Reports — Clinical Practice and Surgical Cases

Background and Clinical Significance: In hepatocellular carcinoma (HCC), numerous signaling pathways become aberrantly regulated, resulting in sustained cellular proliferation and enhanced metastatic potential. Tumors that lack PYGO2 may not show the same types of tissue remodeling or regenerative features driven by the Wnt/β-catenin pathway, which could make the tumor behave differently from others that are Wnt-positive. PIK3CA-positive tumors are often associated with worse prognosis due to the aggressive nature of the PI3K/AKT pathway activation. This is linked to higher chances of metastasis, recurrence, and resistance to therapies that do not target this pathway. Case presentation: In this paper we present a rare case of hepatocellular carcinoma with PIK3CA-positive and PYGO2-negative signaling pathways, several key aspects of the tumor’s behavior, prognosis, and treatment options. Although alpha-fetoprotein (AFP) levels were significantly elevated, the CT and MRI examination showed characteristics of malignancy, HCC with secondary hepatic lesions and associated perfusion disturbances. The case particularities and immunohistochemistry features are highlighted in the context of literature review, the PIK3CA mutation suggesting the activation of the PI3K/AKT/mTOR pathway, a critical signaling pathway involved in cell survival, proliferation, and metabolism. Conclusions: Due to the aggressive nature of PIK3CA mutations, close monitoring and consideration of immunotherapy and targeted treatments are of crucial importance. Full article

Background and Clinical Significance: Palatal swellings may originate from various pathological disorders. These swellings may include congenital or acquired factors. The posterior hard palate, which contains many minor salivary glands, is a common site for such swellings. Case Presentation: We present a rare case of intraoral palatal myoepithelioma in a 45-year-old Egyptian male with a significant history of smoking. Detailed clinical, radiographic, and operative findings are discussed alongside histopathological evaluation, surgical management, and postoperative outcomes. This case highlights the importance of considering myoepithelioma lesions in the differential diagnosis of posterior palatal swelling. Conclusions: Palatal myoepithelioma is a rare but important benign salivary gland tumor that may resemble multiple other intraoral lesions. A complete clinical, radiographic, and histological investigation is required for a definitive diagnosis. Complete surgical excision achieved a favorable outcome. Increased awareness and reporting of this unusual pathology are critical for deepening knowledge and guiding clinical decisions. Full article

Background and Clinical Significance: Adenoid cystic carcinoma (ACC) is a rare neoplasm of salivary glands, accounting for approximately 2–4% of all ACCs of head and neck malignancies. Adenoid cystic carcinoma (ACC) of the larynx is exceedingly rare, accounting for only 0.07–0.25% of all laryngeal tumors. Within the larynx, ACC may arise in various locations; however, the subglottic region is most commonly affected, representing approximately 64% of cases. ACC typically manifests as a slow-growing tumor with a pronounced tendency for perineural invasion and local recurrence. Current treatment strategies primarily involve surgical resection followed by adjuvant radiotherapy. Chemotherapy demonstrates limited efficacy and is generally reserved for advanced, recurrent, or metastatic disease. Given the rarity of this malignancy and the limited number of cases reported in the literature, we aim to contribute to the existing body of knowledge by presenting a clinical case of laryngeal ACC. Case Presentation: A 77-year-old male with a significant smoking history (more than 20 cigarettes per day for over 40 years) presented to our department in October 2023 with persistent dysphonia lasting several months. Endoscopic evaluation of the upper aerodigestive tract revealed an extensive neoplastic lesion involving the larynx. Contrast-enhanced computed tomography (CT) confirmed the presence and extent of the lesion. The patient subsequently underwent surgical resection and was referred for adjuvant postoperative radiotherapy. Unfortunately, the patient died of a myocardial infarction a few days before radiotherapy could be initiated. Conclusions: Due to the rarity of laryngeal adenoid cystic carcinoma, further studies are necessary to define optimal management strategies. Sharing clinical experiences and outcomes is essential, as there is currently no universally accepted treatment consensus for this uncommon malignancy. At the same time, our aim is to highlight the importance of histological subtype and perineural invasion which have to be considered as important prognostic factors when dealing with ACC. Full article

Background and Clinical Significance: Granulomatous reactions are rare but clinically significant complications of aesthetic procedures involving dermal fillers, particularly in individuals with underlying immune dysregulation. These reactions present diagnostic and therapeutic challenges, especially when associated with undiagnosed or latent autoimmune diseases. This case illustrates the interaction between filler composition, immune status, and the risk of delayed inflammatory responses, underscoring the need for thorough patient evaluation and individualized management strategies. Case Presentation: A 49-year-old woman developed delayed-onset subcutaneous nodules following midface augmentation with two filler types: a monophasic, cross-linked hyaluronic acid gel (concentration 20 mg/mL, 1.0 mL per side) injected into the deep malar fat pads, and a calcium hydroxyapatite suspension (30% CaHA microspheres in a carboxymethylcellulose carrier, 0.5 mL per side) placed in the subdermal plane along the zygomatic arch. The procedure was performed in a single session using a 22 G blunt cannula, with no immediate adverse events. High-resolution ultrasound demonstrated hypoechoic inflammatory nodules without systemic symptoms. A retrospective review of her medical history revealed a latent, previously undisclosed diagnosis of granulomatosis with polyangiitis (GPA). The immune-adjuvant properties of calcium hydroxyapatite likely triggered a localized pro-inflammatory response in this predisposed patient. A conservative, staged, non-invasive therapeutic protocol—saline infiltration, intradermal polynucleotide injections, and manual lymphatic drainage—achieved complete clinical and radiological resolution without systemic immunosuppression or surgical intervention. Conclusions: This case highlights the critical importance of pre-procedural immunological assessment in aesthetic medicine. Subclinical autoimmune conditions may predispose patients to delayed granulomatous reactions after filler injections. An individualized, conservative management strategy can effectively resolve such complications while minimizing the risks associated with aggressive treatment. Greater awareness of immune-mediated responses to dermal fillers is essential to ensure patient safety and optimize clinical outcomes. Full article

Background: Post-traumatic epilepsy (PTE) is a recognized complication of traumatic brain injury (TBI), yet its risk following mild and moderate TBI remains underappreciated. Although mild TBI represents the majority of cases in clinical practice, a subset of patients develop unprovoked seizures months or even years post-injury. This review aims to synthesize current evidence on the incidence and predictors of PTE in mild and moderate TBI and to propose a clinically actionable decision-support tool for early risk stratification. Methods: We performed a narrative review of peer-reviewed studies published between 1985 and 2024 that reported on the incidence, risk factors and predictive models of PTE in patients with mild (Glasgow Coma Scale [GCS] 13–15) and moderate (GCS 9–12 or imaging-positive) TBI. Data from 24 studies were extracted, focusing on neuroimaging findings, early post-traumatic seizures, EEG abnormalities and clinical risk factors. These variables were integrated into a rule-based algorithm, which was implemented using Streamlit to enable real-time clinical decision-making. The decision-support tool incorporated five domains: injury severity, early post-traumatic seizures, neuroimaging findings (including contusion location and hematoma type), clinical and demographic variables (age, sex, psychiatric comorbidities, prior TBI, neurosurgical intervention) and EEG abnormalities. Results: PTE incidence following mild TBI ranged from <1% to 10%, with increased risk observed in patients presenting with intracranial hemorrhage or early seizures. From moderate TBI, incidence rates were consistently higher (6–12%). Key predictors included early seizures, frontal or temporal contusions, subdural hematoma, multiple contusions and midline shift. Additional risk-enhancing factors included prolonged loss of consciousness, male sex, psychiatric comorbidities and abnormal EEG patterns. Based on these features, we developed a decision-support tool that stratifies patients into low-, moderate- and high-risk categories for developing PTE. Conclusions: Even in non-severe cases, patients with mild and moderate TBI who exhibit high-risk features remain vulnerable to long-term epileptogenesis. Our proposed tool provides a pragmatic, evidence-based framework for early identification and follow-up planning. Prospective validation studies are needed to confirm its predictive accuracy and optimize its clinical utility. Full article

Background and Clinical Significance: The pathology of the round ligament (RL) is rare and often remains in the shadow of common surgical emergencies. The preoperative diagnosis is challenging, leaving the surgeon perplexed as to whether and when to operate. The presented case deserves attention due to the difficult decision to operate based solely on the clinical picture, despite negative imaging diagnostic results. Case presentation: A 76-year-old woman was admitted to the Emergency Department with 6 h complaints of epigastric pain, nausea, and vomiting. She was afebrile with stable vital signs. The abdomen was slightly tender in the epigastrium, without rebound tenderness or guarding. The following blood variables were beyond the normal range: WBC—13.5 × 109/L; total bilirubin 26 mmol/L; amylase—594 U/L; CRP 11.4 mg/L; ASAT—158 U/L; and ALAT—95 U/L. The ultrasound (US) and multislice computed tomography (MSCT) of the abdomen were normal. A working diagnosis of acute pancreatitis was established, and intravenous infusions were initiated. The next day, the patient became hemodynamically unstable with blood pressure 80/60 mm Hg, heart rate 130/min, chills and fever of 39.5 °C, and oliguria. There was remarkable guarding and rebound tenderness in the epigastrium. The blood analysis revealed the following: WBC—9.9 × 109/L; total bilirubin—76 µmol/L; direct bilirubin—52 µmol/L; amylase—214 U/L; CRP 245 mg/L; ASAT—161 U/L; ALAT—132 U/L; GGT—272 U/L; urea—15.7 mmol/L; and creatinine—2.77 mg/dL. She was taken to the operating room for exploration, which revealed local peritonitis and phlegmon of the RL. Resection of the RL was performed. The microbiological analysis showed Klebsiella varicola. The patient had an uneventful recovery and was discharged on the 5th postoperative day. In the next months, the patients had several readmissions due to mild cholestasis and pancreatitis. The magnetic resonance demonstrated a duodenal diverticulum adjacent to the papilla, located near the junction of the common bile and pancreatic duct. This clinical manifestation and the location of the diverticulum were suggestive of Lemmel’s syndrome, but a papillary dysfunction attributed to the diverticulum or food stasis cannot be excluded. Conclusion: To our knowledge, we report the first association between RL gangrene and Lemmel’s syndrome. We speculate that duodenal diverticulitis with lymphatic spread of the infection or transient bacteriemia in the bile with bacterial translocation due to papillary dysfunction, as well as cholestasis resulting from the diverticulum, could be plausible and unreported causes of the RL infection. The preoperative diagnosis of RL gangrene is challenging because it resembles the most common emergency conditions in the upper abdomen. The present case warrants attention due to the difficult decision to operate based solely on the clinical picture, despite negative imaging results. A high index of suspicion should be maintained in a case of unexplained septic shock and epigastric tenderness, even in negative imaging findings. MSCT, however, is a valuable tool to avert unnecessary operations in conditions that must be managed conservatively, such as acute pancreatitis. Full article

Background and Clinical Significance: Vascular complications occurring in the context of trans-trochanteric fractures are rare (mean incidence 0.2–0.5%) but can be fatal if not recognized and treated promptly. Most of the previously reported vascular injuries are iatrogenic, and various mechanisms of injury and producing agents have been reported. Case Presentation: We present a rare but severe vascular complication following proximal femur fracture fixation in the case of a 77-year-old patient, specifically, a deep femoral artery injury after DHS osteosynthesis. CT angiography identified the lesion in the territory of the profunda femoris artery, precisely at the level of the most distal screw, suggesting over-drilling as the underlying cause. The case is presented in the context of a literature review, updating the most important features of the vascular complications, incidence, diagnosis and treatment. Conclusions: This case highlights the critical role of early diagnosis and prompt interdisciplinary collaboration between orthopedic and vascular surgeons in managing iatrogenic vascular complications, achieving a favorable outcome. Full article

Background and Clinical Significance: Papillon–Lefèvre syndrome (PLS) is an autosomal recessive genetic skin disorder. Genetic studies have demonstrated that mutations in the Cathepsin-C (CTSC) gene, mapped to chromosome 11q14.1–q14.3, are responsible for the pathogenesis of PLS. The hallmark characteristics of this syndrome are palmoplantar keratoderma and severe periodontal disease that leads to premature tooth loss. Palmoplantar keratoderma commonly manifests during early childhood (ages one to four), followed by the onset of severe periodontitis around the age of three to four years. Although periodontitis and premature tooth loss are considered hallmark features, a limited number of cases lacking oral involvement have been reported, underscoring the phenotypic variability in PLS. Case Presentation: This report describes a 6-year-old female patient whose chief presenting complaint was palmoplantar keratoderma, recurrent skin infections, necrotizing granulomatous inflammation of the kidney, and delayed growth; she was genetically confirmed to have a CTSC mutation associated with PLS, yet without any dental manifestations. The lack of oral manifestations and the presence of necrotizing granulomatous inflammation of the kidney in this genetically validated case highlight an atypical presentation. Conclusions: This report discusses an unusual case of PLS of a patient displaying classic skin features without any dental issues. Full article

Background and Clinical Significance: Mucinous tubular and spindle cell carcinoma (MTSCC) is an uncommon subtype of renal cell carcinoma, representing 1–4% of epithelial renal tumors. It usually shows a low-grade morphology and indolent behavior, although sarcomatoid variants with an aggressive course have been described. Because of its overlap with papillary renal cell carcinoma (papRCC), sarcomatoid RCC, mesenchymal tumors, and oncocytic neoplasms, diagnosis requires the integration of imaging, histopathology, and immunohistochemistry. Case Presentation: We report a 71-year-old female who presented with a three-month history of right-sided lumbar pain and intermittent hematuria. Her laboratory tests were unremarkable. Contrast-enhanced CT revealed a well-circumscribed nodular lesion in the mid-portion of the right kidney, measuring 50 × 47 × 52 mm. The patient underwent right nephrectomy. Macroscopic findings revealed an encapsulated, yellowish-gray nodule (5.2 × 5 × 4 cm) without renal pelvis invasion. Microscopically, the tumor consisted of cuboidal- to spindle-shaped cells arranged in cords and tubular structures within a mucinous stroma, with focal necrosis and foamy macrophages. Immunohistochemistry showed positivity for CK19, CK7, EMA, PAX8, and AMACR, with a Ki-67 index <10%, while CD117, RCC, CD10, and chromogranin were negative. Together, the low Ki-67 proliferation index, absence of invasion, and low-grade histological architecture confirmed MTSCC of low malignant potential. At a five-year follow-up, the patient remained disease-free. Conclusions: MTSCC is a rare renal neoplasm that can be diagnosed by integrating clinico-radiological, histopathological, and immunophenotypic features. Molecular profiling may further distinguish MTSCC from papRCC and identify aggressive variants. Surgical excision remains the cornerstone of management, supported by vigilant long-term follow-up. Full article

Background and Clinical Significance: Binder syndrome or maxillonasal dysplasia is a rare developmental disorder affecting the anterior maxilla and nasal complex, characterized by midfacial hypoplasia, a flattened nasal bridge, and increased nasofrontal angle. Case Presentation: We present a case series of seven fetuses diagnosed with Binder phenotype through targeted ultrasound examination at our prenatal diagnosis center during the SARS-CoV-2 pandemic, between September 2021 and July 2023, including the first case described in the literature before 14 weeks. The median gestational age at diagnosis was 21 weeks. Ultrasound features included flattened fetal facial profile, increased nasofrontal angle (>143°), verticalized nasal bones and widened maxillary alveolar arch. Five cases presented as isolated anomalies, while two showed associated findings including growth restriction and polyhydramnios. Invasive prenatal diagnosis was offered in all cases, with three patients consenting to amniocentesis, all revealing normal karyotype and chromosomal microarray. Pregnancy outcomes varied: three patients opted for termination of pregnancy, one case resulted in intrauterine fetal demise, one delivered prematurely with confirmed postnatal phenotype, and two continued pregnancy with normal delivery. Conclusions: This relatively high case frequency within a short timeframe suggests that Binder syndrome, while rare, may not be as uncommon as previously reported. Accurate ultrasound diagnosis combined with comprehensive genetic counseling enables appropriate pregnancy management and optimal perinatal outcomes. Full article

Background and Clinical Significance: Mucormycosis is a rare but potentially fatal opportunistic fungal infection with high morbidity and mortality rates despite aggressive treatment. Rhinocerebral mucormycosis represents the most common form, requiring prompt recognition and multidisciplinary management. Case Presentation: We report a 60-year-old female with glucose intolerance who developed extensive rhinocerebral mucormycosis involving the right maxillary sinus, orbit, and skull base. Despite initial antifungal therapy with amphotericin B, rapid disease progression necessitated radical surgical intervention including complete right hemimaxillectomy, orbital enucleation, and partial sphenoid bone resection with carotid siphon exposure. Initial reconstruction using a free scapular osteocutaneous flap failed due to vascular compromise, requiring salvage coverage with a temporalis muscle flap. Postoperatively, the patient recovered without cerebrovascular complications. Long-term rehabilitation involved implant-supported prosthetic reconstruction with osseointegrated implants placed in the remaining maxilla and fabrication of a custom obturator prosthesis to restore facial support and masticatory function. Conclusions: This case demonstrates the aggressive nature of mucormycosis requiring extensive surgical resection and highlights the challenges of reconstruction in infected tissues. While free flap reconstruction offers theoretical advantages, local tissue options provide reliable coverage when microvascular procedures fail. Comprehensive multidisciplinary care including prosthetic rehabilitation can achieve satisfactory functional outcomes following radical resection. Full article

Background and Clinical Significance: Bladder neoplasms often present with coexisting thrombi and hematuria, appearing as complex intraluminal masses on imaging, and posing a key diagnostic challenge in distinguishing neoplastic tissue from thrombus, to prevent harmful overstaging. Case Presentation: An 82-year-old man with recurrent gross hematuria and urinary disturbances was evaluated by ultrasound, which identified a large endoluminal lesion in the anterior bladder wall. The patient subsequently underwent contrast-enhanced CT using a second-generation dual-layer spectral CT system, which utilizes a dual-layer detector to simultaneously acquire high- and low-energy X-ray data. Conventional CT images confirmed a multifocal, bulky hyperdense lesion along the bladder wall, protruding into the lumen and raising suspicion for a heterogeneous mass, though further characterization was not possible. Spectral imaging enabled the reconstruction of additional maps—such as iodine density, effective atomic number (Z-effective), and electron density—which were used to further characterize these findings. The combination of these techniques clearly demonstrated differences in iodine uptake and tissue composition within the parietal lesions, allowing for a reliable differentiation between neoplastic tissue and intraluminal thrombus. Conclusions: The integration of conventional CT imaging with spectral-derived maps generated in post-processing allowed for accurate and reliable tissue differentiation between bladder neoplasm and thrombus. Spectral imaging holds the potential to prevent tumor overstaging, thereby supporting more appropriate clinical management. The dual-layer technology enables the generation of these maps from every acquisition without altering the scan protocol, thereby having minimal impact on the daily clinical workflow. Full article

Background and Clinical Significance: Atrial septal defects (ASDs), particularly the ostium secundum type, are congenital cardiac anomalies that can lead to serious complications if left untreated. Percutaneous closure using devices like the Amplatzer Septal Occluder (ASO) has become a widely accepted approach, although complications such as device embolization can occur. Case Presentation: We present a unique case of a 28-year-old woman who developed acute hemodynamic instability and arrhythmias following embolization of an Amplatzer device into the right ventricle during an ASD closure. Despite initial treatment with antiarrhythmic medication, the patient required urgent open-heart surgery for device retrieval and ASD closure. The surgery successfully involved pericardial patch closure of the ASD, device removal from the right ventricle, and the performance of the Kay procedure to address significant tricuspid regurgitation. Postoperative recovery was uneventful, with the patient stabilized and discharged in stable condition. Conclusions: This case highlights the critical need for rapid surgical intervention in cases of device embolization, and the importance of multidisciplinary coordination in managing such complex complications. The combination of ASD closure, device retrieval, and tricuspid valve repair led to a successful outcome, underscoring the importance of timely, decisive action in complex cardiovascular emergencies. Full article

Background and Clinical Significance: Mycotic aortic aneurysm is a rare but life-threatening vascular condition characterized by infection-induced dilation or pseudoaneurysm formation in the aorta. The condition carries a high risk of rupture and mortality, especially in individuals with underlying cardiovascular disease, who have undergone recent vascular procedures, or with immunocompromising comorbidities such as diabetes. Its diagnosis is challenging due to its non-specific symptoms and often requires a high index of suspicion, especially in patients presenting with persistent fever and negative initial imaging. Early recognition and intervention are critical, as delayed treatment significantly worsens outcomes. Case Presentation: A 68-year-old male with a history of coronary artery disease, recent stent placement, and hypertension presented with two days of fever, chills, rigors, and a mild nonproductive cough. The laboratory findings were only significant for leukocytosis. The initial chest X-ray and non-contrast CT scans were unremarkable. He was admitted for presumed pneumonia and started on intravenous antibiotics. Persistent fever prompted further investigation with contrast-enhanced CT, which revealed a distal-aortic-arch pseudoaneurysm and mild mediastinal stranding. Blood cultures grew methicillin-sensitive Staphylococcus aureus (MSSA). Transthoracic echocardiogram was negative for endocarditis. The patient was transferred to a tertiary center, where repeat imaging confirmed a 1.5 cm pseudoaneurysm and a 4 mm penetrating atherosclerotic ulcer. After multidisciplinary assessment, he underwent thoracic endovascular aortic repair (TEVAR) and completed four weeks of intravenous cefazolin. Follow-up imaging showed successful aneurysm repair with no complications. Conclusions: Thoracic mycotic aneurysm is a rapidly fatal entity despite intervention. High clinical suspicion is necessary given its non-specific presentation. It is diagnosed most practically using CTA. In addition to antibiotics, TEVAR is gaining traction as a feasible and a safe alternative to open surgical repair (OSR). Full article

Background and Clinical Significance: Lymphatic-venous malformations (LVMs) are uncommon congenital vascular anomalies with low blood flow, consisting of atypical connections between lymphatic and venous vessels. They may develop in different body regions, with a predilection for lymphatic-rich areas. Fewer than 5% of LVMs are located intra-abdominally, typically arising from the mesentery, retroperitoneum, or greater omentum. Patients with intra-abdominal LVMs may be asymptomatic, but they can also present with symptoms such as acute abdominal pain, chronic discomfort, palpable masses, or progressive abdominal distension. Case Presentation: This case describes a 24-year-old female who presented to our emergency department with progressive abdominal distension, nausea, and vomiting. Conclusions: The diagnosis of LVMs can be challenging and requires a combination of imaging techniques, including ultrasound (US), computed tomography (CT), and magnetic resonance imaging (MRI), along with histological confirmation. Full article

Background and Clinical Significance: Cervical lymphadenopathy is a common condition in children, most often caused by reactive hyperplasia due to viral infections, followed by bacterial infections and, less commonly, malignancies. Supraclavicular lymphadenopathy in children warrants thorough evaluation due to its higher association with malignancy compared to anterior cervical lymphadenopathy. Kikuchi–Fujimoto disease (KFD) is a rare, benign, and self-limiting condition characterized by cervical lymphadenopathy, predominantly affecting young adults—especially Asian women—and is rarely observed in children. We present a case of a 14-year-old girl with cervical and supraclavicular lymphadenopathy diagnosed with KFD. Case Presentation: A previously healthy 14-year-old girl was admitted with a 20-day history of cervical and supraclavicular lymphadenopathy, fever, and 5 kg weight loss. Laboratory investigations revealed leukopenia and lymphopenia, with a weakly positive ANA titer (1:160) and no other significant abnormalities. Extensive infectious workup was negative. Cervical ultrasound showed multiple enlarged, hypoechoic, rounded lymph nodes. CT imaging revealed paraaortic lymphadenopathy without additional findings. Due to the persistence of lymphadenopathy and inconclusive workup, a lymph node biopsy was performed to rule out malignancy. Histopathology was consistent with Kikuchi–Fujimoto disease. Conclusions: This case highlights a rare pediatric presentation of KFD, particularly notable for supraclavicular lymphadenopathy. It underscores the importance of considering a broad differential diagnosis in persistent lymphadenopathy, including rare conditions such as Kikuchi–Fujimoto disease. Full article

Background and Clinical Significance: Retroperitoneal tumors are a rare and diverse group of neoplasms, accounting for less than 1% of adult solid tumors. Retroperitoneal lipomas are particularly uncommon, with fewer than 20 cases described in the literature. Their asymptomatic growth and lack of clear anatomical boundaries can result in delayed diagnosis and substantial tumor size at clinical presentation. This case highlights a rare retroperitoneal lipoma with atypical extension into the right thigh through the muscular lacuna, mimicking a femoral hernia and compressing the femoral nerve—a presentation scarcely reported and clinically significant due to its surgical complexity and risk of recurrence. Case Presentation: We report the case of a 65-year-old woman from an urban setting who presented with progressive right thigh discomfort and lower limb pain during ambulation. The mass had been initially identified two years prior as a small, asymptomatic right inguinal formation during imaging to exclude an inguinal hernia. Computed tomography (CT) and magnetic resonance imaging (MRI) confirmed a large retroperitoneal lipomatous tumor extending to the anteromedial right thigh. Surgical excision was performed through a dual approach: midline laparotomy and thigh incision. A 30 × 30 cm encapsulated lipoma was removed without injuring adjacent nerves or vessels. Histopathological evaluation confirmed a mature lipoma without atypia but with a lipogranulomatous reaction. The patient’s postoperative course was favorable, with minimal residual paresthesia and complete wound healing. Conclusions: Although benign, retroperitoneal lipomas can mimic other pathologies and present surgical challenges when they extend beyond their typical boundaries. Early recognition and coordinated surgical management are crucial for optimal outcomes and prevention of recurrence. Full article

Background and clinical significance: Paget’s disease of bone involves anomalies of the bone metabolism; however, the presence of tumor-derivate abnormal parathyroid hormone (PTH) levels does not represent one of these disturbances. To our best knowledge, the association with normocalcemic variant of primary hyperparathyroidism has been limitedly reported, and here we introduce such an unusual overlap in a male suffering from osteoporosis. Case presentation: A 71-year-old, non-smoker man was hospitalized for mild, nonspecific dysphagia, asthenia, decreased appetite, and mild weight loss during the latest 2 months. His medical history included cardiovascular conditions and an abnormal PTH level with normal serum calcium under daily cholecalciferol supplements (tested twice during latest 12 months). The lab findings pointed out a normocalcemic primary hyperparathyroidism (PTH of maximum 163 pg/mL, and total calcium of 9.3 mg/dL) caused by a right parathyroid tumor of 1.2 cm, as confirmed by computed tomography (CT). Additionally, CT showed a left humerus lesion suggestive of Paget’s disease of bone, a confirmation that also came from the whole-body bone scintigraphy. The subject presented increased P1NP and osteocalcin, CrossLaps as bone formation, and resorption markers, with normal total alkaline phosphatase. CT scan also detected multiple vertebral fractures and small kidney stones. Zoledronate i.v. (3 mg, adjusted for creatinine clearance) was administered, taking into consideration all three bone ailments (Paget’s disease, high PTH/calcium, and osteoporosis) with further follow-up. Conclusions: This case highlights the following technical notes based on a real-life setting: 1. Despite the mentioned bone diseases, no bone pain was present. Loss of appetite, dysphagia, and asthenia may be a consequence of mineral metabolism disturbances. 2. The panel of blood bone turnover markers levels might be related to both hyperparathyroidism and Paget’s disease; notably, rare cases of Paget’s disease with normal alkaline phosphatase were prior reported. 3. A meticulous differentiation between secondary and primary hyperparathyroidism is required. In this instance, lack of hypocalcaemia and vitamin D deficiency was suggestive of the diagnosis of a primary variant. 4. Kidney stones, osteoporosis, and osteoporotic fractures may be correlated with both conditions, as well, while a dual perspective of the therapy, since the patient was not a parathyroid surgery candidate, included a first dose of zoledronate with consecutive long-term follow-up. To our best knowledge, the co-presence of normocalcemic variant of primary hyperparathyroidism represents an exceptional finding in a patient synchronously diagnosed with Pagetic lesions and osteoporosis complicated with vertebral fractures. Full article

Case Presentation: This report describes a case of acute severe myelopathy attributed to nitrous oxide abuse in a 30-year-old patient presenting with gait instability. Background and Clinical Significance: It depicts the challenges of early recognition in a primary care setting, and highlights through an individual patient-centered experience the profound social impacts of nitrous oxide abuse. Discussion and Conclusions: This case underscores the need for structured diagnostic approaches, interdisciplinary care, and further research to optimize treatment protocols and prevention strategies to warn nitrous oxide-related complications. Finally, this case quotes both key clinical and paraclinical screening indicators to facilitate case identification in emergency and primary care settings. Full article