Reports

Background and Clinical Significance: Avatar Therapy (AT) for individuals with treatment-resistant auditory verbal hallucinations (AVHs) in schizophrenia aims to address emotional responses, beliefs about voices, self-perception, and coping strategies. This study focuses on three participants who, during AT, shifted their belief about the origin of their most distressing voice from an external source to a self-generated one. Case Presentation: The objective of this study was to explore the evolution of the reattribution of the participants’ most distressing voice to oneself during AT and the patients’ perception of this reattribution. Immersive sessions and semi-structured interviews were transcribed and qualitatively described to provide a session-by-session account of the evolution of each participant’s AVH reattribution to themselves during the course of AT, along with their perceptions of this reattribution. This process led to the recognition that initially perceived as external voices were internally generated thoughts, reflecting how participants viewed themselves. Two participants reported a reduction in AVH severity. All three described positive changes in how they related to their voices and self-perception. Additional improvements were observed in emotional regulation, social functioning, and engagement in personal projects. This reassignment of the voice from an external source to an internal one suggests that Conclusions: AT can modify how individuals relate to their voices and may empower them to regain control over their hallucinations. However, given the exploratory nature of this study, the results should be interpreted as examples. Full article

Neurofibromatosis type 1 (NF1) predisposes individuals to various peripheral nerve sheath tumors (PNSTs), including benign neurofibromas, malignant peripheral nerve sheath tumors (MPNSTs), and intermediate lesions known as atypical neurofibromatous neoplasms of uncertain biologic potential (ANNUBP), previously often termed atypical neurofibroma. These atypical lesions are considered premalignant precursors to MPNST.4 We present the case of a 33-year-old male with NF1 who developed a rapidly growing, painful mass in his right calf. Clinical examination revealed signs consistent with NF1. Magnetic resonance imaging showed a large, heterogeneous mass in the lateral compartment. Biopsy revealed a neurofibroma with hypercellularity, moderate atypia, scarce S100 positivity, focal CD34 positivity, and an elevated Ki-67 proliferation index of 10–12%, consistent with ANNUBP. The patient underwent wide surgical resection, including the fibula and peroneal muscles. At the 30-month follow-up, there was no local recurrence, though the patient had a mild residual limp. This case highlights the clinical presentation, diagnostic features, and management considerations for ANNUBP in NF1, emphasizing the importance of recognizing warning signs and the role of pathology in guiding treatment for these high-risk precursor lesions. Full article

Disseminated nocardiosis is a rare, life-threatening infection, often misdiagnosed due to its resemblance to other conditions. We report a case of disseminated nocardiosis in a 62-year-old post-renal transplant patient presenting with pulmonary, hepatic, and pancreatic lesions. Despite multiple negative bacterial cultures, a histopathological examination of the liver revealed necrotizing granulomas with filamentous microorganisms, ultimately identified as Nocardia. This case highlights diagnostic challenges and the importance of integrating microbiological, pathological, and radiographical findings to manage and diagnose disseminated nocardiosis infections in immunocompromised individuals. Full article

Background and Clinical Significance: Neuromyelitis optica (NMO) is a chronic demyelinating inflammatory disease of the central nervous system (CNS), mediated by autoantibodies against aquaporin-4 (AQ4) receptors. In the spectrum of NMO, other autoimmune diseases also coexist, though their association with systemic lupus erythematosus (SLE) is rare. Case Presentation: We present two cases of patients in their 70s who were diagnosed with NMO in the context of SLE. The first case concerns a 78-year-old woman with drug-induced SLE and thoracic myelitis who developed T4-level incomplete paraplegia over three weeks. The second case involves a 71-year-old woman with a history of SLE and myasthenia gravis, presenting with cervical myelitis with progressive worsening of walking and C4-level paraparesis over two months. In both cases, elevated serum anti-AQ4 titers were detected, establishing the diagnosis of NMO and differentiation from an atypical manifestation of SLE-related myelitis. High doses of intravenous corticosteroids with gradual tapering, along with cyclophosphamide, followed by rituximab, were administered in both patients. The first patient showed a poor response, while the second showed improvement. Conclusions: The coexistence of NMO with SLE is rare, but the occurrence of myelitis in patients with connective tissue diseases should raise the suspicion of NMO, especially in elderly women and several years after the diagnosis of SLE. Time to treatment is critical, as delays in treating NMO can result in cumulative and disabling damage. Full article

Background and Clinical Significance: Evaluating wide complex rhythms in patients with permanent pacemakers can be a diagnostic challenge, particularly when the rhythm is irregular. While pacemaker-mediated rhythms are typically regular and predictable, the appearance of wide complex irregular rhythms raises concerns ranging from lead malfunction to life-threatening arrhythmias, such as ventricular tachycardia. Understanding the interplay between intrinsic cardiac activity and device function is crucial for timely and accurate diagnosis in this increasingly common clinical scenario. Case presentation: We report on a 74-year-old female with a VVI pacemaker implanted for binodal disease, who presented with intermittent palpitations and an irregular rhythm. The patient has a recent history of falling on her right shoulder, which is also the site of the device implantation. We used a clinical step-by-step approach to rule out pacemaker malfunction and to establish the need for an unscheduled device interrogation. Conclusions: This case presentation highlights the important role of clinical reasoning and the approach to such a patient, especially when a key method of pacemaker evaluation, such as device interrogation, is not readily available. Full article

Background and Clinical Significance: Acquired myenteric hypoganglionosis is a rare dysmotility disorder that can present in childhood and adulthood, characterized by a reduced number of ganglion cells within Auerbach’s plexus. Due to the rarity of the pathology, few case reports of acquired myenteric hypoganglionosis in adolescents have been described. This case report explores the presentation, risk factors, and surgical complications associated with the ultimate diagnosis of myenteric hypoganglionosis. Case Presentation: We present a case of a 12-year-old male with a history of constipation and achalasia, presenting with constipation and abdominal distention, who underwent a colonoscopy, which was converted to an exploratory laparotomy with loop ileostomy creation due to persistent significant abdominal distention. This was complicated by colonic perforation, most likely secondary to stercoral colitis, requiring takeback to the operating room on postoperative day 11 for an exploratory laparotomy with bowel resection and mucous fistula creation. The patient was then referred to Boston Children’s Hospital for motility studies, which revealed poor colonic motility and plans to reassess motility in 1 year. Conclusions: Although rare, it is important to have high clinical suspicion for acquired myenteric hypoganglionosis in children, especially males, with severe constipation. Full article

Background and clinical significance: Acute reduction in vigilance is a frequent reason for emergency department admissions, especially among the elderly. While intracranial causes or infections with fluid depletion are often responsible, there remain cases where imaging, laboratory tests, and clinical examination fail to provide a clear diagnosis. Case presentation: A 91-year-old woman was presented to the emergency department with recurrent episodes of somnolence to deep coma. On admission, her vital signs were stable, and cerebral CT imaging revealed no intracranial pathology. Laboratory analyses, including blood gas measurements, were unremarkable. Empirical treatment for possible intoxications with benzodiazepines or opioids using flumazenil and naloxone had no effect. An Addison’s crisis was considered but excluded following methylprednisolone administration without improvement in consciousness. Eventually, an isolated elevation of serum ammonia was identified as the cause of the reduced vigilance. Further investigation linked the hyperammonemia to abnormal intestinal bacterial colonization, likely due to a prior ureteroenterostomy. There was no evidence of liver dysfunction, thus classifying the condition as non-hepatic hyperammonemia. Therapy was initiated with rifaximin, supported by aggressive laxative regimens. Ammonia levels and vital parameters were closely monitored. The patient’s condition improved gradually, with serum ammonia levels returning to normal and cognitive function fully restored. Conclusions: This case highlights an uncommon cause of coma due to non-hepatic hyperammonemia in the absence of liver disease, emphasizing the diagnostic challenge when standard evaluations are inconclusive. It underscores the need for broad differential thinking in emergency settings and the importance of considering rare metabolic disturbances as potential causes of altered mental status. Full article

Background and Clinical Significance: A paratubal cyst, which makes up about 10% of all adnexal masses, is a specific type of adnexal cyst that develops from the mesothelium in the broad ligament located between the fallopian tube and the ovary. Interestingly, the majority of paratubal cyst cases are initially misidentified as ovarian cysts, with suspicion arising in only 1 out of every 15 patients before undergoing surgery. Case Presentation: We report a case of a giant paratubal cyst mimicking an ovarian cyst in a 21-year-old woman supported by some representative images along with a literature review. The cyst’s therapeutic management was surgical removal of the adnexa and the final postoperative histopathological diagnosis was that of a benign paratubal cyst. Conclusions: This case highlights the need to include a paratubal cyst in the differential diagnosis of pelvic masses, especially in women of reproductive age. To the best of our knowledge, this represents the largest paratubal cyst reported in the literature to date, based on overall dimensions and the highest recorded volume of aspirated fluid, successfully managed via laparoscopy. A further notable aspect of this case is the coexistence of the giant paratubal cyst with an ovarian mucinous cystadenoma. Full article

Background and Clinical Significance: Prosthetic rehabilitation in the aesthetic zone of periodontally compromised patients presents a complex clinical challenge, requiring a careful coordination of aesthetic, functional, and biological demands. This case highlights the benefits of digital dentistry, interdisciplinary collaboration, and regular maintenance in achieving long-term success in complex rehabilitations of periodontally compromised patients. Case Presentation: This case report describes the digital minimally invasive rehabilitation of a 39-year-old male patient with Stage III periodontitis, occlusal discrepancies, tooth mobility, and an interincisal diastema. A fully digital workflow—including intraoral scanning, aesthetic previewing, and mandibular motion analysis—was employed to guide diagnosis, treatment planning, and prosthetic execution. Conservative tooth preparations using a biologically oriented approach (BOPT) were combined with customised provisional restorations to support soft tissue conditioning and functional control throughout the provisional phases. Mandibular motion tracking facilitated the design of a personalised anterior guidance to improve occlusion and correct the deep bite. The interincisal diastema was initially maintained then closed during the advanced phase of treatment based on aesthetic simulations and patient preference. One unplanned endodontic treatment was required during the provisional phase, but no other complications occurred. Conclusions: At the four-year follow-up, the patient demonstrated stable periodontal and occlusal conditions, improved clinical indices, and high satisfaction with the aesthetic outcome. Full article

Backgoround: The genus Pseudomonas encompasses metabolically versatile bacteria widely distributed in diverse environments, including clinical settings. Among these, Pseudomonas kurunegalensis is a recently described environmental species with limited clinical characterization. Objective and Methods: In this study, we report the genomic and phenotypic characterization of a P. kurunegalensis isolate, Pam1317368, recovered from a catheterized urine sample of a post-renal transplant patient without symptoms of urinary tract infection. Initial identification by MALDI-TOF MS misclassified the isolate as Pseudomonas monteilii. Whole-genome sequencing and average nucleotide identity (ANI) analysis (≥95%) confirmed its identity as P. kurunegalensis. The methodology included genomic DNA extraction, Illumina sequencing, genome assembly, ANI calculation, antimicrobial susceptibility testing, resistance gene identification and phylogenetic analysis. Results: Antimicrobial susceptibility testing revealed multidrug resistance, including carbapenem resistance mediated by the metallo-β-lactamase gene VIM-2. Additional resistance determinants included genes conferring resistance to fluoroquinolones and aminoglycosides. Phylogenetic analysis placed the isolate within the P. kurunegalensis clade, closely related to environmental strains. Conclusions: Although the clinical significance of this finding remains unclear, the presence of clinically relevant resistance genes in an environmental Pseudomonas species isolated from a human sample highlights the value of genomic surveillance and accurate species-level identification in clinical microbiology. Full article

Background and Clinical Significance: Brenner tumors are rare epithelial tumors that can occur in both males and females. They consist of ovarian transition cells surrounded by dense fibrous tissue and can be classified as benign, borderline, or malignant. While most commonly found in the ovary, extraovarian Brenner tumors (EOBTs) have been reported in the uterus, vagina, broad ligament, and omentum. Case Presentation: A 71-year-old postmenopausal woman presented with a polypous formation on the upper third of the posterior vaginal wall, which was found at a routine health check. Macroscopically, the lesion appeared as a solid, polypoid mass with a yellowish-gray cut surface, measuring approximately 25 × 20 mm. Histological examination revealed a polypoid formation covered by stratified squamous epithelium, with a dense fibrous stroma (Van Gieson [VG]+) and tubular structures lined by clear epithelial cells. Parenchymal cells showed low proliferative activity, with Ki-67 expression in less than 5% of cells, also Cytokeratin (CK) 7/+/p63:/+/ CK AE1/AE3: /+/ Estrogen Receptor (ER): /+/ and Progesterone Receptor (PR)/−/; CK20/-/; p53/−/, Wilms’ Tumor (WT)-1/−/; Prostate-Specific Acid Phosphatase (PSAP)/−/. The final diagnosis was an extraovarian Brenner tumor. The patient was monitored for two months post-excision, with no signs of recurrence. Conclusions: EOBTs are extremely rarely seen and vaginal involvement is far less common. Due to their rarity, these tumors may be confused with other benign or malignant vaginal lesions. In order to differentiate EOBTs from other neoplasms, histological analysis is crucial due to their characteristic transitional-type epithelium and large fibrous stroma. Further studies are required to understand the origin and clinical behavior of EOBTs. Long-term monitoring should be performed to look for any recurrence or malignant change, even though benign Brenner tumors usually have a good prognosis. Awareness of EOBTs and their possible locations is essential for accurate diagnosis and appropriate management. Full article

Background and Clinical Significance: Traumatic brain injury (TBI) represents a major public health concern due to its profound neurological, psychological, and socioeconomic consequences. Effective management is essential to optimize patient outcomes and reduce healthcare burden. In cases involving extensive bone loss or complex fractures, particularly when decompressive craniectomy (DC) is considered, secondary cranial reconstruction is typically required. However, DC is associated with prolonged hospitalization, multiple surgical interventions, an increased risk of complications, and higher costs. Case Presentation: We present the case of a 59-year-old male involved in a high-energy bicycle accident, sustaining severe craniofacial trauma with multiple midface fractures, a multifragmented left cranial fracture, and a left-sided epidural hematoma with brain compression. Hematoma evacuation and immediate primary reconstruction of the fractured skull using autologous bone were successfully performed, avoiding the need for DC. The patient recovered under intensive care and was transferred to a neurorehabilitation center. Conclusions: Primary reconstruction of large skull fractures using autologous bone should remain the goal, whenever possible, in order to avoid additional costs, risks, and complications. Full article

Background and Clinical Significance: Non-small-cell lung cancer (NSCLC) with EGFR mutations, particularly de novo compound mutations such as exon 19 deletions (Ex19del) with T790M substitutions, present a significant clinical challenge due to resistance to many treatments. While treating these patients, the administration of osimertinib, a third-generation EGFR inhibitor, after immunotherapy can lead to unique immune-related adverse events (irAEs), such as pneumonitis and, rarely, hepatitis. Case Presentation: A 36-year-old Filipino woman presented with metastatic NSCLC harboring de novo Ex19del and T790M mutations. Despite initial therapy with carboplatin and paclitaxel, followed by chemoimmunotherapy, the patient’s disease progressed. She subsequently developed severe hepatitis from osimertinib after her prior immunotherapy with pembrolizumab. After the hepatitis resolved with high-dose steroids, osimertinib was switched to afatinib, but her disease rapidly progressed with new metastases. A second attempt at osimertinib rechallenge, with concomitant prednisone, resulted in substantial disease control, including improved leptomeningeal disease (LMD) and no recurrence of hepatitis. Conclusions: This case underscores the feasibility of rechallenging with osimertinib in patients who experience adverse events such as hepatotoxicity, provided that appropriate management strategies, such as steroid therapy, are employed. The successful rechallenge in this case highlights the potential of osimertinib as a viable option in advanced EGFR-mutant NSCLC, even after prior treatment-related complications. Full article

Background and Clinical Significance: Fulminant pulmonary embolism (PE) leading to an out-of-hospital cardiac arrest (OHCA) is associated with a high mortality rate and cardiopulmonary resuscitation (CPR) frequently failing to achieve return of spontaneous circulation (ROSC). Extracorporeal CPR (eCPR) has emerged as a potential life-saving intervention. Case Presentation: A 66-year-old woman suffered an OHCA due to massive PE, presenting with pulseless electrical activity (PEA). After 90 min of pre- and in-hospital CPR without sustained ROSC, venoarterial extracorporeal membrane oxygenation (va-ECMO) was initiated as eCPR upon arrival at the hospital. Even after implantation of the va-ECMO, there was initially a pronounced acidosis (pH 6.9) with a high elevated lactate level (>30 mmol/L); these factors, together with the prolonged low-flow period, indicated a poor prognosis. Further diagnostic tests revealed intracranial hemorrhage (subdural hematoma), and systemic lysis was not possible. With persistent right heart failure, surgical thrombectomy was performed during hospitalization. Intensive multidisciplinary management finally led to successful therapy and weaning from mechanical ventilation, as well as to complete neurological recovery (CPC-Score 1-2). Conclusions: This case illustrates that eCPR can facilitate survival with good favorable neurological outcomes despite initially poor prognostic predictors. It underscores the importance of refining patient selection criteria and optimizing management strategies for eCPR in refractory cardiac arrest secondary to PE. Full article

Background and Clinical Significance: Robotic surgery reduces the need for extensive surgical approaches and lowers perioperative complications. In particular, it offers enhanced dexterity, three-dimensional visualization, and improved precision in confined anatomical spaces. Pelvic masses pose significant challenges due to their close relationship with critical neurovascular structures, making traditional open or laparoscopic approaches more invasive and potentially riskier. Robot-assisted resection, combined with intraoperative neurophysiological monitoring, may therefore offer a safe and effective solution for the management of complex pelvic lesions. Case Presentation: An 18-year-old woman was incidentally diagnosed with an 11 cm asymptomatic pelvic mass located anterior to the sacrum. Initial differential diagnoses included neurofibroma, teratoma, and myelolipoma. Histopathological examination confirmed a ganglioneuroma. Following multidisciplinary discussion, the patient underwent a robot-assisted en bloc resection using the Da Vinci Xi multiport system. Preoperative planning was aided by 3D modeling and intraoperative navigation. Conclusions: Surgery lasted 322 min. Preoperative and postoperative eGFR values were 145.2 mL/min and 144.0 mL/min, respectively. The lesion measured 11 cm × 9 cm × 8 cm. The main intraoperative complication was a controlled breach of the iliac vein due to its close adherence to the mass. No major postoperative complications occurred (Clavien-Dindo Grade I). The drain was removed on postoperative day 3, and the bladder catheter on day 2. The patient was discharged on postoperative day 5 without further complications. Presacral ganglioneuromas are rare neoplasms in a surgically complex area. A multidisciplinary approach using robotic-assisted laparoscopy with nerve monitoring enables safe, minimally invasive resection. This strategy may help avoid open surgery and reduce the risk of neurological and vascular injury. Full article

Background and Clinical Significance: Perforation of the left ventricle related to microaxial ventricular assist devices (Impella) is a rare but fatal complication related to placement or adjustment. It results in left ventricular hemorrhage and tamponade, leading to rapid deterioration and death. Case Presentation: We present a case report of a 73-year-old man who developed this complication postoperatively and was successfully managed to a full recovery. Conclusions: To our knowledge, he is the only reported patient to have this complication outside the setting of immediate placement who subsequently survived to discharge. Full article

Background and Clinical Significance: The incidence of persistent ductus arteriosus (PDA) in preterm infants is the highest and depends on their birth weight (BW) and respiratory condition after birth. Previously, after the unsuccessful drug treatment, surgical ligation was the primary treatment option. However, according to clinical studies, the Amplatzer Piccolo Occluder was approved for PDA closure for patients ≥700 g. In our country, percutaneous PDA embolization has not been performed yet. Case Presentation: We present three premature infants with hemodynamically significant patent ductus arteriosus (hsPDA) in whom percutaneous occlusion was performed using the Amplatzer Piccolo Occluder (APO). The average gestational week (GW) was 27 ± 1, while body weight was 1030 ± 60 g. All patients had respiratory deterioration, with dilatation of the left heart chambers, and renal failure. The second developed a severe form of broncho-pulmonary dysplasia. Transthoracic echocardiography (TTE) examinations revealed a hemodynamically significant PDA (LA/Ao 1.8–2.2) and medical closure was unsuccessfully carried out. Due to the hemodynamically significant PDA maintenance in all neonates, transvenous PDA closure was performed using the APO (APO 9-PDAP-04-02-L, 9-PDAP-04-04-L, 9-PDAP-05-054L, respectively). The entire devices, with both retention discs, are implanted within the duct. TTE pointed out adequate device position without descending aorta, left pulmonary artery obstruction, residual shunt, and reverse remodelling of the left ventricle and left atrium. The first newborn was weaned from mechanical ventilation three days after the procedure and discharged three weeks after. The second patient was extubated 2 weeks after the procedure, and even the severe BPD, X-ray showed improvement. The third patient’s renal failure completely resolved, weaned from inotropic drug support and mechanical ventilation. Conclusions: Due to a significantly lower complication rate than surgical ligation, we will strive to make percutaneous PDA occlusion a new standard for treatment in newborns, especially preterm newborns, in our country. Full article

Background and Clinical Significance: The mesenchymal–epithelial transition (MET) exon 14 skipping mutation (METex14) is a rare genetic alteration occurring in non-small cell lung cancer (NSCLC). Tyrosine kinase inhibitors (TKIs) are the approved treatment for first-line therapy in a metastatic setting. However, the unusual presentation of gastrointestinal metastasis and leptomeningeal carcinomatosis (LMD) poses significant treatment challenges. Case Presentation: Here we report a case of a 72-year-old male with metastatic METex14-positive NSCLC, presenting with brain and duodenal metastases. Conclusions: The patient responded exceptionally well to first-line chemoimmunotherapy, achieving clinically complete remission for 2 years. He subsequently developed cerebellar metastasis and leptomeningeal disease (LMD) but demonstrated a remarkable response to tepotinib and continued to enjoy radiographic complete remission over 2.5 years at the time of this report. Full article

Background and Clinical Significance: Diabetic ketoacidosis (DKA) is a serious and potentially life-threatening condition, often triggered by infections or undiagnosed diabetes. Spontaneous pneumomediastinum (SPM) and pneumothorax are rare but recognized complications of DKA, possibly due to alveolar rupture from increased respiratory effort or vomiting. Sometimes, acute pancreatitis (AP) may further complicate DKA, but the co-occurrence of these three conditions remains exceptionally rare. Case Presentation: We describe the case of a 60-year-old woman without a known history of diabetes who arrived at the emergency department with abdominal pain, fatigue, vomiting, and altered mental status. Initial laboratory findings showed metabolic acidosis, hyperglycemia, and elevated anion gap, consistent with DKA. Imaging revealed spontaneous pneumomediastinum and subsequently a left-sided pneumothorax, without evidence of trauma or esophageal rupture. Epigastric pain, along with elevated serum lipase and CT findings, also confirmed acute pancreatitis. Despite the complexity of her condition, the patient responded well to supportive treatment, including oxygen therapy, fluid resuscitation, insulin infusion, and antibiotics. She was discharged in good condition after 28 days, with a confirmed diagnosis of type 2 diabetes, without further complications. Conclusions: This case highlights an unusual combination of DKA complicated by spontaneous pneumomediastinum, pneumothorax and acute pancreatitis in a previously undiagnosed diabetic patient. Because prompt intervention can lead to favorable outcomes even in complex, multisystem cases, early recognition of atypical DKA complications is critical in order to avoid misdiagnosis. Full article