Reports, Volume 8, Issue 3 (September 2025) – 90 articles

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

Background and Clinical Significance: Retained intrarenal foreign bodies are rare adverse events after endourological stone surgery. Guidewire fracture or detachment is uncommon and can trigger infection, obstruction, or encrustation if unrecognized. We report antegrade percutaneous snare retrieval of a retained hydrophilic guidewire tip and provide a concise literature review (seven PubMed-indexed intrarenal cases identified by a structured search) to inform diagnosis, management, and prevention. We also clarify the clinical rationale for an antegrade versus retrograde approach and the sequencing of decompression, definitive stone management, and stenting in the context of sepsis. Case Presentation: A 75-year-old woman with diabetes presented with obstructive left pyelonephritis from ureteral and renal calculi. After urgent percutaneous nephrostomy, she underwent semirigid and flexible ureteroscopic lithotripsy with double-J stenting; the nephrostomy remained. During routine tube removal, the stent was inadvertently extracted. Seven days later she re-presented with fever and flank pain. KUB and non-contrast CT showed a linear 4 cm radiopaque foreign body in the left renal pelvis with dilatation. Under local anesthesia and fluoroscopy, a percutaneous tract was used to deploy a 35 mm gooseneck snare and retrieve the distal tip of a hydrophilic guidewire (Sensor/ZIP-type). Inflammatory markers were normalized; the nephrostomy was removed on day 5; six-week imaging confirmed complete clearance without complications. Conclusions: Retained guidewire fragments should be suspected in postoperative patients with unexplained urinary symptoms or infection. Cross-sectional imaging confirms the diagnosis, while minimally invasive extraction—preferably an antegrade percutaneous approach for rigid or coiled fragments—achieves prompt resolution. This case adds to the seven prior PubMed-indexed intrarenal reports identified in our review, bringing the total to eight, underscoring prevention through pre-/post-use instrument checks, immediate fluoroscopy when withdrawal resistance occurs, and structured device accounting to avoid “never events.” Full article

Background and Clinical Significance: Tooth impaction is a developmental anomaly characterized by the inability of a tooth to emerge into its predetermined anatomical position within the oral cavity during the normal eruption period. Impaction of the mandibular second premolar is an uncommon condition and poses a heightened risk of neurosensory injury when the tooth is adjacent to the mental foramen. Early diagnosis and precise planning are therefore essential. Case Presentation: This case report presents a rare instance of an asymptomatic impacted mandibular second premolar located in close proximity to the mental foramen in a 44-year-old female patient. The impaction was discovered incidentally on an orthopantomogram, and Cone-Beam Computed Tomography (CBCT) confirmed intimate contact between the root of the impacted second premolar and the mental nerve. Surgical removal was performed under local anesthesia via a conservative triangular flap and a corticotomy window. Platelet-Rich Fibrin (PRF) generated from autologous blood was placed in the socket to foster healing. The proximity of the mental foramen dictated minimal bone removal and atraumatic luxation to avoid nerve stretch or compression. PRF was selected as an effective biomaterial shown to accelerate soft tissue healing and moderate postoperative discomfort, potentially reducing the likelihood of neurosensory disturbance. The socket presented satisfactory healing, and neurosensory function was normal at the first week follow-up and remained normal at 7 months postoperatively (longest follow-up), and no complications were reported by the patient. Conclusions: CBCT-guided planning, meticulous surgical techniques, and adjunctive PRF allowed for safe extraction without post-operative paraesthesia. Timely identification of such rare impactions broadens treatment options and minimizes complications. Full article

Background and Clinical Significance: The recreational use of semisynthetic cannabinoids (SSCs) is increasing, and SSCs account for more than 40% of all new substances reported at the European level. Although designed to mimic the effects of tetrahydrocannabinol (THC), the primary psychoactive compound in cannabis, evidence suggests that certain SSCs may elicit stronger, prolonged and unintended pharmacological effects. SSCs are easily accessible, particularly via online retailers, but in some countries, SSCs are also sold in convenience stores or specialty stores selling legal low-THC or cannabidiol (CBD) products. Often, SSCs are sold as “legal highs” and are found in various forms, including herbal mixtures (spice), vape products, and edibles such as cookies and candies, specifically targeting young users, including children. The products are frequently mislabeled and sold as souvenirs or aromatic potpourri to bypass regulations. Case Presentation: We present a case of a male in his early forties who was admitted to the Emergency Department due to noticeable deficits in alertness and responsiveness after recreational ingestion of two cannabis cookies labeled to contain 40 mg “CC9” and a bite of a gummy with unknown contents. The patient experienced vomiting and visual problems, and suffered from nine days of cognitive and physical impairment. HHC-C9, a novel SSC, was detected in blood through forensic toxicological analysis. Conclusions: Recreational use of HHC-C9 can cause vomiting, visual disturbances, and drowsiness, potentially requiring hospital treatment. Potency, clinical effects, and toxicity of SSCs can vary significantly, and in combination with easy accessibility, SSCs pose a potential risk of intoxication to unaware consumers. Full article

Background and Clinical Significance: Endogenous hyperinsulinemic hypoglycemia (HHE) is a rare cause of hypoglycemia, primarily associated with insulinomas, the most common functional pancreatic neuroendocrine tumors. This clinical case explores the diagnostic and therapeutic challenges in patients with recurrent hypoglycemia and no history of diabetes, emphasizing the importance of a multidisciplinary approach to optimize outcomes. Case Presentation: We present a 45-year-old woman presenting with severe hypoglycemic episodes and persistent neuropsychiatric symptoms for over a year. Prolonged fasting tests, insulin and C-peptide level measurements, and specialized imaging studies (endoscopic ultrasound and pancreatic protocol computed tomography) were conducted. Surgical resection of the identified lesion was subsequently performed. Diagnostic studies confirmed a well-differentiated 2.5 cm insulinoma, treated with partial pancreatoduodenectomy. The patient developed postoperative complications that required interdisciplinary management, ultimately achieving clinical stabilization and sustained normoglycemia. Conclusions: This case underscores the importance of considering insulinoma in the differential diagnosis of recurrent hypoglycemia in non-diabetic patients, using Whipple’s triad as a key diagnostic criterion. It also highlights the role played by comprehensive strategies combining functional testing (e.g., prolonged fasting) and advanced imaging to ensure timely treatment and reduce the risk of chronic complications. Full article

Background and Clinical Significance: Cocaine use disorder (CUD) is characterized by recurrent, cue-triggered and intrusive urges to use cocaine (craving), compulsive drug-seeking despite adverse consequences, and impaired control over intake, often co-occurring with excess weight and hedonic overeating. A dual-target rationale supports the fixed-dose naltrexone–bupropion (NB) combination: μ-opioid receptor (MOR) antagonism may mitigate opioid-facilitated mesolimbic reinforcement, while bupropion’s catecholaminergic effects and POMC activation support satiety and weight loss. Case Presentation: We describe a case study from an Italian outpatient setting of a 35-year-old man with a 10-year history of CUD, multiple failed detoxifications, and class I obesity (body mass index [BMI] 31 kg/m²) who initiated fixed-dose NB and was followed for 12 weeks under routine care. NB was associated with progressive attenuation of cue-reactive cocaine craving and improved appetite control, alongside clinically meaningful weight reduction, without psychiatric destabilization or emergent safety concerns; medication adherence remained stable. The patient maintained abstinence throughout follow-up and reported improved psychosocial functioning. Quantitatively, CCQ-B scores decreased from 7.2 at baseline to 2.1 at Week 12 (≈70% reduction), while BMI decreased from 31.0 to 25.5 kg/m² (≈−17.7%), with clinically meaningful weight loss and stable adherence. Conclusions: This case study supports the mechanistic rationale that dual NB therapy can simultaneously attenuate cocaine craving and facilitate weight control, addressing two clinically relevant targets in CUD. Although evidence for NB in CUD remains limited and mixed across stimulant populations, this observation highlights a plausible, testable therapeutic hypothesis that integrates mesolimbic and hypothalamic pathways and may inform the design of controlled trials in patients with co-occurring CUD and obesity. Full article

Involuntary urinary leakage due to stress urinary incontinence in women represents a widespread health condition that reduces quality of life. Background: Treatment with tension-free vaginal tape (TVT) remains the most used procedure, although its impact on quality of life, specifically regarding sexual function effects, has not been thoroughly investigated. The aim of our study is to achieve a broader understanding of the full range of outcomes after surgery, emotional well-being, and sexual function. Materials and Methods: The present prospective cohort study was conducted between 15 July 2023 and 15 June 2024 in the Emergency County Clinical Hospital Targu Mures, Department of Obstetrics and Gynecology. This is an investigation of TVT surgery and its impact on urinary incontinence, conducted by evaluating bladder dysfunction and sexual function before and after surgical intervention, as well as considering physical and psychological outcomes using specific questionnaires. Results: There was a 91.7% objective cure rate for incontinence, while urinary symptoms, sexual function, and emotional health significantly improved, urine leakage associated with strong urgency (p = 0.0002), urine leakage associated with coughing, sneezing, or laughing (p ≤ 0.0001), and patient sexual activity and emotional health also improved after surgery (p ≤ 0.0001). Furthermore, colorectal symptoms improved. Conclusions: This study emphasizes that for the best recovery of sexual and emotional health post-surgery, complete symptom removal is a requirement. Additionally, the significance of combined questionnaires in assessing treatment efficacy is highlighted. A larger sample size of patients and a longer follow-up are required before recommending this procedure as a standard treatment. Full article

Background and Clinical Significance: Percutaneous vertebroplasty is an effective procedure for patients with osteoporosis and fractures. However, notable side effects may occur. Cement leakage into the vascular system may be incidental, with effects ranging from asymptomatic to life-threatening conditions. The treatment of extravasation of the cement and pulmonary embolism does not have definitive guidelines and requires specific treatment for every patient, ranging from basic anticoagulation to surgical procedures. Cement embolisms without periprocedural complications—such as cardiac perforation or massive pulmonary embolism—are often stable. However, symptomatic presentations with hemodynamic instability can occur. We report a clinically significant case of symptomatic cement pulmonary embolism resulting in shock. Case Presentation: A 68-year-old female patient with osteoporosis and a history of cement vertebroplasty two weeks prior to admission for vertebral compression fracture arrived with a three-day history of left leg swelling and shortness of breath. Vital signs revealed hypotension and the lab tests showed elevated lactate and D-dimer, mild leucocystosis, normal PCT and a threefold increase in CRP. The ultrasound confirmed complete thrombosis of the left external iliac and common femoral vein. The thoraco-abdominal CT demonstrated the extravasation of the cement from vertebroplasty to the inferior vena cava, lumbar veins, coupled with multiple cement structures in the segmental lobar pulmonary arteries. The echocardiography showed preserved right ventricular function. The management included intravenous fluids, anticoagulation and norepinephrine. Conclusions: This case underlines that cement pulmonary embolism following vertebroplasty, while typically undetected, can result in significant hemodynamic compromise even in the absence of right heart failure, potentially mediated by an inflammatory response. Importantly, it highlights the possibility of delayed clinical deterioration, with instability manifesting two weeks post-procedure—distinct from the more commonly observed immediate peri-procedural complications or other stable delayed presentation. Full article

Background and Clinical Significance: The study aims to investigate the application of the Rovatti Method^® in improving Cobb angles, angle of trunk rotation (ATR), aesthetics, and quality of life in the conservative treatment of adolescent idiopathic scoliosis (AIS); Case Presentation: The case concerns the application of the Rovatti Method^® in treating a 13-year-old girl with mild right thoracolumbar AIS. This method involves the use of elastic bands designed to guide and enhance proprioceptive and mechanical stimuli during the patient’s active self-correction exercises. The treatment lasted 7 months; a radiographic control showed an improvement in the right thoracolumbar curve, with Cobb angles decreasing from 21° to 14°, ATR from 10° to 8°, TRACE (Trunk Aesthetic Clinical Evaluation) decreasing from 8 to 4 points, and the Scoliosis Research questionnaire (SRS-22) improving from 2.27 to 3.05 points. Conclusions: Concerning this hypothesis-generating observation case, the Rovatti Method^® may represent a kinesiological approach for the treatment of AIS, potentially contributing to improvements in Cobb angles, ATR, aesthetics, and quality of life. Full article

Background and Clinical Significance: Cardiac myxomas, though typically benign and asymptomatic, can rarely present with acute cardiovascular compromise. We report a case of a left atrial myxoma presenting as acute pulmonary edema in a patient with prior normal cardiac imaging. Case Presentation: A 55-year-old male, with a history of thrombolyzed myocardial infarction and normal coronary angiography and echocardiography five years earlier, was admitted with acute dyspnea and pulmonary edema. Bedside transthoracic echocardiography (TTE) revealed a left atrial mass causing severe mitral inflow obstruction. Emergency surgical excision was performed, and the mass was submitted for histopathological analysis. Discussion: Histology confirmed cardiac myxoma. The procedure and recovery were uneventful, and follow-up at one month confirmed no recurrence. Conclusions: This case illustrates the potential for cardiac myxoma to manifest suddenly with life-threatening symptoms, even after previously normal investigations. Echocardiography remains pivotal in diagnosing intracardiac masses and guiding timely intervention. Full article

Background and Clinical Significance: Posteriorly migrated lumbar disc herniation [PMLDH] is a rare entity that may present with atypical clinical and radiological features, often mimicking other spinal pathologies. Migration of sequestered fragments through the interlaminar space is exceptionally uncommon, and diagnostic challenges are further amplified in the presence of spinal instability. While MRI and CT are generally sufficient for diagnosis, undetected lesions on preoperative imaging may complicate clinical management. Case Presentation: A 59-year-old male presented with acute low back pain and left-sided radiculopathy. Examination revealed mild motor weakness in ankle dorsiflexion. MRI showed L4–L5 segmental instability with central canal stenosis but no migrated disc fragment. Owing to neurological deficit, decompressive laminectomy with posterior instrumentation was performed. Intraoperatively, a posteriorly migrated sequestered fragment compressing the thecal sac was excised and confirmed as degenerative disc material. Postoperatively, the patient’s neurological deficit and radicular pain resolved, with no new complaints at 3-month follow-up. Conclusions: This case highlights an unusual presentation of PMLDH in a patient with lumbar stenosis and spinal instability, undetected on preoperative imaging. Recognition of the biomechanical predisposition at the L3–4 and L4–5 levels is important in understanding such rare migrations. Although literature emphasizes early surgical intervention for PMLDH, our patient required urgent surgery due to neurological deficits rather than a definitive preoperative diagnosis. Further studies are warranted to clarify the relationship between instability and posterior migration. Full article

Background: Prader–Willi Syndrome (PWS) is a genetic neurodevelopmental disorder caused by an alteration of the paternal chromosome 15q11-q13. Youth with PWS present hyperphagia, increased fat/decreased muscle mass, hypotonia, and decreased metabolic rate with risk of obesity. Thermoregulation problems have been previously reported with hypothermia in adults or hyperthermia in children/infants with PWS. Methods: We retrospectively examined a cohort of 44 youths with PWS, 8–16 years old, presenting with a medical history of temperature dysregulation (TD), hypothermia or hyperthermia. Participants with (n = 10) and without (n = 34) a history of TD were compared for anthropometrics, body composition, medical history, and motor characteristics. Results: Youth with TD presented with hypothermia (n = 8), hyperthermia (n = 2), or both conditions (n = 2). Non-parametric statistics showed no significant differences in age, anthropometrics, body composition, or motor characteristics between the groups (p ≥ 0.064). Those with TD presented with a higher frequency of sleep apnea versus those without (50% vs. 18%; p = 0.038). Conclusions: The prevalence of TD in the cohort was one in five youth with PWS, suggesting that the problem is not isolated. The results do not suggest that anthropometrics, body composition, or motor characteristics explain differences in temperature excursions in youths with PWS. Possible physiological mechanisms and future research are discussed. Full article

Background and Clinical Significance: Arterial and venous thromboses are typically distinct clinical entities, each governed by unique pathophysiological mechanisms. The concurrent manifestation of both, particularly in the setting of massive pulmonary embolism (PE), is exceptionally rare and poses significant diagnostic and therapeutic challenges. Case Presentation: This report describes a 61-year-old male with well-controlled hypertension and type 2 diabetes who developed extensive thromboses involving deep vein thrombosis (DVT) of the right popliteal vein, arterial thrombosis of the left iliac artery, and massive PE. The patient was initially managed conservatively, in accordance with the European Society of Cardiology (ESC) 2019 Guidelines for Acute PE, using unfractionated heparin (UFH), low-molecular-weight heparin, a direct oral anticoagulant (DOAC), and adjunctive therapy. This approach was chosen due to the absence of hemodynamic instability. However, given failed percutaneous revascularization and persistent arterial occlusion, surgical thromboendarterectomy (TEA) was ultimately required. Post hoc genetic testing was prompted by the complex presentation in the absence of classical provoking factors—such as trauma, surgery, malignancy, or antiphospholipid syndrome—consistent with recommendations for selective thrombophilia testing in atypical or severe cases. The analysis revealed four thrombophilia-associated polymorphisms: heterozygous Factor V Leiden (FVL; R506Q genotype), Plasminogen Activator Inhibitor-1 (PAI-1; 4G/5G genotype), Methylenetetrahydrofolate reductase (MTHFR; c.677C > T genotype), and homozygous Angiotensin-Converting Enzyme Insertion/Deletion (ACE I/D; DD genotype). Conclusions: While each variant has been individually associated with thrombotic risk, their co-occurrence in a single patient with simultaneous arterial and venous thromboses has not, to our knowledge, been previously documented. This case underscores the potential for gene–gene interactions to amplify thrombotic risk, even in the presence of variants traditionally considered to confer only modest to moderate risk. It highlights the need for a multidisciplinary approach and raises questions regarding pharmacogenetics, anticoagulation, and future research into cumulative genetic risk in complex thrombotic phenotypes. Full article

Background and Clinical Significance: Rhabdomyosarcoma (RMS) is a rare and aggressive malignant soft-tissue sarcoma (STS) arising from skeletal connective tissues and is most commonly seen in the pediatric population. The pleomorphic subtype is mostly seen in adults in the sixth and seventh decades of life, representing 1% of all histological types of RMS and having a very poor prognosis. Case Presentation: This report presents the case of a 63-year-old male with a medical history of papillary thyroid cancer, who presented with an ulcer-hemorrhagic malignant tumor, namely, a poorly differentiated desmin-positive pleomorphic rhabdomyosarcoma (PRMS), with impressive dimensions located on the posterior thoracic wall. This tumor was surgically removed via a wide resection, followed by palliative chemotherapy and radiotherapy. However, the patient relapsed locally, with pulmonary, bone, and lymph node metastases. The peculiarity of this case is represented by the rapid growth, aggressive nature, and high metastatic potential of the adult RMS, as well as its poor response to treatment. Conclusions: The presented case underscores the need for early diagnosis, multidisciplinary management, and exploration of molecular profiling for therapeutic planning. Full article

Background and Clinical Significance: In most cases, the success of radiotherapy in the treatment for skin cancer is limited, particularly due to the irregularities of the neoplasm’s surfaces or even tissue discontinuity. Based on a comprehensive clinical assessment, the therapeutic approach for radiotherapy was established for the patients included in this study. Wax-paraffin (50:50) devices were custom-designed for radiotherapy treatment, confirming adequate homogeneity and conformity indices for doses of 55–66 Gy, and chemotherapy when necessary. Toxicity and treatment response were also assessed; Cases Presentation: For patient 1, two lesions located on the right nasolabial fold and right thigh were treated with radiation, and a 1 cm thick wax-paraffin surface bolus was designed, allowing for improved dose distribution and favorable local response. For patient 2, in addition to the thick wax-paraffin homogenizer, lead eye protectors were designed due to the location of the tumor, with the aim of protecting organs at risk. The treatment in this patient resulted in effective local response. Finally, for patient 3, with a lesion in the supraclavicular region extending to the left shoulder due to acantholytic squamous cell carcinoma with secondary carcinomatous lymphangitis, 1 cm thick wax-paraffin surface homogenizers were used; Conclusions: Due to the characteristics of the customized homogenizers, tumor lesion remission was successfully achieved in all three patients, highlighting both the advantages of these devices and their efficacy in dose distribution and local response in radiotherapy treatment of non-melanoma skin carcinoma. Full article

Background and Clinical Significance: Acquired angioedema (AAE) is a rare and potentially life-threatening condition characterized by acquired deficiency of C1-inhibitor (C1-INH) resulting in hyperactivation of the classical complement pathway. AAE occurs in association with malignancies or autoimmune diseases. Infectious triggers are rarely encountered, and the underlying mechanisms have yet to be completely clarified. Case Presentation: This case involves a previously healthy 19-year-old male who was admitted with Mycoplasma pneumonia and oral ulcers, subsequently developing unilateral facial angioedema. Laboratory studies demonstrated reduced C4, decreased levels and activity of C1-INH, and reduced C1q, all consistent with acquired C1-INH deficiency. These findings were attributed to the presence of cold agglutinins, which are frequently observed in Mycoplasma pneumoniae infections. Following treatment with icatibant, a bradykinin B2 receptor antagonist, the patient’s angioedema resolved rapidly. An exhaustive workup found no evidence of underlying systemic disorders, and the patient did not experience any angioedema attacks following resolution of the infection. Conclusions: The presence of cold agglutinins, commonly associated with Mycoplasma infections, can precipitate a decline in C1-INH levels, resulting in complement pathway dysregulation. This disruption leads to an excess of bradykinin, followed by increased vascular permeability and localized edema. Full article

Background and Clinical Significance: Cystinuria is the most common genetic cause of pediatric nephrolithiasis, characterized by impaired renal cystine reabsorption and resulting in increased urinary cystine excretion. Due to the poor solubility of cystine at normal urine pH, increased urinary cystine excretion leads to urine supersaturation and precipitation of cystine, resulting in nephrolithiasis. Case Presentation: Here, we report two cases of female patients diagnosed with cystinuria caused by SLC7A9 mutations. Both patients were initially managed with conservative treatments to minimize stone recurrence including increased oral fluid intake, a low-salt/low-protein diet, and potassium citrate supplementation with the goal of reducing urinary cystine levels and minimizing stone recurrences. Due to persistent stone formation, the patients were started on two distinct cystine-binding thiol medications. One patient was initiated on tiopronin, and the other on D-penicillamine. Tiopronin and D-penicillamine are both used in the treatment of pediatric cystinuria, although tiopronin is often preferred due to its more favorable side effect profile. However, due to insurance constraints, D-penicillamine was initiated for one patient in place of tiopronin. Since the initiation of these two distinct cystine-binding thiol medications, both patients have demonstrated reduced urinary cystine excretion and minimal to no recurrence of kidney stones. Conclusions: Cystine-binding thiols, including tiopronin and D-penicillamine, can both be used in the management of cystinuria in pediatric patients. Full article

Background and Clinical Significance: Triosephosphate isomerase (TPI) deficiency is a rare autosomal recessive metabolic disorder caused by a pathogenic variant in the TPI1 gene. It is characterised by chronic haemolytic anaemia, progressive neuromuscular dysfunction, and reduced life expectancy. Patients typically present with symptoms in the first few months of life, including muscle weakness, ataxia, and recurrent respiratory infections. Diagnosis is confirmed by genetic testing, and management is generally symptomatic as no treatment is available. Case Presentation: We describe the case of an infant diagnosed with TPI deficiency in the context of haemolytic anaemia with progressive neurological deterioration and respiratory failure. Conclusions: This case illustrates the complexity of the disease and highlights the importance of early diagnosis and contributes to the limited literature by providing a detailed clinical description and highlighting the diagnostic challenges associated with this condition. Beyond its clinical relevance, this report emphasises the potential role of personalised medicine in the management of TPI deficiency. Early identification of specific genotypes may inform prognosis and guide individualised supportive strategies. As knowledge of the molecular underpinnings of TPI deficiency expands, opportunities may emerge for targeted therapeutic approaches tailored to patient-specific characteristics. Full article

Background and Clinical Significance: Uterine arteriovenous malformation (AVM) is a rare but potentially life-threatening condition due to the risk of severe acute hemorrhage. Unlike AVMs in other anatomical locations, which are predominantly congenital, uterine AVMs are often acquired, typically developing after uterine procedures such as dilatation and curettage (D&C), cesarean section, or pregnancy-related events. Women commonly present with abnormal bleeding disorders. Case Presentation: We are presenting the case of a 41-year-old Caucasian woman with secondary amenorrhea three months after vacuum curettage in the 7th week of pregnancy. Based on her clinical history and the findings on transvaginal sonography (TVS), uterine AVM was highly suspected. Contrast-enhanced magnetic resonance imaging (MRI) confirmed the diagnosis. The patient underwent successful embolization of the left uterine artery. Follow-up examinations demonstrated complete resolution of the vascular malformation, and regular menstrual cycles resumed during her recovery. With the increasing frequency of uterine surgical interventions, the incidence of uterine AVMs is also expected to rise. The clinical impact is significant when fertility preservation and family planning are still ongoing. To the best of our knowledge, this is the first reported case in which amenorrhea is the primary presenting symptom of a uterine AVM. Conclusions: Given the high risk of life-threatening hemorrhage associated with undetected or incorrectly treated AVMs, their presence must always be carefully ruled out in case of bleeding disorders after pregnancy or uterine surgery. Accurate diagnosis prior to any further intrauterine interventions, such as curettage, is crucial to prevent severe complications and ensure appropriate management. In order to avoid life-threatening complications, the possibility of uterine AVM should be considered in the differential diagnosis even in the presence of amenorrhea. The proposed diagnosis and treatment algorithm for uterine AVMs can help avoid misdiagnosis. Full article

Background and Clinical Significance: Patients with a neurodegenerative condition known as posterior cortical atrophy (PCA) can present with attention impairments across a variety of cognitive contexts, but the consequences of these are little explored in example of single word reading. Case Presentation: We present a detailed single-case study of KL, a local resident of South Wales, a patient diagnosed with posterior cortical atrophy (PCA) in 2018, whose reading and letter-naming abilities are selectively disrupted under non-canonical visual presentations. In particular, KL shows significantly impaired accuracy performance when reading words presented in tilted (rotated 90°) format. By contrast, his reading under conventional horizontal (canonical) presentation is nearly flawless. Whilst other presentation formats including, mixed-case text (e.g., TaBLe) and vertical (marquee) format led to only mild performance decrements—even though mixed-case formats are generally thought to increase attentional ‘crowding’ effects. Discussion: These findings indicate that impairments of word reading can emerge in PCA when visual-attentional demands are sufficiently high, and access to ‘top down’ orthographic information is severely attenuated. Next, we explored a cardinal feature of attentional dyslexia, namely the word–letter reading dissociation in which word reading is superior to letter-in-string naming. In KL, a similar dissociative pattern could be provoked by non-canonical formats. That is, conditions that similarly disrupted his word reading led to a pronounced disparity between word and letter-in-string naming performance. Moreover, different orientation formats revealed the availability (or otherwise) of distinct compensatory strategies. KL successfully relied on an oral (letter by letter) spelling strategy when reading vertically presented words or naming letters-in-strings, whereas he had no ability to engage compensatory mental rotation processes for tilted text. Thus, the observed impact of non-canonical presentations was moderated by the success or failure of alternative compensatory strategies. Conclusions: Importantly, our results suggest that an attentional ‘dyslexia-like’ profile can be unmasked in PCA under sufficiently taxing visual-attentional conditions. This approach may prove useful in clinical assessment, highlighting subtle reading impairments that conventional testing might overlook. Full article

Background and Purpose: Spontaneous intracerebral hemorrhage (ICH) is associated with high rates of morbidity and mortality. Early hematoma expansion (HE) is a key driver of poor outcomes, yet readily available non-contrast CT (NCCT) markers remain underused. We assessed four predefined NCCT signs—Blend Sign (BS), Black Hole Sign (BHS), Irregular Shape (IRS), and Satellite Sign (SS)—and a simple composite score (SUM_BBIS, 0–4) for their association with HE and in-hospital mortality. Methods: We retrospectively analyzed 404 consecutive adults with primary spontaneous ICH admitted to a tertiary-care center between January 2017 and December 2023. Patients with secondary causes of hemorrhage or without follow-up NCCT were excluded. Each sign was scored dichotomously by blinded readers and summed to form the SUM_BBIS. HE was defined as a >6 mL or >33% volume increase on repeat NCCT within 24–48 h. Outcomes included HE and in-hospital mortality; secondary analyses explored relationships with baseline hematoma volume, location, intraventricular extension (IVH), and comorbidities. Results: Among 404 patients, Irregular Shape was most frequent (62.1%), followed by Satellite Sign (34.9%), Black Hole Sign (31.1%), and Blend Sign (15.3%). Hematoma expansion occurred in 22.0% (89/404). Expansion was more common when ≥1 sign was present, with the Black Hole Sign showing the strongest association (56.2% vs. 23.8%; p < 0.001). In-hospital mortality rose stepwise with higher SUM_BBIS (mean 1.95 in non-survivors vs. 0.93 in survivors; p < 0.001). Conclusions: The four predefined NCCT signs, particularly BHS, identify ICH patients at increased risk of HE and in-hospital death. A simple, purely imaging-based composite (SUM_BBIS) captures cumulative radiological complexity and stratifies risk in a stepwise manner. Systematic evaluation of these markers may enhance early triage and inform timely therapeutic decisions, especially in emergency and resource-limited settings. Full article