BACKGROUND Vogt-Koyanagi-Harada (VKH) disease is a rare autoimmune disorder targeting melanocyte-rich tissues that often presents with bilateral ocular inflammation and multisystem involvement. Early manifestations, such as headache and optic disc edema, can mimic other conditions, leading to diagnostic delays. Clinician awareness is essential, particularly in high-risk populations, to ensure timely intervention. CASE REPORT We report the case of a 55-year-old Indian man who presented with a 20-day history of progressive bilateral visual loss, headache, and hearing impairment. Ophthalmologic examination revealed hand motion vision in both eyes, anterior chamber inflammation, disc edema, and serous retinal detachments. Spectral-domain optical coherence tomography confirmed neurosensory detachment and disc edema, whereas B-scan ultrasonography demonstrated pronounced choroidal thickening. Brain and orbital magnetic resonance imaging revealed bilateral focal nodular choroidal lesions. Laboratory investigations excluded infectious, malignant, and systemic inflammatory etiologies. A diagnosis of VKH disease was established based on the clinical presentation, multimodal imaging findings, and revised diagnostic criteria. The patient was treated with high-dose intravenous methylprednisolone followed by a prolonged oral taper; azathioprine was initiated early as a steroid-sparing agent to prevent relapse. CONCLUSIONS This case underscores the importance of prompt ophthalmologic evaluation and multimodal imaging in the diagnosis of VKH disease. Early initiation of intensive immunosuppressive therapy may help limit inflammatory progression and reduce long-term complications.
BACKGROUND Stasis dermatitis is a chronic inflammatory dermatosis secondary to chronic venous insufficiency. Treatment of refractory cases remains challenging. High-molecular-weight non-crosslinked hyaluronic acid (HMWNCHA) combined with succinic acid (SA) possesses anti-inflammatory and regenerative properties. We report 2 septuagenarian patients with refractory stasis dermatitis and psychosocial deterioration treated with intradermal HMWNCHA plus SA. CASE REPORT Case 1 involved a 77-year-old man with chronic venous insufficiency and refractory stasis dermatitis associated with severe symptoms, impaired mobility, and psychosocial deterioration. After failure of conventional therapies, he received 2 sessions of intradermal HMWNCHA plus SA administered 1 month apart, resulting in marked and sustained clinical and psychosocial improvement at 6-month follow-up. Case 2 involved a 75-year-old woman with refractory unilateral stasis dermatitis secondary to chronic venous insufficiency. Following the same treatment protocol, substantial improvement was observed after the first session, with near-complete lesion resolution after the second session and sustained remission at 6-month follow-up. No treatment-related adverse effects were reported. CONCLUSIONS In these 2 patients with refractory stasis dermatitis, intradermal HMWNCHA plus SA was associated with marked and sustained clinical improvements and enhanced quality of life. Further studies are warranted to confirm these findings.
BACKGROUND Cerebral venous thrombosis (CVT) is an uncommon form of stroke with highly variable clinical manifestations. Although headache and focal neurological deficits are typical presenting features, isolated psychiatric symptoms as an initial manifestation are exceptionally rare and may substantially delay diagnosis. CVT most commonly affects young adults and women with identifiable prothrombotic risk factors. CASE REPORT We report the case of a 37-year-old previously healthy woman with no identifiable thrombotic risk factors who presented with acute behavioral disturbances characterized by insomnia, agitation, emotional lability, and aggressive behavior. There was no history of prior psychiatric illness. Initial investigations, including brain magnetic resonance imaging (MRI), cerebrospinal fluid analysis, and infectious workup, were unremarkable, with no evidence of structural abnormalities on early neuroimaging. She was admitted with a working diagnosis of acute polymorphic psychotic disorder and started on psychiatric treatment. Six days later, she developed sudden loss of consciousness followed by generalized tonic-clonic seizures, prompting urgent neuroimaging. Imaging revealed a right high-parietal intracerebral hemorrhage, and subsequent venous imaging confirmed CVT involving the superficial superior cerebral vein. The patient was treated with antiepileptic therapy and anticoagulation, leading to gradual neurological and psychiatric improvement. CONCLUSIONS This case highlights an unusual presentation of CVT with isolated psychiatric manifestations, absence of classical risk factors, and initially normal neuroimaging findings, all of which contributed to delayed diagnosis. Abrupt neurological deterioration can occur despite non-specific early investigations. Early consideration of cerebral venous imaging may be warranted in atypical acute psychiatric presentations to avoid delayed diagnosis and potentially life-threatening complications.
BACKGROUND Aortic cross-clamping is usually required to clearly visualize the surgical field in mini-thoracotomy because cardiac surgery without aortic cross-clamping can be challenging. However, certain patients may require alternative strategies for cardiovascular surgeries. CASE REPORT We report the case of a 73-year-old woman with prior valve replacement who underwent left atrial thrombectomy under cardiopulmonary bypass without aortic cross-clamping using rapid ventricular overdrive pacing. She was referred to our hospital for an evaluation of elevated C-reactive protein levels. Computed tomography coronary angiography revealed a large non-mobile mass in the left atrium that did not decrease after anticoagulation therapy. A high degree of adhesion was observed around the aortic root, making median sternotomy and aortic cross-clamping hazardous. Thrombectomy during perfused ventricular fibrillation was an option but is associated with other potential complications such as coagulopathy, arrhythmia, hyperglycemia, and disordered electrolytes that could further increase the total risk. Therefore, rapid ventricular overdrive pacing was selected to achieve temporary circulatory arrest, combined with a mini-thoracotomy approach. Rapid ventricular overdrive pacing was successfully maintained throughout the thrombectomy, and the patient was easily weaned from cardiopulmonary bypass. She was extubated in the operating room at the end of the surgery. She recovered without complications and was discharged walking independently. CONCLUSIONS Rapid ventricular overdrive pacing to achieve temporary circulatory arrest during cardiovascular surgery may be a new therapeutic option in patients with high risks associated with reoperation.
BACKGROUND Cardiac tamponade caused by intrapericardial contrast extravasation is a rare but life-threatening iatrogenic complication associated with central venous access devices (CVADs) during power injection. CVADs, including implanted ports (port-a-caths), are susceptible to fibrin sheath formation and mural thrombosis over time, which can tether the catheter tip against the vessel wall and predispose it to erosion or perforation. When high-pressure contrast is injected through a compromised device, contrast may bypass the vessel lumen entirely and accumulate within the pericardial sac, producing acute obstructive shock. CASE REPORT We report a 61-year-old woman with a history of diabetes mellitus, cerebrovascular accident, and an indwelling port-a-cath who underwent computed tomography (CT) angiography because of difficult peripheral venous access. Immediately after contrast administration, she developed sudden cardiovascular collapse and cardiac arrest. CT imaging demonstrated a large hyperdense pericardial effusion with superior vena cava thrombosis adjacent to the catheter tip, suggesting catheter-related vessel wall injury and direct contrast extravasation into the pericardial sac. Bedside echocardiography confirmed tamponade physiology with right ventricular diastolic collapse and chamber compression. Emergent pericardiocentesis drained 1 L of contrast-containing serosanguinous fluid and resulted in immediate hemodynamic recovery after cardiac arrest. CONCLUSIONS Contrast extravasation through a long-term indwelling port-a-cath is a rare but catastrophic cause of acute cardiac tamponade. Sudden cardiovascular collapse during or after contrast-enhanced CT in a patient with a long-term central venous device should prompt immediate suspicion for this diagnosis. Additionally, echocardiography enables rapid confirmation, and emergent pericardiocentesis is life-saving.
BACKGROUND Takotsubo cardiomyopathy is a transient stress-induced cardiomyopathy that can mimic acute coronary syndrome (ACS) but typically occurs without obstructive coronary disease. Reverse takotsubo is an uncommon variant characterized by basal hypokinesis with preserved apical contraction. We report an atypical case in which acute respiratory failure, rather than an abrupt emotional stressor, appeared to be the primary trigger. CASE REPORT A 69-year-old woman with coronary artery disease status after prior left anterior descending artery stent, hypertension, hyperlipidemia, and chronic obstructive pulmonary disease (COPD) presented with severe respiratory distress and became unresponsive, requiring emergency intubation. She tested positive for coronavirus OC43 and was managed in the intensive care unit (ICU) for COPD exacerbation with ventilator-dependent respiratory failure. High-sensitivity troponin rose from 56 ng/L to 937 ng/L initially, later peaking at 1928 ng/L after catheterization with ST-T changes on EKG, prompting cardiac evaluation. Transthoracic echocardiography revealed new segmental wall motion abnormalities consistent with stress cardiomyopathy and an estimated ejection fraction of 40%. Urgent coronary angiography demonstrated no obstructive coronary disease with a patent LAD stent; left ventriculography showed severe basal hypokinesis with preserved apical contraction, confirming reverse takotsubo. Further history-taking revealed ongoing grief after her sister's death 3 months earlier. CONCLUSIONS Reverse takotsubo should be considered in patients with ACS-like presentations during acute critical illness, including respiratory failure, even when emotional stressors are chronic rather than sudden. Recognizing basal hypokinesis with preserved apical function can help avoid misdiagnosis and guide appropriate supportive management and follow-up imaging.
BACKGROUND Endo-periodontal lesions (EPL), particularly those manifesting as primary periodontal lesions with secondary endodontic involvement, pose unique clinical challenges when accompanied by odontogenic maxillary sinusitis (OMS). Furthermore, limited case reports document the nonsurgical management of such complex conditions in maxillary molars exhibiting rare multi-rooted and multi-canal variations (prevalence <0.103%). CASE REPORT A 31-year-old woman presented with pain and grade III mobility in the right maxillary first molar, with an intact crown, a deep palatal periodontal pocket, and a negative cold testing response on clinical examination. Periapical radiography indicated multi-rooted anatomy and extensive bone loss, and cone beam computed tomography (CBCT) confirmed 4 separate roots (mesiobuccal, distobuccal, mesiopalatal, distopalatal), a fifth centrally located pulp chamber canal orifice, a periapical lesion communicating with a periodontal defect, and ipsilateral maxillary sinus mucosal thickening. Nonsurgical root canal treatment for all 5 canals was performed under a dental operating microscope with ultrasonic activation (3% NaOCl) and bioceramic sealer, combined with concurrent supportive periodontal therapy. At the 8-month follow-up, the tooth was asymptomatic with reduced mobility and probing depths; CBCT revealed marked reduction in periapical lesions and significant improvement in maxillary sinus mucosal thickening (ENT consultation advised). CONCLUSIONS This case unequivocally demonstrates that meticulous nonsurgical endodontic treatment with ultrasonic activation and bioceramic sealer, in conjunction with targeted periodontal therapy and occlusal management, is a highly effective tooth-preserving strategy for maxillary molars with complex anatomic variations complicated by primary periodontal lesions with secondary endodontic involvement and secondary OMS, achieving excellent clinical and radiological outcomes.
BACKGROUND The coexistence of multiple oncogenic drivers in non-small cell lung cancer (NSCLC) is a rare and diagnostically challenging molecular configuration. Conventional polymerase chain reaction (PCR)-based testing may fail to detect co-occurring genomic alterations, potentially limiting therapeutic options, particularly in resource-constrained settings. CASE REPORT We describe the case of a 54-year-old non-smoking woman diagnosed with Stage IIIA lung adenocarcinoma in 2020. Initial PCR-based molecular testing was negative for EGFR mutations. Following disease progression with brain metastases and severe chemotherapy toxicity, stepwise molecular profiling in a resource-limited setting identified HER2 (ERBB2) amplification via fluorescence in situ hybridization (FISH). The patient achieved 23 months of clinical and radiological stabilization on trastuzumab. Subsequent next-generation sequencing (NGS) analysis of archived tissue revealed a previously undetected estimated glomular filtration rate (EGFR) L858R mutation. In late April 2025, new lesions appeared in the lungs, indicating disease progression. Based on the previously verified EGFR L858R mutation, the treatment strategy was revised and gefitinib was initiated in May 2025. CONCLUSIONS This case illustrates that co-occurring EGFR and HER2 alterations can remain undetected following initial limited molecular testing, and that stepwise molecular profiling in a resource-constrained setting can facilitate identification of therapeutically actionable targets. The sequential clinical responses observed are consistent with the biological relevance of both alterations, although broader conclusions regarding diagnostic strategy or driver hierarchy cannot be drawn from a single observation.
BACKGROUND The therapeutic margin of colchicine is narrow, and toxicity occurs easily. No standard treatment exists because its toxicokinetics are poorly understood. Symptoms are usually gastrointestinal, and dehydration occurs easily. Few reports have monitored serum and urinary colchicine levels. CASE REPORT A man in his 20s presented with nausea, vomiting, diarrhea, drowsiness, and dyspnea. He ingested 2 dried Colchicum autumnale bulbs (estimated colchicine: 6.24-15.6 mg) with an energy drink. Activated charcoal with laxative was administered at 27 hours post ingestion (h-PI), followed by multiple-dose activated charcoal (MDAC) every 6 hours (13 doses, 27-101 h-PI), high-volume fluid infusion (Ringer's acetate), and blood purification (hemodialysis [HD] at 48-52 h-PI; hemodiafiltration [HDF] at 71-75 and 98-102 h-PI). Serum colchicine was measured at 16 time points and urine at 11 time points. Serum colchicine at 27 h-PI was 50.3 ng/mL, and was temporally associated with a rapid decrease to 21.2 ng/mL at 35 h-PI, coinciding with initiation of infusion and activated charcoal. A secondary rise to 17.74 ng/mL occurred at 77 h-PI, approximately 2.4 hours after HDF1 completion. Urine colchicine was 110.0 ng/mL at 29 h-PI, then gradually decreased. Serum colchicine changed modestly (12.16 to 5.46 ng/mL) during HD. CONCLUSIONS In this case of severe colchicine poisoning, serial serum and urine concentration monitoring provided a time-resolved profile across concurrent interventions. The observed temporal associations support hypothesis generation regarding the potential roles of renal elimination and MDAC-mediated interruption of enterohepatic recirculation in colchicine clearance, while recognizing that concurrent therapies preclude attribution of effects to any single intervention.
BACKGROUND Anterior cutaneous nerve entrapment syndrome is an underrecognized cause of abdominal wall pain and may be overlooked, particularly in patients with advanced cancer, in whom abdominal pain is often attributed to malignancy-related causes. Failure to identify coexisting non-cancer-related pain mechanisms can result in inadequate pain control and functional decline. CASE REPORT A 51-year-old woman with advanced sigmoid colon cancer and peritoneal metastasis presented with severe movement-related abdominal pain that was refractory to high-dose opioid therapy. Although tumor lesions were present near the umbilicus, she reported minimal pain at rest, with marked exacerbation during sitting and ambulation. Physical examination revealed multiple localized tender points along the lateral borders of the rectus abdominis muscle and a positive Carnett's sign, suggesting abdominal wall pain. Based on these findings, anterior cutaneous nerve entrapment syndrome was suspected. Ultrasound-guided bilateral rectus sheath blocks were performed at the tender points, resulting in immediate pain relief. Although the initial analgesic effect was transient, repeated blocks led to sustained pain reduction beyond the expected duration of local anesthetic action, enabling recovery of mobility and activities of daily living. CONCLUSIONS This case shows that anterior cutaneous nerve entrapment syndrome can coexist with cancer-related pathology and is a treatable cause of refractory abdominal pain in patients with advanced cancer. Careful assessment of pain characteristics and physical examination, even in the presence of tumor lesions at the pain site, can facilitate recognition and treatment of non-cancer-related pain and improve functional outcomes and quality of life in palliative care settings.
BACKGROUND Septic abortion is a serious, life-threatening uterine infection that can occur before, during, or after a miscarriage or termination, and when it is associated with an intrauterine fetal death (IUFD), the retained fetal tissue can be a focus for bacterial infection. This report describes the case of a 34-year-old woman with septic abortion associated with IUFD at 8 weeks of gestation, complicated by myometritis and bilateral psoas muscle abscess. CASE REPORT A 34-year-old female patient presented with severe lower back pain radiating to the right lower extremity. Diagnostic workup initially ruled out neurological lesions but identified an impending septic spontaneous abortion due to IUFD at 8.7 weeks. Following cervical ripening with misoprostol and subsequent uterine curettage, she developed persistent fever and methicillin-resistant Staphylococcus aureus bacteremia. Abdominal and pelvic computed tomography (CT) documented fluid collections involving both iliopsoas muscles bilaterally at their distal insertion, alongside smaller collections in the right external obturator and thigh musculature. No surgical drainage was required due to the limited size of the abscesses. Targeted treatment consisting of a 28-day course of intravenous vancomycin resulted in full clinical and radiographic resolution. CONCLUSIONS Iliopsoas abscess is a complex clinical entity whose diagnosis can be challenging, even more in a pregnancy context. Very few cases of psoas abscess during pregnancy have been reported in the literature, and even fewer have been bilateral. Timely diagnosis and broad-spectrum antibiotic coverage are the cornerstones of treatment.
BACKGROUND Radiation therapy is critical for treating many solid tumors but increases the risk of secondary malignancies due to DNA damage. Radiation-associated sarcomas (RAS) occur in 0.03% to 0.8% of irradiated patients, typically 5 to 20 years after treatment. Undifferentiated pleomorphic sarcoma (UPS) is a common RAS subtype with poor 5-year survival (12%-14%). Risk rises with doses ≥50 Gy and is especially concerning in previously irradiated head and neck regions, where surgery is challenging. Germline mutations in DNA repair genes (eg, ATM) further increase susceptibility. CASE REPORT A 54-year-old man treated in 2003 for multifocal medullary thyroid carcinoma (thyroidectomy, bilateral neck dissection, adjuvant 59.4 Gy radiation) presented 22 years later with a painless neck mass. Imaging showed a 1.9-cm enhancing lesion within the prior radiation field. Excision revealed a 4-cm, FNCLCC grade 3 intramuscular UPS meeting the modified Cahan criteria for RAS. Immunohistochemistry excluded recurrent thyroid carcinoma. Margins were positive, but re-excision and re-irradiation were not feasible. The sarcoma tumor board recommended close surveillance and germline testing. This case involved high-grade UPS arising 2 decades after neck irradiation. Compared with sporadic UPS, RAS-associated UPS has worse disease-specific survival (~52% vs 76%) and higher local recurrence (~55% vs 24%), emphasizing the importance and difficulty of achieving negative margins in previously irradiated fields. CONCLUSIONS As cancer survival improves, lifelong vigilance for RAS remains essential. New masses in irradiated areas require prompt evaluation. Multidisciplinary management and consideration of genetic testing are critical, as treatment options are often limited by prior therapy.
BACKGROUND Renal angiomyolipoma (AML) is a typically benign mesenchymal tumor with an indolent clinical course. Rarely, AML demonstrate aggressive vascular invasion, most commonly in association with tuberous sclerosis complex (TSC). Intracardiac extension, particularly into the right ventricle, is exceptionally uncommon in sporadic cases and presents significant diagnostic and surgical challenges. CASE REPORT A 36-year-old woman with a history of rheumatoid arthritis presented with progressive left upper-quadrant abdominal pain, nausea, and back discomfort. Cross-sectional imaging revealed a massive left renal angiomyolipoma measuring 19.5×18.0×10.5 cm, with a contiguous tumor thrombus extending from the left renal vein through the inferior vena cava into the right atrium, intermittently prolapsing across the tricuspid valve into the right ventricle. Echocardiography confirmed a mobile intracardiac mass without evidence of valvular obstruction. Genetic testing was negative for TSC1 and TSC2 mutations, consistent with a sporadic angiomyolipoma. The patient underwent successful en bloc left radical nephrectomy with complete venous thrombectomy and inferior vena cava reconstruction through a coordinated multidisciplinary approach. Final pathology confirmed complete excision with negative margins and absence of epithelioid features. CONCLUSIONS This case was an exceptionally rare presentation of sporadic renal angiomyolipoma with extensive intracardiac extension into the right ventricle. It demonstrates that significant vascular and cardiac involvement can occur even in the absence of TSC-associated genetic mutations or epithelioid histology, thereby challenging traditional assumptions regarding AML behavior. These findings underscore the importance of early recognition, comprehensive imaging, and individualized operative planning in the management of complex AML presentations. Given the potential for aggressive progression in otherwise benign tumors, close long-term radiographic surveillance remains essential.
BACKGROUND Coronary-subclavian steal syndrome (CSSS) is a rare but clinically significant cause of myocardial ischemia in patients with prior coronary artery bypass grafting (CABG), particularly when the left internal mammary artery (LIMA) is used as a conduit. Proximal subclavian artery stenosis can lead to reversal of LIMA graft flow, resulting in compromised myocardial perfusion that can mimic progression of native coronary disease. CASE REPORT A 63-year-old man with a history of multi-vessel coronary artery disease, prior PCI, and CABG with a LIMA-to-LAD graft presented with progressive exertional chest pain and left upper-extremity paresthesia. Physical examination revealed a diminished left radial pulse and inability to obtain blood pressure in the affected arm, raising suspicion for a proximal inflow lesion. CTA subsequently identified high-grade stenosis of the proximal left subclavian artery, and coronary angiography confirmed underfilling of the LIMA-LAD graft consistent with CSSS physiology. After evaluating medical therapy, redo surgical revascularization, and endovascular intervention, percutaneous stent placement was selected due to its lower procedural morbidity and favorable reported outcomes. A balloon-expandable stent was successfully deployed, restoring antegrade flow with immediate improvement in graft perfusion. CONCLUSIONS This case emphasizes the importance of recognizing coronary-subclavian steal syndrome in post-CABG patients presenting with recurrent angina and upper-extremity vascular findings. Targeted vascular imaging and bedside examination facilitated the diagnosis, and endovascular subclavian revascularization proved safe and effective in restoring graft perfusion. A practical diagnostic flowchart is also presented to support clinical evaluation and management in similar cases.
BACKGROUND Left ventricular summit ventricular tachycardia (LVSVT) originates in the epicardium of the superior left ventricular wall, between the origins of the main coronary arteries, with characteristic findings on 12-lead electrocardiogram (ECG) that can guide ablation. This report describes a 66-year-old man with dizziness and palpitations diagnosed with LVSVT using ECG and managed with radiofrequency ablation. CASE REPORT A 66-year-old man presented with 24 hours of dizziness and palpitations. He was hemodynamically stable, and the initial ECG showed frequent premature ventricular complexes with left bundle branch block-like morphology, inferior axis, and early precordial transition. Continuous monitoring and 24-hour Holter recording documented a high ventricular ectopic burden (~65%), with episodes of sustained and nonsustained monomorphic ventricular tachycardia of identical morphology. Echocardiography showed preserved left ventricular systolic function, and coronary angiography and cardiac magnetic resonance imaging excluded obstructive coronary disease, myocardial fibrosis, and scar. Because symptoms and arrhythmia burden persisted, an electrophysiological study was performed on day 4. Isoproterenol infusion induced ventricular tachycardia, activation mapping localized the earliest ventricular activation to the left ventricular summit, and radiofrequency ablation was performed from the great cardiac vein and adjacent left ventricular outflow tract and left coronary cusp sites after coronary angiography confirmed a safe distance from the coronary arteries. Ventricular ectopy was immediately suppressed, and no arrhythmia was inducible after ablation. At 30-day follow-up, the patient remained asymptomatic without recurrent ventricular arrhythmia on Holter monitoring. CONCLUSIONS Systematic ECG interpretation can localize LVSVT and guide effective catheter ablation.
BACKGROUND Severe Pneumocystis jirovecii pneumonia (PJP) in renal transplant recipients (RTRs) can rapidly progress to acute respiratory distress syndrome (ARDS) and is associated with high mortality. Glucocorticoids (GCs) play a paradoxical role, constituting a risk factor for infection and a trigger for immune reconstitution inflammatory syndrome upon withdrawal; they may also serve as a therapeutic agent for lung injury. We evaluated the efficacy of a standardized triple-therapy regimen designed to address this paradox. CASE REPORT We analyzed 7 RTRs admitted to the intensive care unit (ICU) with severe PJP-ARDS between June 2023 and September 2024. The cohort had a median age of 49 years; all patients had prior chronic low-dose GC maintenance therapy without PJP prophylaxis. All diagnoses were confirmed by metagenomic next-generation sequencing. After the onset of severe PJP-ARDS, all immunosuppressive agents were discontinued; patients were treated with trimethoprim-sulfamethoxazole and caspofungin. Early adjunctive intravenous methylprednisolone was administered to all patients, including 4 who received treatment upon ICU admission. The median starting dose was 80 mg/day (range, 40-120 mg/day), with a median treatment duration of 11 days (range, 5-17 days) and median cumulative dose of 580 mg (range, 200-840 mg). Following this triple-therapy regimen, the median duration of mechanical ventilation was 14 days, and the survival rate was 100% (7/7); no severe secondary infections or uncontrolled hyperglycemia occurred. CONCLUSIONS Despite constituting a predisposing factor for PJP, early adjunctive GC administration-combined with robust anti-Pneumocystis therapy-may be a safe and promising strategy for managing severe PJP-ARDS in RTRs.
BACKGROUND Rabson-Mendenhall syndrome (RMS) is an extremely rare autosomal recessive disorder caused by pathogenic variants in the insulin receptor gene, leading to severe insulin resistance and compensatory hyperinsulinemia. Classical features include acanthosis nigricans, non-obese or underweight body habitus, hirsutism, dental abnormalities, dysmorphic features, and variable growth abnormalities. Early recognition may be difficult when the initial presentation is dominated by non-specific symptoms rather than classical metabolic complaints. CASE REPORT A 10-year-old Saudi girl presented to a family medicine clinic with intermittent bilateral leg pain and excessive hunger, without polyuria or polydipsia. Examination revealed extensive acanthosis nigricans, moderate hirsutism, deep voice, high-arched palate, and dental enamel defects. Laboratory evaluation showed severe hyperinsulinemia with insulin level of 3522.5 µU/mL, elevated HbA1c of 8.4% (68 mmol/mol), and biochemical hyperandrogenism. Although RMS is classically associated with growth restriction, the patient was tall for age and had a family history of tall stature, requiring cautious interpretation of growth-related findings. Whole-exome sequencing confirmed a homozygous pathogenic insulin receptor variant (c.433C>T, p.Arg145Cys), establishing the diagnosis of RMS. Treatment included vitamin D supplementation, metformin, basal-bolus insulin therapy, dapagliflozin, home glucose monitoring, diabetes education, dietary counseling, and multidisciplinary follow-up. Glycemic control remained suboptimal despite treatment intensification, reflecting the severe receptor-level insulin resistance associated with RMS. CONCLUSIONS In this patient, marked acanthosis nigricans, severe hyperinsulinemia, hyperglycemia, and hyperandrogenic features supported evaluation for a genetic insulin resistance syndrome despite the absence of classical diabetic symptoms.
BACKGROUND Obscure gastrointestinal bleeding (OGIB) denotes recurrent hemorrhage after nondiagnostic bidirectional endoscopy. In overt presentations with suspected small-bowel origin, capsule endoscopy, deep enteroscopy, and multiphase computed tomographic enterography (CTE) can improve lesion detection and operative planning. However, subcentimeter small-intestinal neuroendocrine tumors (siNETs) may remain undetected unless cross-sectional imaging enables targeted exploration. CASE REPORT A 72-year-old man presented with 2 days of melena and vague abdominal discomfort in the absence of hematemesis, hematochezia, weight loss, focal pain, or carcinoid features. Esophagogastroduodenoscopy and colonoscopy were nondiagnostic. Multiphase CTE localized an 11×8 mm enhancing mural nodule in the distal small bowel. Diagnostic laparoscopy with conversion to a limited laparotomy and intraoperative enteroscopy enabled precise localization, segmental ileal resection with mesentery, primary anastomosis, and appendectomy. Pathology findings comprised a grade 1 siNET measuring 0.8×0.6 cm with subserosal invasion, negative margins, and metastasis in 1 of 2 lymph nodes (pT3 pN1, Ki-67 index 2%). The postoperative surgical course was uncomplicated; however, profound bradycardia with syncope unmasked sinus node dysfunction, requiring dual-chamber pacemaker implantation, after which the patient remained clinically stable. CONCLUSIONS In older patients with overt OGIB and negative bidirectional endoscopy, early multiphase CTE can identify a small hypervascular ileal lesion, guiding targeted intraoperative enteroscopy and oncologic resection. Because nodal metastasis may occur despite a subcentimeter primary tumor, resection should include appropriate mesenteric lymphadenectomy. Vigilant perioperative cardiac rhythm monitoring is warranted because clinically significant bradyarrhythmias may require permanent pacemaker implantation.
BACKGROUND Stevens-Johnson syndrome (SJS) is characterized by widespread, epidermal necrosis and mucosal involvement mediated by a delayed-type hypersensitivity reaction. Although rapidly progressive epidermal detachment is known to result in blister formation, pustular lesions are rare in SJS. CASE REPORT A 25-year-old male patient with no significant medical history or regular medication presented to the emergency department with a fever and rash. The fever had developed 7 days before the current presentation and was followed 4 days later by lip swelling, conjunctival hyperemia, and sore throat, which caused difficulty with oral intake. Two days before presentation, a generalized rash and dysuria developed, prompting evaluation at our hospital. A clinical examination found multiple, 3-mm pustules surrounding erythema on the face, chest, and back. Scattered erosions were observed on less than 10% of body surface, including the distal extremities, lips, buccal mucosa, and genital area. The conjunctivae displayed marked pseudomembrane formation. Histopathological analysis found that the erosions contained necrotic keratinocytes in the epidermis, with mild vacuolar changes at the dermo-epidermal junction, while the pustules contained serous exudate with scattered neutrophils. Based on these findings, SJS was diagnosed. A drug-induced lymphocyte stimulation test was positive for loxoprofen. The patient responded well to prednisolone therapy. CONCLUSIONS Although no drug exposure or infection preceding the symptoms was identified at admission, SJS was diagnosed by exclusion on the basis of the clinical manifestations and diagnostic criteria. A drug-induced lymphocyte stimulation test may help identify the causative drug. Neutrophilic infiltration into blisters formed by progressive, epidermal necrosis may occasionally result in pustule-like eruptions in SJS.
BACKGROUND Histoplasma capsulatum is a thermally dimorphic fungus capable of causing progressive disseminated histoplasmosis, particularly in immunocompromised hosts. Hemophagocytic lymphohistiocytosis (HLH) is a rare, life-threatening hyperinflammatory syndrome resulting from uncontrolled immune activation. The coexistence of HLH and disseminated histoplasmosis is uncommon and poses significant diagnostic and therapeutic challenges. CASE REPORT A 72-year-old immunosuppressed woman with rheumatoid arthritis treated with methotrexate, hydroxychloroquine, and adalimumab presented with a 2-month history of intermittent high-grade fevers, weight loss, fatigue, and left upper quadrant pain. Physical examination revealed pallor, lethargy, and splenomegaly. Laboratory evaluation showed pancytopenia, markedly elevated ferritin, hypertriglyceridemia, and hypofibrinogenemia. Imaging demonstrated splenomegaly with splenic masses, hepatic lesions, and pulmonary nodules. Disseminated histoplasmosis was confirmed by positive urine Histoplasma antigen testing, immunodiffusion assays (H and M bands), and tissue biopsy demonstrating intracellular yeast forms consistent with Histoplasma. Bone marrow biopsy revealed hypercellularity with histiocytosis and hemophagocytosis. Elevated soluble interleukin-2 receptor levels and decreased natural killer cell activity supported secondary HLH. The patient was treated with liposomal amphotericin B followed by oral itraconazole, resulting in rapid clinical improvement and normalization of inflammatory markers, with radiographic resolution at 12 months. This case is notable for HLH associated with disseminated histoplasmosis presenting with splenic masses, an uncommon finding that can mimic malignancy or other infectious etiologies. CONCLUSIONS This case underscores the importance of considering HLH in patients with disseminated histoplasmosis presenting with persistent fever, cytopenias, and organomegaly. Early recognition and prompt antifungal therapy are critical for favorable outcomes. Although histoplasmosis can occur in immunocompetent individuals, it more commonly affects immunocompromised hosts, as in this patient, highlighting the need for vigilance in high-risk populations.
