompromised individuals, which also involves those treated for rheumatologic diseases. Genotype 3 and 4 infections are associated with extrahepatic manifestations, such as neurological symptoms, renal complications, acute pancreatitis, cryoglobulinemia, and vasculitis. Molecular mimicry is the proposed mechanism underlying these conditions. The infection is usually self-limiting and does not require treatment. However, patients undergoing immunosuppressive therapy may need a dose reduction or even complete withdrawal from the therapy. Off-label use of ribavirin may be considered. Conclusions The HEV infection in immunocompromised patients may be severe, leading to diagnostic challenges, severe complications, and treatment dilemmas. To establish optimal prevention and treatment strategies, further research is required

  • New
  • Research Article
  • 10.25258/ijddt.16.15s.78
Acute Myeloid Leukemia Unveiled in a Dengue- Positive Patient: A Dual Diagnostic Dilemma
  • Apr 21, 2026
  • International Journal of Drug Delivery Technology
  • Anupriya Sethubaskaran + 4 more

Hematologic aberrations, such as thrombocytopenia and leukopenia, commonly occur in patients with dengue fever and occur in tandem with malignant hematologic disorders; therefore, these two diseases frequently overlap for differential diagnostic purposes in endemic areas. A case report is presented for a 35-year-old male patient who had been diagnosed with dengue fever based on the history of low-grade fever, myalgias, retro-orbital pain, and dysuria for the past ten days, as well as positive NS1 and IgM from outside laboratory analysis. Because the patient had persistent cytopenias that were beyond the expected duration of the course of dengue fever, he underwent further evaluation. A peripheral blood smear revealed more than 35% of the cells to be blasts with Sudan Black B positivity, and a bone marrow aspirate showed hypercellularity with greater than 60% of myeloblasts present. This allowed for confirmation of acute myeloid leukemia diagnosis. The patient was started on the standard “7+3” regimen of cytarabine and daunorubicin; however, he rapidly deteriorated and died within 7 days. Patients with dengue fever who develop persistent cytopenias should evaluate for the presence of hematologic malignancies.

  • New
  • Research Article
  • 10.1093/bjrcr/uaag013
Diagnostic Dilemma: A Large Pancreatic Lipoma Initially Misdiagnosed as Liposarcoma on CT Imaging
  • Apr 20, 2026
  • BJR|Case Reports
  • Saeed Mohammadzadeh + 4 more

Abstract Pancreatic lipomas are exceptionally rare benign mesenchymal tumors that may closely resemble well-differentiated liposarcomas on imaging, particularly when large or atypical. We report the case of a 60-year-old man who presented with abdominal pain, nausea, and vomiting, and was found to have a large fat-containing mass in the pancreatic head on computed tomography. Imaging characteristics—including size, mild heterogeneity, and a cystic component—raised strong suspicion for a well-differentiated liposarcoma. Due to diagnostic uncertainty and potential oncologic risk, the patient underwent a pancreaticoduodenectomy (Whipple procedure). Histopathological evaluation revealed a benign pancreatic lipoma composed of mature adipocytes without atypia or lipoblasts. This case highlights the diagnostic limitations of imaging in differentiating benign from malignant fat-containing pancreatic lesions and underscores the essential role of histopathology for definitive diagnosis. Surgical resection remains crucial when imaging is inconclusive or when malignancy cannot be confidently excluded.

  • New
  • Research Article
  • 10.1093/icvts/ivag121
Corynebacterium striatum infection in incision and thoracic cavity with concurrent CRKP colonization following lung and bladder tumor resection
  • Apr 20, 2026
  • Interdisciplinary CardioVascular and Thoracic Surgery
  • Xiaorong Li + 1 more

Abstract Corynebacterium striatum, a commensal of skin and mucosa, is an emerging opportunistic pathogen. We report a rare case of postoperative incision and thoracic infection caused by C. striatum with concurrent pulmonary colonization by carbapenem-resistant Klebsiella pneumoniae (CRKP). Following resection of lung and bladder tumors, the patient developed fever, pleural effusion, and poor wound healing. Sputum cultures suggested CRKP colonization, while pleural fluid cultures identified C. striatum as the true pathogen. Clinical pharmacy consultation was pivotal in resolving this diagnostic dilemma. Guided by literature review and clinical presentation, targeted vancomycin therapy against C. striatum was initiated, leading to successful infection control. This case highlights that C. striatum should be considered a potential pathogen in postoperative patients with malignancy or invasive procedures. It is often multidrug-resistant but susceptible to glycopeptides like vancomycin. When multidrug-resistant organisms such as CRKP are also present, a comprehensive assessment integrating clinical, microbiological, and imaging data is essential to distinguish colonization from infection. This precision prevents unnecessary broad-spectrum antibiotic use, curbs resistance, and underscores the critical role of clinical pharmacists in managing complex infections through multidisciplinary collaboration.

  • New
  • Research Article
  • 10.1007/s12328-026-02337-w
A diagnostic dilemma: abdominal tuberculosis mimicking suspected Crohn's disease or latent tuberculosis activated by biologic therapy.
  • Apr 19, 2026
  • Clinical journal of gastroenterology
  • Anthony Papale + 5 more

A diagnostic dilemma: abdominal tuberculosis mimicking suspected Crohn's disease or latent tuberculosis activated by biologic therapy.

  • New
  • Research Article
  • 10.1016/j.jaip.2026.03.041
From CVID to PIRD: Genetic testing Leading to Signal Transducer and Activator of Transcription (STAT) 3 Gain-of-Function Diagnosis and Directed Therapy.
  • Apr 16, 2026
  • The journal of allergy and clinical immunology. In practice
  • Lang Anna + 6 more

From CVID to PIRD: Genetic testing Leading to Signal Transducer and Activator of Transcription (STAT) 3 Gain-of-Function Diagnosis and Directed Therapy.

  • New
  • Research Article
  • 10.1097/rc9.0000000000000459
Not all masses are metastases: a diagnostic dilemma resolved – synchronous HER2-positive breast cancer and renal oncocytoma
  • Apr 13, 2026
  • International Journal of Surgery Case Reports
  • Neelesh Shrivastava + 2 more

Introduction: In oncology, the discovery of a synchronous renal mass during breast cancer staging often signifies metastatic disease, drastically altering prognosis and management. We present a critical case where this assumption was challenged by a rare benign entity, renal oncocytoma, highlighting a pivotal diagnostic crossroads. Case presentation: A 48-year-old woman presented with a right breast lump. Biopsy confirmed HER2-positive invasive carcinoma. Staging positron emission tomography computed tomography revealed an 18F- fluorodeoxyglucose (FDG)-avid left renal mass, highly suspicious for metastasis. A subsequent renal biopsy revealed an oncocytic neoplasm. This finding prompted a curative-intent strategy: the patient underwent simultaneous right breast-conserving surgery and left laparoscopic partial nephrectomy. Final histopathology confirmed stage pT1N0 breast cancer and renal oncocytoma. The patient recovered well and received adjuvant paclitaxel-based chemotherapy with trastuzumab, followed by radiation to the breast, and is planned for continuation of trastuzumab to complete 1 year of anti-HER2 therapy. At 6 months of follow-up, the patient remains asymptomatic with no clinical or radiological evidence of disease recurrence. Discussion: This case highlights a critical clinical caveat: benign lesions can masquerade as metastases. Our report describes the management of synchronous HER2-positive breast cancer and renal oncocytoma. It exemplifies how a biopsy-driven approach prevented unnecessary systemic therapy and radical nephrectomy, preserving renal function and upholding curative intent. Conclusion: This experience mandates that tissue confirmation of synchronous lesions be integral to staging protocols. Multidisciplinary review is indispensable for navigating such complex presentations and avoiding therapeutic misadventures.

  • New
  • Research Article
  • 10.36283/ziun-pjmd15-2/007
Age‑Based Differences in Syncope: Incidence, Diagnostic Challenges, and Treatment Strategies in Pediatric vs. Adult Populations Attending a Tertiary Cardiac Center in Pakistan
  • Apr 13, 2026
  • Pakistan Journal of Medicine and Dentistry
  • Fazal Rehman + 2 more

Background:Syncope presents a frequent diagnostic dilemma, particularly in low-resource settings like Pakistan, where age-related variations in presentation and management are poorly characterised. This study sought to compare the clinical profiles, triggers, and recurrence predictors of syncope across paediatric and adult populations attending a tertiary cardiac centre. Methods:A cross-sectional study was conducted at the Department of Cardiology, Quaid-e-Azam Medical College, Bahawalpur, from January 2024 to May 2025. Using non-probability consecutive sampling, 220 patients with recent-onset syncope were enrolled, including 90 paediatric and 130 adult participants. Standardised clinical evaluations and investigations, including ECG, echocardiography, and laboratory parameters, were performed. Data were analysed using Shapiro–Wilk for normality, followed by t-test, Mann–Whitney U, chi-square, and logistic regression for group comparisons and predictors of recurrence. Results:The mean age of participants was 33.1 ± 18.7 years, with males comprising 55.9%. Vasovagal syncope was most prevalent (50.5%), and cardiac syncope was more frequent in adults (χ² = 22.03, p < 0.001). Adults showed higher serum glucose (163.5 mg/dL, IQR: 128.1–201.4, p < 0.001) and electrolyte levels (138.7 mEq/L, IQR: 137.2–140.9, p = 0.017). Syncope recurrence occurred in 19.1% and was significantly associated with cardiac syncope (OR 3.21, p = 0.001), abnormal echocardiography (OR 2.94, p = 0.007), and psychiatric comorbidity (OR 1.87, p = 0.042). Positive correlations were observed between glucose and episode frequency (ρ = 0.364, p < 0.001). Conclusion:Significant clinical, biochemical, and diagnostic differences were identified between paediatric and adult syncope patients. Cardiac involvement and psychosocial factors emerged as key predictors of recurrence, underscoring the need for age-tailored syncope assessment pathways in Pakistani tertiary care settings.

  • Research Article
  • 10.21275/sr26403091208
Diagnostic Dilemma in Severe Preeclampsia with Posterior Reversible Encephalopathy Syndrome and Neurocysticercosis in a Primigravida
  • Apr 10, 2026
  • International Journal of Science and Research (IJSR)
  • Sinchana M H + 1 more

Diagnostic Dilemma in Severe Preeclampsia with Posterior Reversible Encephalopathy Syndrome and Neurocysticercosis in a Primigravida

  • Research Article
  • 10.1097/md.0000000000048190
Appendiceal abscess complicated by mechanical small-bowel obstruction: a diagnostic and therapeutic challenge: A case report.
  • Apr 10, 2026
  • Medicine
  • Kun Yang + 6 more

Appendiceal abscesses are typically managed conservatively. Mechanical small-bowel obstruction (MSBO) is a rare complication that poses diagnostic and therapeutic dilemmas. A 52-year-old woman with appendiceal abscess, which also manifested as symptoms of intestinal obstruction, was finally confirmed to have MSBO intraoperatively. Appendiceal abscess, MSBO. The patient presented with 5-day migratory right lower quadrant pain. Initial computed tomography suggested appendicitis with possible small-bowel obstruction. Despite the use of aggressive antibiotics and electrolyte correction, the patient developed vomiting, obstruction, and worsening abdominal distension. A repeat computed tomography scan (day 6) confirmed appendiceal abscess with MSBO. Emergency laparoscopy was converted to laparotomy, which revealed a phlegmonous mass compressing the terminal ileum. Intraoperative frozen sections were used to exclude malignancy, and ileocecal resection with ileo-ascending colonic anastomosis was performed. The patient recovered uneventfully after the procedure. The patient resumed bowel function on postoperative day 3 and was discharged on postoperative day 9. At the 6-month follow-up, the patient did not experience any discomfort. MSBO should be suspected when obstruction persists despite appropriate conservative treatment. An appendiceal abscess combined with MSBO requires early surgical intervention when conservative therapy fails. Timely imaging reassessment and multidisciplinary decision-making are critical to avoid delayed management.

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