Reports — Clinical Practice and Surgical Cases

Background and Clinical Significance: Ectopic ACTH secretion is a rare, potentially life-threatening cause of Cushing’s syndrome that can be overlooked when small neuroendocrine tumors evade standard imaging. Case Presentation: A 34-year-old woman presented with rapidly progressing clinical signs/symptoms of Cushing’s syndrome and demonstrated marked hypercortisolism (cortisol 2428 nmol/L; ACTH 163 ng/mL; urinary free cortisol 815 μg/24 h; K+ 2.4 mmol/L). Small hypermetabolic nodules were noted in her right lung on ¹⁸F-FDG PET/CT but were initially deemed to be infectious; DOTANOC PET-CT and inferior petrosal sinus sampling were non-diagnostic. After medically induced inhibition of cortisol, repeat PET/CT showed a persistent 13 mm lung nodule. Biopsy confirmed a well-differentiated pulmonary carcinoid (Ki-67 3%), and lobectomy achieved biochemical remission. Conclusions: Diagnostic delay stemmed from human factors despite early suggestive imaging. Ectopic ACTH secretion should remain high on the differential diagnosis in rapidly evolving, severe ACTH-dependent Cushing’s disease; early, decisive diagnosis and coordinated care overseen by endocrinologists—preferably in expert centers—can shorten exposure to deleteriously high cortisol levels and improve outcomes. Full article

Background and Clinical Significance: Simultaneous, multiple infections coinfections caused by zoonotic or fecal-orally transmitted diseases are common in tropical and subtropical regions. Published data report that leptospirosis may coexist with other infections, complicating the clinical presentation and trajectory due to overlapping symptoms and leading to more severe clinical progress. Case Presentation: We describe a clinical case of a 34-year-old female diagnosed with a triple infection caused by Leptospira, Hepatitis A Virus, and Hepatitis E Virus. To our knowledge, this is the first case described in the literature in a non-endemic area without travel history to tropical or subtropical regions. The patient presented with one-week history of influenced clinical status, myalgia, headaches, nausea, high fever, bloody diarrheas, and abdominal pain. During the last two days, she also developed jaundice. Swimming in the rock pools of the island where she lives was indicated as the source of the infection. The laboratory tests revealed increased values of inflammatory markers, thrombocytopenia, and severe abnormalities of liver function. Serological and PCR tests for a wide range of pathogens proved an acute infection caused by Leptospira interogans, Hepatitis A virus, and Hepatitis E Virus. The patient received intravenous fluids and antibiotic treatment with ceftriaxone for seven days leading to gradual clinical improvement and normalization of liver function tests with subsequent reduction in jaundice within 30 days. Conclusions: This case report suggests that clinical suspicion and laboratory investigation should include the probability of coinfections even in non-endemic areas based on medical history of the patients. An early diagnosis of a zoonotic disease and other infective agents of acute hepatitis are vital in order to choose the appropriate treatment option and avoid severe complications. Full article

The widespread use of pharmaceutical agents highlights the importance of identifying potential pharmacological interactions with epinephrine, the most frequently used vasoconstrictor in dental practice. Dentists must be aware of possible risks in order to adjust anesthetic protocols, when necessary. The principal aim is to prevent complications and ensure patient safety. This review analyzes clinical data from the international literature on pharmacological interactions involving low-dose epinephrine, corresponding to the doses typically used in dental procedures. These interactions are subsequently classified according to their severity and documentation level, based on the criteria of the UpToDate Lexidrug platform. In addition, management strategies are proposed to guide dental practitioners in clinical decision-making. A literature search was conducted in PubMed, Scopus, Web of Science, and Cochrane Library databases, using specific keywords. In total, 24 studies met the inclusion criteria, with the earliest published in 1968 and the most recent in 2022. Nine pharmacological categories were identified and presented in tables. The dosage of epinephrine plays a key role in the likelihood of pharmacological interactions, which appear to be less frequent at low concentrations typically used in dentistry. However, patient-specific factors, such as overall health status, should also be carefully considered during clinical assessment. Full article

Background and Clinical Significance: Effective postoperative pain management is crucial in patients undergoing extensive thoracoabdominal surgery, such as esophageal reconstruction, where both thoracic and abdominal incisions are involved. In such cases, a single epidural catheter may not provide sufficient analgesic coverage. Dual epidural analgesia (DEA) offers a potential solution, allowing segmental, targeted pain control while minimizing systemic opioid exposure. Case Presentation: A 64-year-old male underwent esophageal reconstruction using a combined thoracoabdominal approach. Two epidural catheters were placed at Th5/6 and Th11/12 levels. Intraoperatively, segmental bupivacaine boluses and multimodal non-opioid intravenous analgesia were administered. Postoperatively, continuous epidural bupivacaine infusion was maintained, supplemented with morphine boluses when the numeric rating scale (NRS) was ≥5. Mean NRS scores were 2 at rest and 5 on movement on postoperative day 1 (POD1); 1 and 4 on POD2; and 3 and 5 on POD3. Total epidural morphine consumption was 36 mg over 340 h, and the 24-h bupivacaine dose was 180 mg (2.77 mg/kg/24 h). No complications were observed. Conclusions: Dual epidural analgesia provided effective, opioid-sparing multimodal pain control in complex thoracoabdominal surgery. This case highlights DEA as a safe and feasible approach when single-catheter coverage is inadequate, supporting enhanced recovery and reduced opioid use after esophageal reconstruction. Full article

Background and Clinical Significance: Preoperative planning is crucial for improving surgical safety and outcomes, particularly in minimally invasive surgery, where tactile feedback is absent. Three-dimensional (3D) printing offers patient-specific anatomical models that can enhance surgical planning. Its application in diverticular disease remains underexplored. Case Presentation: We present the case of a 65-year-old male with recurrent diverticulitis involving the sigmoid and descending colon. After conservative management of an acute episode, preoperative imaging revealed extensive diverticulosis. A patient-specific 3D-printed model was created from CT images to plan the surgical approach. The model helped determine the need for a left hemicolectomy rather than a simple sigmoidectomy, anticipated technical challenges such as lowering the left colic flexure and ligating the inferior mesenteric artery, and improved patient counseling. The surgery was performed laparoscopically without complications, and the patient was discharged on postoperative day six. Histology confirmed diverticulosis with perivisceritis and reactive lymphadenitis. Conclusions: This case demonstrates the potential of 3D printing to optimize surgical planning in diverticular disease, enabling tailored resections and improving operative strategy. Broader adoption may be limited by time and cost but offers clear educational and clinical benefits. Full article

Background and Clinical Significance: Adult small intestinal intussusception is rare and, in this population, is usually secondary to a pathological lead point, such as benign or malignant masses. The symptoms are non-specific, and patients frequently present with intermittent abdominal pain, diarrhea, nausea, vomiting, and, in rare cases, bleeding. There are currently no specific guidelines. Surgery remains the gold standard treatment. Case Presentation: We report the case of a 55-year-old female affected by Shone’s syndrome, presenting to the emergency department with melena, severe anemia, diffuse abdominal pain, weakness, and palpitations. Diagnostic tests showed active bleeding in the small intestine and a subocclusive condition. Urgent surgery was performed, revealing an intussusception. Conclusions: A multidisciplinary approach is essential for its management. Surgical resection is the only option in these cases, as it allows histological examination to rule out malignancy. Full article

Background and Clinical Significance: Immunoglobulin A nephropathy (IgAN) is the most common primary glomerulonephritis in adults, typically following a chronic course that often leads to end-stage kidney disease. Rapidly progressive glomerulonephritis is a rare and severe variant of IgAN with a poor prognosis. Case Presentation: We present the clinical case of a 68-year-old Caucasian female with a history of systemic lupus erythematosus and untreated chronic hepatitis B, who was admitted to the Transplant-Nephrology Department, University Hospital Martin, with acute kidney injury and nephrotic syndrome accompanied by hematuria. The clinical picture was marked by lower limb oedema and poorly controlled hypertension, both of which responded well to conservative management. Extrarenal causes were excluded through otolaryngologic, stomatologic, and gynecologic assessments, and autoantibody screening was negative. Renal biopsy revealed crescentic glomerulonephritis with endocapillary and mesangial proliferation and IgA deposits. Due to active hepatitis B, initial treatment was limited to corticosteroids. Following a decrease in viral load, pulse therapy with cyclophosphamide was administered, followed by mycophenolic acid; however, renal function did not recover. Conclusions: The rapidly progressive form of IgA nephropathy in the context of active hepatitis B presents a rare and challenging clinical case. Management requires a highly individualised, multidisciplinary approach due to the risk of infectious complications and the need to preserve renal function. Full article

Background and clinical significance: Lymphedema is a relatively common clinical manifestation in patients and has a broad differential diagnosis, the main concern being the exclusion of malignancy. However, a rare constellation of lymphedema with systemic features and no underlying malignancy is yellow nail syndrome (YNS). YNS is a lymphatic abnormality, characterized by a triad of yellow nails, primary lymphedema and respiratory manifestations. Case presentation: Here, we report a 74-year-old male patient who presented to us with massive chylous ascites, cough, yellow nails and recurrent bilateral leg edema. During the last 10 years, he had thrice undergone thoracocentesis, which revealed chylous pleural effusion, although there was no documented diagnosis of yellow nail syndrome. We pursued a thorough work-up to rule out underlying cirrhosis and malignancy (the main causes of chylous ascites). There are only few cases of yellow nail syndrome reported in the literature with chylous ascites as a manifestation of YNS. Conclusions: The co-existence of chylous ascites with the classical triad of pleural effusion, lymphedema and yellow nail changes in the same patient has to be included in the diagnostic process to differentiate this entity from liver cirrhosis and solid or hematological cancer. Full article

Background and Clinical Significance: Trichoblastomas and their variants are rare and underrecognized tumors, with their differential diagnosis being predominantly the much more common basal cell carcinoma. Variants of trichoblastoma, such as melanotrichoblastoma, and malignant counterparts, such as trichoblastic carcinoma and trichoblastic carcinosarcoma, are also rare and probably further underrecognized. Case Presentation: Herein, we present the morphological findings of a tumor located on the right arm of an 86-year-old female patient. The tumor presented with a mixed morphology comprising malignant epithelial nests and retiform structures with focal keratinization and comedo-type necrosis, admixed with dendritic melanocytes, and it had a strikingly bizarre and hypercellular stroma. Immunohistochemistry was positive for BerEp4 in the epithelial nest, HMB-45 was positive only in dendritic melanocytes admixed in some of the nests, and CK20 showed a focal dot-like reaction in intermixed Merkel cells. The stroma was negative for epithelial and melanocytic markers; however, it also exhibited hypercellularity and a bizarre appearance, in addition to a high Ki-67 proliferative index, which further defined it as malignant. Based on the morphology and immunohistochemical profile, the tumor was defined as melanotrichoblastic carcinosarcoma—a previously undescribed nosological unit with unique morphology. Conclusions: Melanotrichoblastomas, as well as trichoblastic carcinosarcomas, are exceedingly rare and underrecognized tumors due to their mimicry of other, more common malignancies. The currently presented case, to the best of the authors’ knowledge, is the first reported one of melanotrichoblastic carcinosarcoma. Full article

Background and Clinical Significance: Hell’s Itch is a rare, intensely uncomfortable post-sunburn condition with burning pruritus emerging 24–72 h after UV exposure. This condition often goes unrecognized and is frequently misdiagnosed by healthcare providers due to a lack of knowledge and familiarity. Standard antipruritic measures are often ineffective, and patients frequently rely on anecdotal self-management. Case Presentation: Three healthy adult males between 23 and 28 years old experienced multiple episodes of delayed-onset intense pruritus following moderate-to-severe sun exposure. The patients experienced a burning or stinging pain which they described as “fire ants” or “thumbtacks,“ and their symptoms started between 24 and 72 h after sun exposure without any rash or fever symptoms. The patients did not achieve symptom relief from standard treatments which included oral antihistamines and topical lidocaine, NSAIDs, aloe vera, and cold compresses. The patients received β-alanine treatment through pre-workout supplements or pure powder after consulting non-clinical sources. Each patient ingested β-alanine and reported rapid relief (itch 8–10/10 → 1–2/10) lasting 2–3 h. The only adverse effect reported by one patient was mild paresthesia. Conclusions: This case introduces β-alanine as a potential off-label therapy for Hell’s Itch and emphasizes the psychological burden and clinical complexity of the condition. While anecdotal, further study is needed to elucidate the mechanism of action of β-alanine in relieving symptoms of Hell’s Itch, as well as assess safety and efficacy in controlled settings. Increased clinical awareness of Hell’s Itch may reduce patient distress and improve management strategies. Full article

Background and Clinical Significance: Trousseau’s syndrome, characterized by recurrent thromboembolic events and non-bacterial thrombotic endocarditis, represents a severe paraneoplastic condition associated with poor prognosis in cancer patients. Due to the growing life expectancy of cancer patients, Trousseau’s syndrome is becoming more frequent. Consequently, risk of thrombosis and bleeding assessment, as well as early diagnosis and opportune therapy will gain importance. Case Presentation: We describe a case of a 63-year-old Caucasian male presenting with ischemic stroke. During management, he developed a mitral valve marantic endocarditis, and finally the diagnosis of pulmonary adenocarcinoma was performed. The case description is followed by a brief review of the relevant literature on the condition. Discussion and Conclusions: This case highlights the complexity of diagnosing and managing Trousseau’s syndrome. Early recognition, appropriate anticoagulation strategies, and the need for multidisciplinary management are crucial to improve the outcomes and the quality of life for cancer patients. Full article

Background and Clinical Significance: Adverse reactions to metal debris (ARMD) are a rare but increasingly recognized complication following total hip arthroplasty (THA), with some studies suggesting upwards of 5% of metal-on-metal (MoM) and 3% of metal-on-polyethylene (MoP) prostheses being attributed to this. Historically, metallosis due to MoM implant design was the primary cause of ARMD. However, ARMD can also arise in metal-on-polyethylene (MoP) prostheses due to trunnionosis, which involves wear and corrosion at the modular femoral head–neck interface. Clinically, ARMD can resemble periprosthetic joint infection (PJI), complicating both diagnosis and management. Case Presentation: We present the case of a 40-year-old female with a history of systemic degenerative joint disease with bilateral MoP THAs who developed progressive pain and swelling in the upper left thigh, in which the prosthesis was first put in 22 years prior. The patient presented initially in a vascular surgery department for an infected iliopsoas cyst communicating with the hip where she had received surgery 2 years prior. The symptomatology reoccurred, and imaging revealed a large mass near the prosthesis and elevated inflammatory markers. Intraoperatively, a large volume of sero-purulent fluid was encountered, prompting a diagnostic workup for PJI. All cultures returned negative, and histopathology revealed macrophage-dominant infiltration with metallic debris, consistent with ARMD. After infection was definitively excluded, a revision THA was performed with an exchange of all modular components. The patient recovered without complications, and at six months follow-up, she demonstrated stable implant positioning, restored function, and no recurrence of symptoms. Conclusions: This case highlights the diagnostic complexity of PJI in joint arthroplasty and reveals the importance of a protocol-driven approach to exclude it prior to surgical revision. As the incidence of trunnion-related failure becomes more recognized in the literature, clinicians must consider ARMD in the differential diagnosis of late THA complications. Appropriate diagnosis is essential for guiding treatment and avoiding unnecessary complications, morbidity, and treatment related side-effects. Full article

Background and clinical Significance: The management of head and neck squamous cell carcinoma in elderly patients is a clinical scenario that is currently under debate. Case Presentation: Patients over 65 years old are particularly vulnerable, and the administration of curative oncological care is challenging. Furthermore, such treatment has the potential to be extremely toxic. Spatially fractionated radiation therapy (SFRT) is a radiotherapy modality that offers a promising approach for treating tumors. This method involves the delivery of a spatially modulated dose, resulting in highly non-uniform dose distributions. This leads to the generation of peaks and valleys of doses within a target volume. In this case study, a patient with an ulcerating lesion on the right cheek was treated with a two-phase radiotherapy regimen. The purpose of the first procedure was to stimulate the immunogenicity of the tumor microenvironment. In the second part of the procedure, standard fractionated irradiation was delivered with curative aim. Conclusions: The clinical response indicates that this combination of high-dose “localized” and low-dose irradiation can produce immunological effects with an acceptable toxicity profile. Full article

Background and Clinical Significance: In a single phenotypically female patient, we describe the rare co-occurrence of partial androgen insensitivity syndrome (PAIS) and congenital adrenal hyperplasia (CAH). Partial androgen insensitivity syndrome (PAIS) is one of disorder of sex development (DSD) with a 46 XY karyotype. Congenital adrenal hyperplasia (CAH) is a genetic defect in adrenal steroidogenesis. Case presentation: We present the case of a 26-year-old female patient who was observed to have abnormally formed external genitourinary organs. She was diagnosed at the neonatal period. Tests performed showed a 46 XY karyotype, an absence of sex chromatin with a weakly positive DNA test for the SRY gene, an absence of uterine primordium with the presence of male gonads in the perineal skin folds, and a urethral outlet at the base of an undeveloped genital process. The daily urinary steroid excretion profile was normal. The patient was diagnosed with partial androgen insensitivity syndrome (PAIS). As a 4-year-old child, she underwent a bilateral gonadectomy due to possible further virilization and also the risk of testicular malignancy. Despite treatment, progressive androgenization was observed, the cause of which turned out to be congenital adrenal hyperplasia (CAH) in the course of P450 oxidoreductase (POR) disorder. Conclusions: In this article, we highlight the exceptional rarity of the co-occurrence of PAIS and CAH, underscoring the need for a multidisciplinary and individualized approach in the absence of clear guidelines regarding surgical timing and gender identity. Careful clinical evaluation and ongoing observation are essential for accurate diagnosis and optimal patient care. Full article

Background and Objectives: The anesthetic nerve block test is a surgical technique that can assist in the differential diagnosis of forefoot pain. The MTP joint, enclosed by its capsule, may act as a sealed cavity with predictable contrast dispersion, whereas the IM space, lacking clear boundaries and containing bursae and the plantar digital nerve, favors diffuse spread. Due to the high rate of false positives in suspected cases of Morton’s neuroma with the anesthetic block current procedure in the intermetatarsal space, the aim of this study was to propose an alternative to the current procedure. Material and Methods: Six fresh cadaveric feet were used. Under ultrasound guidance, the 2nd–4th MTP joints received stepwise intra-articular injections of radiopaque contrast. The third common digital nerve was injected within the third intermetatarsal space. Standard radiographs were obtained to assess distribution and proximal spread. Results: A volume of 0.3 mL was sufficient to fully reach the intra-articular cavity and potentially induce effective localized anesthesia. When the third common digital plantar nerve was injected in an anatomically healthy region, the contrast medium showed a proximal diffusion pattern extending up to the mid-diaphyseal level of the third and fourth metatarsal bones. On radiographs, the intra-articular infiltration lines appear sharply demarcated, supporting the interpretation of the metatarsophalangeal joint as a sealed compartment. Conclusions: Low intra-articular anesthetic volumes may yield targeted effects, while Morton’s neuroma injections spread proximally, risking loss of diagnostic specificity; this technique may improve decision-making accuracy and reduce failures. Full article

Background and clinical significance: Tranexamic acid (TXA) is commonly used for menorrhagia. Common side effects include diarrhoea, nausea, and vomiting. However, more serious and rare side effects, including embolism, thrombosis, and seizures, are less commonly considered. Case presentation: We report the case of a 39-year-old woman of Asian origin who presented after a first-time seizure while driving, following starting tranexamic acid for menorrhagia seven days prior. She complained of a headache, nausea, neck stiffness, floaters, and blurred vision. Her lactate was elevated on presentation. On examination there were no neurologic abnormalities. A computed tomography (CT) head scan showed acute haemorrhagic foci along the left temporal lobe. This prompted a CT venography, which showed filling defects in the left transverse and sigmoid sinuses, in keeping with cerebral venous sinus thrombosis. MRI of the head further showed a blooming artefact, indicating secondary thrombosis of the lateral tentorial sinus on the left side extending into the vein of Labbe. Following the diagnosis of cerebral venous sinus thrombosis, the patient was started on regular levetiracetam as well as a therapeutic dose of low molecular weight heparin. Since the initial episode, she has been seizure-free for over three months now. Conclusions: This case highlights the importance of considering less common side effects of tranexamic acid in patients who are taking TXA and are presenting with first-time seizures and headaches. These patients should be monitored for embolic-related intracranial events. A careful diagnostic approach, including cerebrovascular imaging, is essential for an accurate diagnosis and effective treatment. Full article

Background and Clinical Significance: Idiopathic pulmonary arterial hypertension is a rare disorder, often linked to genetic predisposition. Canonical pulmonary arterial hypertension genes such as BMPR2, KCNK3, and TBX4 are well described, but novel associations continue to emerge. Glomulin (GLMN) encodes a protein essential for vascular smooth-muscle biology, classically implicated in glomuvenous malformations, yet not previously associated with pulmonary arterial hypertension. Case Presentation: We present a 49-year-old woman with progressive dyspnea, edema, and persistent hypercapnic respiratory failure. Right-heart catheterization confirmed precapillary pulmonary hypertension. Comprehensive evaluation, including ventilation/perfusion scanning, autoimmune panel, polysomnography, and high-resolution computed tomography, excluded secondary causes. Respiratory assessment revealed diaphragmatic weakness and reduced respiratory muscle pressures, consistent with primary myopathy and explaining the unusual hypercapnic profile. Whole-genome sequencing identified a heterozygous pathogenic GLMN nonsense variant, while canonical pulmonary arterial hypertension genes were negative. No cutaneous or mucosal glomuvenous malformations were found. The patient was treated with oxygen therapy, diuretics, non-invasive ventilation, and dual oral pulmonary arterial hypertension therapy (ambrisentan and tadalafil), with stabilization but persistent hypercapnia. Conclusions: To our knowledge, this is the first reported co-occurrence of idiopathic pulmonary arterial hypertension and a pathogenic GLMN variant. While causality cannot be inferred, glomulin’s role in vascular smooth-muscle maturation provides a plausible link to pulmonary vascular remodeling. This case underscores the importance of assessing respiratory muscle function in idiopathic pulmonary arterial hypertension patients with hypercapnia and highlights the potential relevance of extended genetic testing in rare pulmonary vascular disease. Full article

Background and Clinical Significance: Corynebacterium striatum is an emerging multidrug-resistant pathogen increasingly implicated in infections among immunocompromised patients and patients with indwelling medical devices. Case Presentation: We report the probable first case of pseudomembranous inflammation associated with C. striatum infection in a 53-year-old male with an implanted left ventricular assist device (LVAD) awaiting heart transplantation. The patient experienced recurrent episodes of C. striatum bacteremia despite multiple courses of targeted antibiotic therapy, including vancomycin, linezolid, tedizolid, teicoplanin, and dalbavancin. During urgent heart transplantation, pseudomembranous tissue surrounding the LVAD driveline was observed, and cultures confirmed C. striatum device infection. Histopathological analysis revealed necrotic elements and Gram-positive organisms consistent with pseudomembranous inflammation. Conclusions: The case describes the diagnosis and treatment of this rare infection, highlighting the pathogenic potential of C. striatum, its role in device-related infections, and the histopathological evidence of pseudomembrane formation. Full article