Gastric mucosa-associated lymphoid tissue (MALT) lymphoma is a low-grade indolent B-cell non-Hodgkin lymphoma, for which conventional 18F-FDG PET/CT has limited sensitivity in detecting lesions with low proliferative activity. This report describes a 58-year-old male who presented with upper abdominal tenderness and pain, with no gastrointestinal bleeding or weight loss, and a negative Helicobacter pylori test. Contrast-enhanced CT detected gastric wall thickening at the gastric greater curvature, and endoscopic biopsy combined with immunohistochemistry confirmed gastric MALT lymphoma with a low Ki-67 proliferation index of 10%.18F-FDG PET/CT revealed mildly increased metabolism. Dual-modality imaging using 18F-FDG and 68Ga-pentixafor precisely delineated the lesion, assessed lymph node involvement, and determined the clinical stage, providing critical information for clinical treatment decisions. This typical case offers great teaching implications for nuclear medicine physicians by highlighting the diagnostic pitfall of weak FDG uptake in low-proliferative gastric MALT lymphoma and demonstrating the incremental value of dual-tracer imaging for standardized staging.
Synchronous primary malignancies involving the pancreas and duodenum are rare and distinguishing them from direct extension or metastatic spread may be difficult in the periampullary region. We report a 73-year-old man who initially presented with upper gastrointestinal bleeding and was later investigated for weight loss, abdominal pain, dyspepsia, and abnormal liver biochemistry. Preoperative imaging and biopsy identified poorly differentiated adenocarcinoma involving the pancreatic and duodenal region, but the relationship between the lesions remained uncertain. Following pancreaticoduodenectomy, two macroscopically separate tumor sites were identified. Histological examination showed that the pancreatic tumor had features of medullary carcinoma, including syncytial growth, pushing borders, marked lymphocytic infiltration, and mismatch repair deficiency. In contrast, the duodenal tumor showed glandular differentiation, infiltrative invasion, and desmoplastic stroma, but also deficient mismatch repair. Lymph node involvement was seen with the pancreatic tumor but not the duodenal lesion. This case suggested that synchronous primary tumors should remain in the differential diagnosis when adjacent periampullary lesions show discordant pathological features, and that definitive classification may require integration of gross examination, morphology, selected immunohistochemistry, mismatch repair status, and nodal disease pattern on the resection specimen. The underlying diagnosis of Lynch syndrome provides a novel pathogenesis for these genetically related yet distinct tumors. This diagnosis was important not only for understanding tumor pathogenesis but also for ongoing surveillance and family counselling.
Down syndrome (DS) is the most common chromosomal abnormality in the human population, most frequently caused by trisomy 21 due to meiotic nondisjunction. Rarely, DS may result from an isochromosome or a Robertsonian translocation, this being the least common variant. We present a rare prenatal case of Down syndrome caused by a derivative chromosome 21, together with a case-based review of previously reported prenatal der(21;21)/i(21q) rearrangements. We report a case of prenatal diagnosis of DS in a 13-week female fetus, characterized by a derivative chromosome 21, der(21;21)(q10;q10), identified by conventional karyotyping and subsequently confirmed by fluorescence in situ hybridization (FISH). First-trimester ultrasonography showed bilateral jugular lymphatic sacs, marked tricuspid regurgitation, and a single umbilical artery. Quantitative fluorescence polymerase chain reaction (QF-PCR) failed to detect the structural chromosomal abnormality. The rearrangement was considered likely de novo based on normal parental karyotypes. Consequently, the empirical recurrence risk is 1% for de novo cases, whereas in families with a parental 21q;21q rearrangement the recurrence risk may approach 100%. This case highlights the importance of integrating detailed ultrasound screening with molecular and cytogenetic techniques, including QF-PCR, conventional karyotyping, and FISH, for accurate prenatal diagnosis of DS. Precise determination of the underlying chromosomal abnormality is essential for providing accurate genetic counseling, estimating recurrence risk, and facilitating informed reproductive planning for the parents.
Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening hyperinflammatory syndrome caused by dysregulated immune activation. Viral infections, particularly Epstein-Barr virus, are well-known triggers; however, HLH associated with acute viral hepatitis is rare, especially in the setting of hepatitis A (HAV) and hepatitis E (HEV) coinfection. A 30-year-old man presented with fever following the onset of jaundice, along with fatigue and dyspnea. Laboratory evaluation revealed severe hyperbilirubinemia, markedly elevated transaminases, anemia, hyperferritinemia, and hypertriglyceridemia. He also had hemolysis due to glucose 6 phosphate dehydrogenase(G6PD) deficiency. Bone marrow examination demonstrated hemophagocytosis. Viral m arkers confirmed HAV and HEV coinfection. Although he fulfilled five out of eight HLH-2004 criteria, sepsis markers like raised procalcitonin and leukocytosis posed diagnostic challenge. He was managed with supportive care alone, and showed spontaneous clinical and biochemical improvement without immunosuppressive therapy. This case highlights a probable HLH spectrum disorder triggered by HAV-HEV coinfection. It underscores the importance of considering HLH in patients with acute viral hepatitis who develop persistent fever and cytopenia, while also recognizing that selected patients may improve with supportive care alone.
Extranodal natural killer/T-cell lymphoma (ENKTL), nasal type, is an aggressive Epstein-Barr virus (EBV)-associated lymphoma that predominantly involves the nasal cavity and upper aerodigestive tract. Primary oral manifestations are rare and may clinically mimic benign inflammatory or infectious conditions, resulting in delayed diagnosis. This report presents a rare case of ENKTL initially manifesting as a rapidly progressive necrotizing palatal ulcer. A 44-year-old man presented with a three-week history of a necrotic ulcer on the posterior hard palate. Imaging revealed extensive midfacial destruction, including palatal perforation, nasal septal erosion, turbinate destruction, ethmoidal involvement, and medial orbital wall extension. Histopathologic examination demonstrated atypical large lymphoid cells with extensive necrosis and infiltration into adipose and muscle tissue. Immunohistochemical staining demonstrated diffuse expression of LCA and CD3, focal expression of CD30, absence of CD20, ALK, and CD56 expression, and a high proliferative activity, as evidenced by a Ki-67 index of approximately 90%. Based on the histomorphologic and immunophenotypic features, extranodal NK/T-cell lymphoma was suspected. Chromogenic in situ hybridization (CISH) for Epstein-Barr virus-encoded RNA (EBER) demonstrated strong nuclear positivity in atypical lymphoid cells, confirming the diagnosis of ENKTL, nasal type. The patient achieved complete remission after chemotherapy; however, eight months later, the patient developed a systemic relapse that was diagnosed as peripheral T-cell lymphoma. This case highlights the diagnostic complexity of ENKTL presenting as a destructive palatal lesion. Comprehensive histopathologic evaluation, detailed immunophenotyping, and EBV confirmation by EBER are essential for accurate diagnosis and timely oncologic management. ENKTL should be considered in the differential diagnosis of rapidly progressive oral necrotic lesions unresponsive to conventional therapy.
Anemia is a nearly universal complication of chronic kidney disease (CKD). While erythropoiesis-stimulating agents (ESAs) are the standard of care, they rarely induce acquired pure red cell aplasia (PRCA) via neutralizing antierythropoietin (anti-EPO) antibodies. Diagnosis is often delayed as clinical focus frequently shifts toward more common causes of acute anemia, such as hemorrhage. An 88-year-old male on maintenance hemodialysis presented with a precipitous hemoglobin drop to 6.8 g/dL. Investigation revealed replete hematinics but profound reticulocytopenia. After excluding occult gastrointestinal bleeding, hemolysis, and nutritional deficiencies, a bone marrow biopsy demonstrated isolated erythroid aplasia with preserved myeloid and megakaryocytic lineages, leading to a diagnosis of PRCA. Anti-EPO antibody testing was not performed, which limits definitive etiological confirmation. Due to the high risk of immunosuppression in an elderly patient and the limited accessibility of hypoxia-inducible factor-prolyl hydroxylase inhibitors (HIF-PHIs), management was restricted to ESA cessation and supportive transfusions. This case highlights the diagnostic approach for severe anemia and the significance of profound reticulocytopenia in PRCA. The definitive hallmark remains the detection of circulating anti-EPO antibodies paired with a bone marrow study demonstrating near-total depletion of erythroid precursors, but preserved myeloid and megakaryocyte lineages. Management includes the permanent cessation of ESAs, immunosuppression to reduce circulating antibodies, and supportive blood transfusions. In chronic hemodialysis patients, early recognition of iatrogenic PRCA is essential to prevent the continued administration of potentially harmful ESAs and to facilitate a transition toward alternative therapies, such as HIF-PHIs.
Background and Aims: Colonoscopy quality assessment is essential for adequate bowel preparation and complete examination, yet even validated tools such as the Boston Bowel Preparation Scale (BBPS) remain partly subjective. We assessed interobserver variability in expert evaluation using a standardized multicenter video dataset. Methods: This retrospective multicenter study included 64 anonymized complete colonoscopy videos from two academic centers. Eight experienced gastroenterologists independently evaluated recordings in randomly assigned pairs. Videos were assessed by five reviewer-pair combinations; individual reviewers evaluated between 10 and 33 examinations, and each pair assessed between 10 and 23 videos. Assessments included segmental and total BBPS scores, bowel preparation adequacy, and recognition of key anatomical landmarks: ileocecal valve, appendiceal orifice, hepatic and splenic flexures, and anal verge. Interobserver agreement was assessed using linear weighted Cohen's kappa for segmental BBPS scores, intraclass correlation coefficient (ICC) for total BBPS score, and Cohen's kappa with overall percent agreement for bowel preparation adequacy and anatomical landmark recognition. Because reviewer pairs varied across examinations, agreement measures were interpreted as pooled pairwise agreement across independent expert assessments. The Wilcoxon signed-rank test was retained as a complementary analysis for paired BBPS score differences. Results: Significant inter-reviewer variability was observed in BBPS scoring. Differences were found for the right colon, transverse colon, left colon, and total BBPS score: 2.42 vs 1.91, p<0.01; 2.47 vs 2.11, p<0.01; 2.44 vs 2.22, p<0.05; and 7.33 vs 6.23, p<0.01, respectively. Overall, bowel preparation adequacy classification did not differ significantly, although discordant judgments occurred in 34% of examinations. Anatomical landmark recognition also varied, particularly for the appendiceal orifice and colonic flexures. Conclusions: Expert-based assessment may show clinically relevant variability despite standardized review conditions, supporting the need for more objective and reproducible approaches to colonoscopy quality control.
Melkersson-Rosenthal syndrome (MRS) is a rare and often challenging condition of unknown etiology, typically defined by a clinical triad of peripheral facial nerve palsy, recurrent orofacial edema, and fissured tongue. Its variable presentation and overlap with allergic reactions, mast cell-mediated disorders, and drug hypersensitivity reactions can delay diagnosis and appropriate management. We report the case of a 43-year-old man with a personal longstanding history of recurrent hemifacial and lip swelling associated with facial nerve palsy and a plicated tongue, fulfilling the complete clinical triad of MRS. Extensive laboratory, immunological, infectious, and allergological investigations ruled out alternative diagnoses, including hereditary angioedema and drug hypersensitivity. Histopathological examination of a lip biopsy did not reveal granulomatous inflammation. The disease was refractory to multiple standard therapies, including antihistamines, corticosteroids, epinephrine, antibiotics, and immunomodulatory agents. Administration of fresh frozen plasma at a dose of 10 ml/kg resulted in a rapid and marked clinical improvement within 6 hours. This case highlights a rare complete presentation of MRS and underscores the challenges in diagnosis and management. The favorable response to fresh frozen plasma suggests a potential therapeutic option in refractory cases; however, further studies are required to clarify its role and mechanism of action in Melkersson-Rosenthal syndrome.
Recurrent seizure-like episodes with preserved motor function and negative conventional investigations pose a significant diagnostic challenge, particularly in elderly patients. We report an elderly patient presenting with recurrent, stereotyped episodes of spatial disorientation and amnesia. Extensive evaluation, including brain MRI, cerebrospinal fluid analysis, electroencephalography, serum tumor markers, and neuronal antibody testing, was unrevealing. The patient did not meet the 2016 criteria for possible autoimmune encephalitis. A previously monitored pulmonary nodule was surgically resected and confirmed as lung adenocarcinoma. Remarkably, neurological episodes completely resolved following tumor resection and did not recur after discontinuation of antiseizure medication during 10 months of follow-up. This case highlights a potential tumor-related seizure-associated network dysfunction in the absence of detectable antibodies or overt limbic inflammation. Careful tumor evaluation should be considered in similar diagnostic dilemmas, even when conventional autoimmune markers are negative.
The endoscopic endonasal approach (EEA) has been increasingly utilized for interventions involving the middle cranial base because of its close anatomical relationship with the nasal cavity and nasopharynx. This technique is widely applied in neurosurgical and otorhinolaryngological practice for the management of pituitary lesions, sellar and parasellar pathologies, sphenoid sinus tumors, cavernous sinus lesions, and tumors of the nasal cavity and nasopharynx, offering improved surgical access and patient comfort. Endoscopic procedures may be associated with serious complications, including intracranial hemorrhage, pneumocephalus, cerebrospinal fluid (CSF) leakage, infection, and cranial nerve injury, which can occur in both early and late postoperative periods. We report a patient who developed early postoperative pneumocephalus, intracerebral hemorrhage, and CSF leakage following endoscopic endonasal biopsy of a lesion adjacent to the mid-cranial base. Based on clinical and radiological findings, the lesion was initially suspected to represent nasopharyngeal carcinoma. Therefore, the patient underwent an endoscopic endonasal biopsy rather than gross total resection. Histopathological and immunohistochemical analyses subsequently established the diagnosis of meningioma. Two weeks postoperatively, the patient developed CSF leakage, pneumocephalus, and intracerebral hemorrhage, and the skull base defect was repaired via an EEA. Subsequently, the patient developed hydrocephalus in the mid-to-late postoperative period, which was successfully treated with ventriculoperitoneal shunt placement, resulting in complete clinical recovery. This case highlights the need for close clinical and radiological follow-up not only in the early period but also in the mid-to-late postoperative periods. Furthermore, radiological findings suggestive of malignancy may be inconsistent with immunohistochemical results; this underscores the critical role of immunohistochemical examination in determining definitive diagnosis and prognosis.
Transvaginal leakage of peritoneal dialysate is an uncommon non-infectious complication of peritoneal dialysis (PD) and may be overlooked in female patients presenting with unexplained vaginal fluid loss. A 78-year-old woman with end-stage renal disease (ESRD) on continuous ambulatory peritoneal dialysis (CAPD) presented with a one-week history of clear per vaginal leakage. This episode developed following an initial presentation of PD peritonitis for which she was receiving antibiotic therapy. She reported the onset of clear vaginal leakage during a routine clinic visit for monitoring of her vancomycin level, prompting her admission for further evaluation. On clinical examination, the patient was afebrile and hemodynamically stable. Abdominal examination was satisfactory, however, speculum examination showed pooling of clear fluid in the vagina without evidence of vaginal or cervical pathology. Subsequent CT peritoneography demonstrated contrast-filled dialysate tracking from the peritoneal cavity, passing through bilaterally patent fallopian tubes into both the endometrial and vaginal cavities. Interestingly, there was no evidence of vaginal wall perforation or an abnormal fistulous connection identified. Given the absence of a correctable fistulous tract, PD was discontinued and the patient was transitioned to hemodialysis, resulting in complete resolution of symptoms. Although rare, physiological tubal patency can provide a conduit for dialysate leakage in PD patients, particularly following recent peritonitis. This mechanism is especially uncommon in post-menopausal women, highlighting the novelty of this case. Clinicians should maintain a high index of suspicion for this rare complication in women presenting with new-onset vaginal fluid loss. Early recognition and appropriate modality change may prevent recurrence.
Abdominal aortic thrombosis (AAT) is a rare condition with substantial morbidity and mortality risk if not treated promptly. AAT typically occurs in postoperative patients, particularly those with certain risk factors. Here, we present the case of a urology patient who underwent ureteroscopy and laser lithotripsy for ureterolithiasis. During the postoperative period, the patient was re-admitted with a massive intra-abdominal arterial thrombosis involving the iliac and renal arteries and abdominal aorta. Emergency thrombectomy, angioplasty, and catheter-directed thrombolysis were performed in multiple stages. After a complex postoperative course in the intensive care unit, the patient survived and was discharged in stable condition.
Anifrolumab, an inhibitor of the type I interferon receptor, is increasingly used for moderate to severe systemic lupus erythematosus (SLE). Although clinical trials report a favorable safety profile, real-world data remain limited. A 32-year-old woman with long-standing SLE developed fever, mucocutaneous bleeding, confusion, and seizures approximately ten weeks after initiating anifrolumab. Laboratory evaluation demonstrated microangiopathic hemolytic anemia, severe thrombocytopenia, elevated lactate dehydrogenase, and markedly reduced ADAMTS13 activity (10%). Other causes of thrombotic microangiopathy were excluded. The patient received plasma exchange, corticosteroids, caplacizumab, and rituximab, resulting in full neurologic and hematologic recovery. The close temporal relationship between anifrolumab initiation and onset of immune-mediated thrombotic thrombocytopenic purpura raises a possible drug-related association, although causality cannot be established from a single case. Clinicians should remain vigilant for new cytopenia or neurologic symptoms in patients starting interferon-pathway-targeted biologic therapy. Further pharmacovigilance is required to determine whether this represents a coincidental occurrence or a signal of potential risk.
This case report presents initial and follow-up findings of a rare case of bilateral internal limiting membrane (ILM) detachment and sub-ILM hemorrhage in a 7-year-old child with Ewing sarcoma, associated with papilloedema due to a brain metastasis and the use of optical coherence tomography (OCT) in the evaluation and follow-up. The child was diagnosed with Ewing sarcoma and she was referred to the ophthalmology clinic because of blurry vision, anisocoria, and strabismus one week after the operation for brain metastasis. Fundus examination showed bilateral grade IV papilloedema, well-defined dome-shaped area extending towards the optic discs with inferiorly located hemorrhage. OCT revealed bilateral ILM detachment surrounded with a ring-shaped retinal elevation and inferiorly located sub-ILM hemorrhage. On the follow-up examinations OCT showed decrease of height of ILM detachment with resolution of sub-ILM hemorrhage. ILM detachment associated with papilloedema due to a brain metastasis is an exceedingly rare occurrence, making this case particularly significant in understanding ocular manifestations of intracranial pathology. OCT plays a crucial role in diagnosing and monitoring the progression of ILM detachment and associated sub-ILM hemorrhage, offering invaluable insights into the pathophysiology of raised intracranial pressure. Recognizing ocular signs such as papilloedema is critical for early detection of intracranial complications in pediatric patients.
Reverse Takotsubo syndrome (rTTS) is an acute cardiomyopathy characterized by prominent dysfunction in the basilar and mid-ventricular segments with apical hyperkinesis, often triggered by excessive stress hormone release. Sepsis can exacerbate this process. We present a unique case of a 27-year-old male with no chronic illnesses who developed sepsis-triggered rTTS resulting in cardiogenic shock. The initial presentation included nausea, vomiting, tachypnea, and fluctuating blood pressure. Laboratory findings revealed elevated cardiac and inflammatory markers, metabolic acidosis, and bacteremia caused by Staphylococcus aureus. Echocardiography showed an initial left ventricular ejection fraction (LVEF) of 45% with basal mid-ventricular hypokinesia and apical hyperkinesis, characteristic of rTTS. Coronary angiography excluded obstructive coronary artery disease. The patient developed cardiogenic shock (SCAI Stage D) requiring vasopressors and mechanical circulatory support with an Impella CP® device. Complications included acute kidney injury requiring renal replacement therapy and posterior reversible encephalopathy syndrome (PRES). With targeted antimicrobial therapy and supportive care, the patient's LVEF improved to 60-65%, and he made a significant clinical recovery. This case highlights the importance of recognizing sepsis as a trigger for rTTS and the potential for full recovery with prompt, aggressive management, including mechanical circulatory support.
Neuropsychiatric systemic lupus erythematosus (NPSLE) is a rare but severe manifestation of systemic lupus erythematosus in adolescents, with psychosis-predominant presentations occurring in approximately 5-12% of pediatric cases. Such manifestations may precede or obscure classic systemic features, often resulting in diagnostic delays and initial misattribution to primary psychiatric or infectious etiologies.We present the case of a previously healthy 19-year-old female who developed acute psychosis characterized by paranoia, auditory hallucinations, disorganization, and suicidal ideation over five days. Immunosuppressive therapy was initiated with pulse-dose methylprednisolone, followed by intravenous immunoglobulin and rituximab. Early consideration of autoimmune etiologies and a multidisciplinary approach, including rheumatology, psychiatry, neurology, and nutrition, are essential to optimize outcomes in this vulnerable population. The patient's limited psychiatric response despite immunologic improvement underscores the delicate balance between prompt immunosuppression and the neuropsychiatric risks associated with corticosteroid therapy. This case highlights the diagnostic challenges of psychosis-predominant NPSLE in adolescents complicated by nutritional and infectious factors, whilst emphasizing the importance of early recognition of autoimmune etiologies and multidisciplinary management for optimal outcomes.
Insulinoma is a rare functional neuroendocrine tumor of pancreatic islet cells that produces excessive insulin leading to neuroglycopenic and autonomic symptoms relieved by glucose. We report a case of a 39-year-old woman with recurrent neuroglycopenic symptoms for nearly five years, initially misdiagnosed as migraine, until she presented to ED with a collapse secondary to hypoglycemia. Biochemical confirmation was obtained during a supervised 72-hour fast, with symptomatic hypoglycemia which showed lowest glucose levels of 1.7mmol/L, elevated C-peptide levels of 2,271pmol/L, high insulin levels of 83.5 mU/L and a negative sulfonylurea screen. Imaging demonstrated a large hyper enhancing pancreatic mass, confirmed by 68Ga-DOTATATE PET as a solitary lesion without metastasis. Histopathology revealed a well-differentiated Grade 1 neuroendocrine tumor measuring 90×65×40 mm. Following surgical intervention, she demonstrated a successful recovery. This case emphasizes the need to consider insulinoma early in the differential diagnosis of recurrent neuroglycopenic episodes to prevent serious complications and avoid inappropriate treatments.
A 27-year-old female presented with a rapidly progressive demyelinating syndrome with anti aquaporin-4 (AQP4) antibodies, initially diagnosed as neuromyelitis optica spectrum disorder (NMOSD). A comprehensive evaluation, prompted by systemic symptoms including chronic polyarthralgia, bicytopenia, and a history of recurrent pregnancy loss, revealed a concurrent diagnosis of systemic lupus erythematosus (SLE), confirmed by positive antinuclear (ANA) and anti-double-stranded DNA (anti-dsDNA) antibodies. The co-occurrence of AQP4-positive NMOSD and SLE is a rare but well-documented clinical phenomenon that presents a unique diagnostic and therapeutic challenge. This also highlights the need for a thorough rheumatological assessment to identify underlying systemic autoimmune diseases in atypical neurological presentations with extra-neurological signs.
Extracorporeal membrane oxygenation (ECMO) has historically been avoided in oncological patients due to perceived risks. However, recent literature suggests improved survival rates for pediatric oncology patients. Additionally, necrotizing fasciitis from Clostridium septicum is associated with high morbidity and mortality, especially in patients with preexisting malignancies. Few studies have explored the outcomes of ECMO in patients with both necrotizing fasciitis and hematologic malignancies. We present a case of a 16-year-old male with pre-B cell acute lymphoblastic leukemia (ALL) and Clostridium septicum necrotizing fasciitis successfully supported with veno-arterial (VA) ECMO. The patient underwent induction chemotherapy for ALL but developed severe septic shock and necrotizing fasciitis. The patient was deemed an ECMO candidate based on the favorable prognosis of both ALL and necrotizing fasciitis. He underwent ECPR and was cannulated onto VA ECMO. Surgical interventions were performed while on ECMO, including debridement and abdominal wound management. Despite complications such as gastrointestinal bleeding, the patient was successfully decannulated from ECMO after eight days. He recovered well, with no recurrence of bleeding, resumed chemotherapy, and was discharged home on day 54. Follow-up appointments showed remission from ALL and good functional recovery. This case highlights the feasibility and success of ECMO support in an adolescent with both ALL and necrotizing fasciitis. Careful patient selection, multidisciplinary collaboration, and aggressive management of complications are crucial for favorable outcomes in such complex cases. ECMO candidacy should be considered on an individual basis, even in patients with high-risk surgical interventions.
