Reports, Volume 8, Issue 2 (June 2025) – 42 articles

Background and Clinical Significance: Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder caused by mutations in the CYP27A1 gene, leading to impaired bile acid synthesis and systemic cholesterol deposition. The condition presents with a broad spectrum of symptoms affecting multiple organs and systems, including the eyes, central nervous system, tendons, and skeletal muscles. Due to its heterogeneous and often ambiguous clinical manifestations, CTX is frequently misdiagnosed or remains undiagnosed for years. Case Presentation: We report the case of a 37-year-old male who was admitted to our university hospital with a long-standing history of progressive muscle weakness in the arms and legs. His medical history revealed bilateral cataract surgery in childhood, cognitive decline, epilepsy, and bilateral round swellings of the Achilles tendons, suspected to be xanthomas. A clinical diagnosis of CTX was established, and sequencing analysis confirmed the presence of a homozygous pathogenic variant in the CYP27A1 gene. Despite the unavailability of chenodeoxycholic acid (CDCA) therapy in Bulgaria, symptomatic management was provided. Conclusions: This case underscores the diagnostic challenges associated with CTX and highlights the prolonged diagnostic journey faced by patients with rare neurogenetic disorders. It also emphasizes the need for increased awareness and early recognition of such conditions to improve patient outcomes. Full article

Background and Clinical significance: Apical fenestration is a rarely reported clinical finding that may be associated with apical periodontitis. However, its diagnosis can often be complicated by overlapping clinical and radiographic features. While management traditionally involves a combination of endodontic and surgical interventions, there is limited documentation regarding successful outcomes achieved through non-surgical treatment alone. Therefore, further reporting and investigation of such cases are warranted to enhance clinical understanding and inform decision-making. Case Presentation: This case report describes the non-surgical management of a 20-year-old patient presenting with symptomatic apical periodontitis and a labial apical fenestration in a previously treated maxillary left central incisor (tooth #21) exhibiting an open apex. Diagnosis was confirmed using cone-beam computed tomography (CBCT), which revealed a bone defect in the facial cortical plate. The treatment protocol involved conservative canal debridement, intracanal placement of calcium hydroxide, and final obturation using an apical plug of calcium silicate-based hydraulic cement (CSBHC) and the monoblock technique. Over a follow-up period of two years and eight months, clinical and radiographic assessments demonstrated resolution of symptoms, healing of the sinus tract, and complete regeneration of the buccal cortical bone. Conclusions: This case highlights the potential for complete healing of apical fenestration associated with apical periodontitis in an open apex tooth through non-surgical endodontic treatment alone. Full article

Background and Clinical Significance: Twin pregnancies are associated with an increased risk of congenital malformations. One of them is rare but lethal—acrania—which belongs to the group of neural tube defects. The pathogenesis of acrania is not fully understood. It is presumed that the underlying mechanism of its development is a disorder of migration of mesenchymal tissue. The presence of an acrania in one of the twins may lead to complications such as polyhydramnios, preterm labor, or, in severe cases, an intrauterine death in one or both twins. Case Presentation: A 30-year-old woman (G4P4) was admitted to the Labor Department of a tertiary hospital in 30+3 weeks due to preterm labor. The patient was in a dichorionic diamniotic twin pregnancy with a single lethal fetal anomaly and severe polyhydramnios of a second twin. Hence, the caesarean section was immediately performed. Both twins were admitted to the Neonatology Department. The healthy neonate was hospitalized and discharged after 42 days in good condition. Palliative care for the twin with acrania was provided. Conclusions: Early detection of acrania in twin pregnancies is critical. It allows the implementation of appropriate management and targeted counseling, thereby minimizing the risk of complications both for unaffected twins and the mothers. Our case is a good model of action where a twin pregnancy with a diagnosed lethal defect in an ambulatory setting was managed, providing holistic specialized care. Full article

Background and Clinical Significance: The coexistence of spinal hemangiomas and dural arteriovenous fistula (SDAVF) is uncommon. Unclear imaging and progressive neurological impairment require early surgical management. Case Presentation: A 76-year-old woman presented with progressive thoracolumbar pain and worsening bladder dysfunction. Magnetic resonance imaging (MRI) of the thoracic spine revealed a round-shape expansive lesion at T11 with spinal cord edema and homogeneous contrast enhancement. Despite a chronic presentation, the subacute progression of bladder dysfunction and spinal cord edema warranted timely intervention. Intraoperatively, a vascular malformation resembling a dural arteriovenous fistula (SDAVF), unrecognized at pre-operative imaging, was found in association, and histological examination confirmed the diagnosis of hemangioma. The mechanism of coexistence remains unclear, although venous hypertension due to fistula could induce vascular malformations. Conclusions: This case emphasizes the importance of thorough imaging, timely intervention and intraoperative assessment in patients presenting with a suspicion of spinal hemangioma; it may also provide awareness of potentially associated concurrent lesions such as SDAVFs, unrecognized at pre-operative imaging, and technical insights during surgery. Full article

Background: Idiopathic duodenal hematoma is a rare clinical condition, typically associated with trauma, anticoagulation therapy, gastrointestinal procedures, or coagulopathies. We present a unique case of spontaneous duodenal hematoma in a patient without identifiable risk factors. Case presentation: We present the case of a 60-year-old Asian woman who presented to the emergency room (ER) with a 10-day history of progressive abdominal pain, early satiety, nausea, and vomiting. She had no history of trauma, anticoagulant use, or underlying predisposing conditions. On clinical evaluation, she was hemodynamically stable, and the initial laboratory results were unremarkable except for signs of dehydration and inflammation. A computed tomography (CT) scan revealed a heterogeneous lesion in the second portion of the duodenum, initially raising suspicion of a duodenal tumor. Further evaluation with magnetic resonance imaging (MRI) confirmed a duodenal hematoma with compression of the adjacent pancreas. Management and Outcome: The patient was managed conservatively with bowel rest, nasogastric decompression, intravenous (IV) fluid, and a proton pump inhibitor (PPI). Serial imaging demonstrated gradual hematoma resolution, with progressive improvement in her symptoms. She was discharged in stable condition and returned to normal activity after three weeks with complete hematoma resolution as seen on follow-up imaging. Conclusions: This case highlights the importance of considering spontaneous hematoma in the differential diagnosis of abdominal pain, even without risk factors. Early diagnosis and conservative treatment remain the mainstay of management and can lead to full recovery in uncomplicated cases. Full article

Background and Clinical Significance: Scimitar Syndrome is a rare congenital cardiopulmonary anomaly characterized by partial anomalous pulmonary venous return, often requiring early surgical correction. It may coexist with other congenital or acquired cardiovascular anomalies, including valvular diseases such as mitral regurgitation. When surgical correction of Scimitar Syndrome is combined with mitral valve annuloplasty, the proximity to the atrioventricular node may potentially predispose patients to late-onset conduction disturbances, although causality remains speculative. Case Presentation: We describe the case of a 53-year-old male who developed paroxysmal atrial fibrillation, atrial flutter, and intermittent second-degree AV block decades after undergoing surgical correction of Scimitar Syndrome with concomitant mitral annuloplasty. Multimodal echocardiographic evaluation revealed preserved left atrial volume, normal intra-atrial conduction time, mildly reduced strain, and maintained atrial synchrony. The patient was treated with direct oral anticoagulants and beta-blockers and underwent the implantation of a ventricular leadless pacemaker. Conclusions: This case highlights the supportive role of atrial function imaging in assessing atrial health and informing rhythm management and procedural choices in surgically corrected congenital heart disease. Full article

Background and Clinical Significance: Uterine fibroids affect up to 25% of women of reproductive age and can lead to significant symptoms or impact fertility, often requiring surgical management. While hysteroscopic myomectomy is suitable for intracavitary fibroids, intramural and subserosal fibroids typically necessitate open or minimally invasive surgery (MIS). Laparoscopic approaches offer notable advantages, including reduced postoperative pain and faster recovery. However, MIS is frequently avoided in cases of very large fibroids due to technical difficulty and concerns about safe tissue extraction. Power morcellation, previously used for specimen removal, has fallen out of favor due to the risk of disseminating occult malignancies, especially in women over 35. Therefore, establishing the feasibility of MIS without morcellation in such cases is essential. Case Presentation: A woman of reproductive age presented with a symptomatic uterine fibroid measuring approximately 4 kg (1500 cm³). Laparoscopic myomectomy was performed using a modified trocar entry technique and contained tissue fragmentation, avoiding morcellation. The operation was completed successfully without complications. Postoperative recovery was uneventful, and the patient was discharged on postoperative day two. Histopathological examination confirmed a benign leiomyoma. Conclusions: This case highlights the feasibility of laparoscopic removal of an exceptionally large uterine fibroid without morcellation. Through careful patient selection, strategic trocar placement, and controlled tissue fragmentation, MIS can be safely performed in select high-volume cases. These findings support reconsidering the size limitations of laparoscopic myomectomy when conducted by experienced surgeons using appropriate techniques. Full article

Background and clinical significance: Polymorphous adenocarcinoma of the oral cavity is predominantly located in the palate. It is characterized by a slow rate of growth and thus may be misdiagnosed as a benign tumor. Its histology is intricate with other salivary malignancies, thus necessitating specific immunohistochemical stains. Our case report illustrates an adenocarcinoma localized in the palate of a 61-year-old female patient. Case presentation: The patient came to the postgraduate clinic of Oral Medicine and Pathology, Department of Oral Medicine and Pathology, School of Dentistry, Faculty of Health Sciences, Aristotle University of Thessaloniki, Greece and provided written informed consent for the subsequent examination. The patient complained about the presence of a mass on the palate, which was otherwise asymptomatic, without being able to pinpoint when the tumor initially emerged. The lesion was biopsied and the histology suggested the immunophenotype p63+/p40- which constitutes an important diagnostic clue for polymorphous adenocarcinoma. The patient was referred to the Department of Oral and Maxillofacial Surgery. Conclusions: The standard therapeutic approach primarily involves surgical excision. The goal is to achieve optimal patient outcome while minimizing unnecessary morbidity. As surgical techniques and understanding of the disease continue to advance, it is crucial for healthcare providers to stay informed and integrate these developments into practice to improve treatment outcomes for patients. Full article

Background and Clinical Significance: Pancreatic cancer was the third leading cause of cancer-related mortality in the United States in 2020 after lung and colorectal cancers. The prevalence of pancreatic cancer has been increasing and is projected to continue rising through 2040, with an estimated 355,317 additional cases expected. We present the case of an 81-year-old patient with metastatic pancreatic ductal adenocarcinoma (PDAC) who tolerated NALIRIFOX for a year with grade 1 adverse events. Case presentation: An 81-year-old Asian male presented with abdominal pain associated with weight loss and fatigue. An abdominal computed tomography (CT) scan showed a mass in the body of the pancreas measuring 3.5 cm with an infiltrative appearance invading the retroperitoneum and encasing the splenic artery. A biopsy confirmed poorly differentiated PDAC. The patient received 13 cycles of NALIRIFOX in a palliative setting over the course of one year, demonstrating excellent tolerance aside from minor toxicities, including worsening of pre-existing macrocytic anemia, treatment-related grade 1 neuropathy, diarrhea, and thrombocytopenia. A subsequent CT scan revealed disease progression, and the patient was switched to second-line therapy. However, per his preference, the patient was referred to hospice care and passed away a few days later. Conclusions: This case highlights the excellent tolerability of NALIRIFOX in an elderly patient, with minimal adverse events observed, which is uncommon among similar patient populations. Full article

Background and Clinical Significance: Pylephlebitis is a suppurative thrombophlebitis of porto-mesenteric veins. It is a rare complication of intraabdominal infection or inflammation. Case Presentation: A 46-year-old female patient presented to the Emergency Department (ED) with a three-day history of subfebrile body temperature (37.5 °C) and dull pain in the right lower abdominal quadrant propagating to the left lower quadrant, with frequent bowel movements and liquid stool consistency. Inflammatory markers were elevated. Following transabdominal ultrasound, possible diagnoses were inflammatory changes of the appendix or sigmoid colon. She was given oral antibiotics and discharged home with a surgical follow-up the next morning. The next day, due to the worsening of the symptoms, surgery was performed with no additional imaging studies. Intraoperative findings were diverticulitis of the sigmoid colon with perforation and peritoneal inflammation, and primary anastomosis with a diverting ileosotomy was performed. The patient was discharged from the hospital after seven days with completed antibiotic treatment. Twelve days later, the patient presented to the ED with a two-day fever (38 °C), elevated inflammatory markers and imaging findings consistent with pylephlebitis: complete left portal vein thrombosis, partial thrombosis of the segmental branch of the right portal vein and thrombosis of the inferior mesenteric vein. The administration of anticoagulants and antibiotics started and after nine days she was discharged home. Conclusions: Timely treatment is a necessity in patients with diverticulitis to prevent complications. Furthermore, clinicians and radiologists should be familiar with vascular complications of diverticulitis because their detection and the following treatment can prevent more extensive disease. Full article

Background and Clinical Significance: Rectal angiosarcoma is an exceptionally rare and aggressive malignancy, comprising less than 1% of soft tissue sarcomas. This case highlights the diagnostic and therapeutic challenges posed by this disease, and the lack of established guidelines emphasizing the importance of a multidisciplinary approach. Case Presentation: A 41-year-old male firefighter, with a history of heavy smoking, presented with lower abdominal pain, rectal bleeding, and urgency. Imaging and biopsy confirmed rectal angiosarcoma, stage IIIB. The patient underwent IMRT/VMAT radiation therapy followed by laparoscopic rectal amputation with colostomy. No sign of recurrence or metastatic disease was present on follow-up imaging. Conclusions: This case underlines the importance of a personalized treatment strategy and multidisciplinary collaboration in rare malignancies. Early diagnosis and cooperation across specialties are critical for achieving the best possible outcomes. Full article

Background and Clinical Significance: Acute pediatric rhinosinusitis is most commonly caused by Streptococcus pneumoniae, Haemophilus influenzae, and Moraxella catarrhalis. The involvement of Enterobacter species is rare and typically linked to chronic or nosocomial infections. Typical cases of acute rhinosinusitis in children present with abundant nasal discharge, headache, and fever and are generally managed with systemic antibiotics, nonsteroidal anti-inflammatory drugs (NSAIDs), mucolytics, and topical intranasal treatment. Atypical presentations prompt heightened clinical attention, and depending on the symptoms and patient status, surgical interventions might be considered. Case Presentation: We report the case of a previously healthy 5-year-old boy presenting with painful unilateral palpebral edema, minimal ipsilateral nasal discharge, and persistent headache despite standard rhinosinusitis therapy. Imaging tests revealed complete right maxillary sinus opacification. As the clinical response to ceftriaxone and dexamethasone was minimal, we opted for endoscopic sinus surgery. A nasal swab culture identified Enterobacter spp. in the nasal discharge. Conclusions: Unusual pathogens like Enterobacter spp. can cause acute sinusitis in children without prior risk factors. Early surgical intervention and culture-adjusted antimicrobial therapy remain critical for favorable outcomes. Full article

Background and clinical significance: Osteonecrosis of the femoral head (ONFH) is a disease of the epiphysis caused by the death of osteocytes and osteoblasts, resulting in debilitating pain. ONFH can be traumatic or nontraumatic, with prolonged glucocorticoid use being the leading cause of nontraumatic ONFH. Atopic dermatitis (AD) is a chronic inflammatory skin condition typically treated with topical corticosteroids. ONFH following topical corticosteroid treatment is exceedingly rare, with limited documentation in the literature. We present a case of an under-recognized complication of prolonged topical corticosteroid treatment. Case presentation: We report a case of a 29-year-old Caucasian male patient with sharp right hip pain. Plain radiographs, a CT scan, and an MRI indicated Ficat and Arlet stage 3 ONFH. The patient reported the prolonged uncontrolled use of topical mometasone furoate for five years due to AD. Following the diagnosis, topical corticosteroids were discontinued, and the treatment was shifted to tacrolimus and, subsequently, to oral methotrexate with folic acid. The patient underwent a total hip arthroplasty in June 2022. Given his young age and poor response to previous treatments, he was transitioned to upadacitinib, which led to significant improvement without skin flare-ups or postoperative hip pain. Conclusions: This case highlights the rare, but serious, risk of ONFH associated with long-term topical corticosteroid use. It underscores the importance of monitoring systemic side effects in dermatological therapies and educating patients on proper corticosteroid use. Alternative treatments, such as upadacitinib, should be considered in young male patients to prevent severe complications. Full article

The evolution of regional anesthesia in total hip arthroplasty (THA) has significantly impacted perioperative management, particularly in older adults, where age-related physiological vulnerability requires optimized strategies. Adequate pain control is crucial in enhancing recovery, minimizing opioid consumption, and reducing complications. Traditional nerve blocks such as lumbar plexus and femoral nerve blocks have long been the mainstay of analgesia. However, they are associated with significant motor impairments, which delay mobilization and increase the fall risks. Introducing motor-sparing regional anesthesia techniques represents a substantial advancement in optimizing postoperative pain management while preserving muscle function. Motor-sparing techniques, including the pericapsular nerve group (PENG) block, supra-inguinal fascia iliaca block (SI-FIB), erector spinae plane block (ESPB), and quadratus lumborum block (QLB), have been developed to provide adequate analgesia without compromising motor control. The PENG block selectively targets the articular branches of the femoral, obturator, and accessory obturator nerves, ensuring superior pain relief while minimizing quadriceps weakness. Similarly, the SI-FIB provides extensive sensory blockade with minimal motor involvement, allowing for earlier ambulation. The ESPB and QLB extend analgesia beyond the hip region while preserving motor function, reducing opioid consumption, and facilitating early rehabilitation. Compared to traditional motor-impairing blocks, these newer techniques align with Enhanced Recovery After Surgery (ERAS) protocols by promoting early mobility and reducing the hospital length of stay. Studies suggest that motor-sparing blocks lead to improved functional recovery, lower postoperative pain scores, and decreased opioid requirements, which are critical factors in geriatric THA patients. Moreover, these techniques present a safer alternative, reducing the risk of postoperative falls—a significant concern in elderly patients undergoing hip replacement. Despite their advantages, motor-sparing nerve blocks are still evolving, and further research is necessary to standardize the protocols, optimize the dosing strategies, and evaluate the long-term functional benefits. Integrating these techniques into routine perioperative care may significantly enhance patient outcomes and revolutionize pain management in geriatric THA. As regional anesthesia advances, motor-sparing techniques will improve postoperative recovery, ensuring patient safety and functional independence. Full article

Background and Clinical Significance: Breast cancer-related lymphedema (BCRL) is a chronic condition affecting up to 20% of breast cancer survivors. Manual lymphatic drainage (MLD) has traditionally included techniques to redirect lymph flow toward alternative pathways when axillary drainage is impaired. However, emerging imaging techniques suggest that most lymph continues to drain toward the ipsilateral axilla, and this has led to the widespread uptake of treatment protocols that exclude traditional redirecting movements, even in cases where personalized imaging is unavailable. Case Presentation: This case report describes a woman with BCRL affecting the right arm and hand who underwent 3 years of conservative lymphedema therapy, including MLD and self-massage techniques that incorporated traditional redirection strategies. Pre-operative indocyanine green (ICG) lymphography, performed after prolonged conservative treatment, confirmed the presence of an open alternative drainage pathway bypassing the axilla and demonstrated dermal flow along the redirected pathways towards a previously described “radial” pathway. These findings suggest that targeted manual therapy may have reinforced or optimized this compensatory route. Conclusions: This case highlights the potential risk of relying on a single form of assessment and generalized cohort imaging studies to guide individualized MLD protocols. In the absence of personal imaging, prematurely abandoning traditional redirection techniques may limit opportunities to establish functional alternative pathways, particularly in early edema in patients who have this anatomical variation. ICG lymphography provides valuable insight into compensatory lymphatic drainage. However, until imaging protocols are standardized and individual imaging is widely accessible, retaining traditional MLD techniques for newly diagnosed BCRL may be crucial for optimizing treatment outcomes. Future research should explore the long-term impact of manual therapy on alternative pathway development and function. Full article

Background and Clinical Significance: Pellagra is caused by a chronic deficiency of niacin (vitamin B3 or nicotinic acid): it is rare in developed countries, where the major risk factors are chronic alcoholism and intestinal malabsorption. Although it typically presents three main symptoms, dermatitis, diarrhea, and dementia, some cases do not show these classic symptoms. Case Presentation: We report a case of a malnourished patient with seizure and multiple cerebrovascular foci, in whom a postmortem autopsy revealed the findings of pellagra. The patient had atypical symptoms of seizure as pellagra and the multiple cerebrovascular lesions, which made the diagnosis difficult. Conclusions: The aim of this paper is to recognize the importance of suspecting pellagra as a treatable disease, especially when patients with eating disorder present atypical symptoms. Full article

Background: The Amazon region possesses vast natural and anthropogenic ecosystems within a hydroclimatic environment conducive to the proliferation of arboviruses associated with infectious diseases in the human population, notably dengue fever, which poses a recurrent and significant public health challenge. Objective and Methods: We wished to update the dengue mapping for the state of Pará (eastern Amazon) using municipality-level secondary data between 2010 and 2024, including epidemiological information. Furthermore, the seasonal effects of soil and atmospheric meteorological variables (ERA5 reanalysis) on the annual municipal incidence of dengue were statistically analyzed through correlation and cluster-based regression methods. Results: Dengue mapping identified key areas over the central, southwest, and southeast parts of Pará, with eleven municipalities exhibiting extreme dengue counts exceeding 300 cases per 100,000 inhabitants. The epidemiological profile in these cities with worsening transmission showed a higher incidence in adults aged 20–39 years old (39%) and a predominance among women (54%). The majority of dengue cases occur during the rainy season (January to May), accounting for 69% of annual cases, when the climate conditions maximize vector proliferation. The statistical analyses highlighted the significant and spatially heterogeneous influence of regional climate variables on the dengue transmission cycle. Conclusions: This study advances our understanding of climatic drivers of dengue in the Amazon and provides relevant evidence to support region-specific surveillance and control strategies. Full article

Background and Clinical Significance: Colorectal cancer (CRC) remains a global health challenge with significant postoperative complications and functional declines. Telerehabilitation offers an accessible alternative to improve preoperative physical condition and postoperative recovery. Case Presentation: Five CRC patients scheduled for laparoscopic surgery participated in an asynchronous telerehabilitation multimodal program, including two weeks of prehabilitation and four weeks of postoperative rehabilitation. Delivered via a digital platform with remote physiotherapist support, the intervention improved functional capacity and muscle strength preoperatively, with partial recovery noted post-surgery. Conclusions: Integrating telerehabilitation into the CRC surgical pathway is feasible and may enhance functional outcomes and quality of life. Further studies are required to confirm these preliminary findings. Full article

Background: The use of regorafenib and 5-fluorouracil in the management of refractory metastatic colorectal cancer has gained increasing attention due to their demonstrated efficacy in extending the survival of patients with colorectal cancer. This study aims to discuss the effect of using regorafenib and 5-fluorouracil combination therapy in refractory metastatic colorectal cancer patients. Case Presentation: We present a case report of a 68-year-old female patient with KRAS G12D and PIK3CA mutations who was diagnosed with stage IV-C colon cancer. She was referred to hospice care and subsequently received therapeutic intervention with 56 cycles of regorafenib and 5-fluorouracil for 31 months while maintaining stable disease (SD). The patient exhibited good tolerance with minimal adverse effects, including Grade I-II Hand–Foot Syndrome. Conclusions: Our case showed the feasibility of using Regorafenib and 5-fluorouracil combination therapy in stage IV refractory metastatic colorectal cancer treatment, which resulted in an improvement in the overall survival after she was referred to Hospice care. Utilizing this case report may provide valuable input in managing refractory metastatic colorectal cancer, given the prolonged survival and the clinical meaningfulness of this regimen in our patient. Full article

Background and Clinical Significance: Undifferentiated pleomorphic sarcoma (UPS) is a highly malignant soft tissue tumor formerly known as malignant fibrous histiocytoma. In the fifth edition of the WHO classification (2020), UPS is classified as an undifferentiated/unclassifiable sarcoma diagnosed via exclusion. While UPS commonly occurs in the extremities, its incidence in the head and neck region is rare (3%), with only a few reported cases in the oropharynx. Surgical resection is the primary treatment; however, tumors at the tongue base pose significant challenges due to the complex anatomy and the presence of critical neurovascular structures. This case highlights a rare instance of tongue-base UPS successfully treated with transoral videolaryngoscopic surgery (TOVS), demonstrating its feasibility as a minimally invasive approach. Case Presentation: A 68-year-old male presented with pharyngeal discomfort, dysphagia, and nocturnal dyspnea. Clinical examination revealed a pedunculated tumor originating from the left tongue base, occupying the pharyngeal cavity. Imaging studies showed a 5 cm mass without lymph node metastasis. A biopsy confirmed UPS (cT3N0M0). Given the tumor’s characteristics, TOVS was performed using an FK-WO TORS laryngo-pharyngoscope retractor. The tumor was resected with a ≥10 mm margin, achieving complete histological resection. The patient’s dyspnea resolved immediately, and oral intake resumed the next day. No adjuvant radiotherapy was administered, and no recurrence was observed for 50 months. Conclusions: This is the first reported case of UPS of the tongue base successfully resected using TOVS. This minimally invasive approach provides a safe and effective alternative for managing oropharyngeal UPS. Full article

Background: Joubert syndrome (OMIM #213300) is a rare predominantly autosomal recessive inherited condition characterized by the classic cerebellar vermis hypoplasia and brainstem anomalies (also known as the “molar tooth sign”), hypotonia, and developmental delays. Joubert syndrome is a ciliopathy that affects multiple systems including the central nervous system, eyes, kidneys, liver, respiratory, musculoskeletal system, cardiovascular system, and endocrine system. Endocrine abnormalities are not uncommon in Joubert syndrome, such as growth hormone deficiency, thyroid hormone deficiency, central diabetes insipidus, hypopituitarism, micropenis, and obesity. However, a new-onset type 1 diabetes in childhood is not common in Joubert syndrome. Case: Herein, we report a case of a 7-year-old male with a history of Joubert syndrome presenting with polydipsia, polyuria, weight loss, and hyperglycemia who was diagnosed with type 1 diabetes. Conclusions: While diabetes has been reported as a rare complication in Joubert syndrome, this is the first case report of Joubert syndrome to accentuate new-onset type 1 diabetes as an endocrine complication. Full article

Background and Clinical Significance: Polycystic kidney disease (PKD) is the most common inherited kidney condition, affecting approximately 500,000 individuals in the US. It causes fluid-filled cysts to develop throughout the kidneys, leading to decreased kidney function. Autosomal dominant polycystic kidney disease (ADPKD) is the more prevalent form, subdivided into the PKD1 and PKD2 variants. PKD1 variants typically result in more severe symptoms and an earlier need for dialysis compared to PKD2. A prenatal diagnosis of ADPKD is rare due to its late-onset manifestations, but early detection can be crucial for management and family counseling. Case Presentation: A 24-year-old woman, during her first pregnancy, presented for her first prenatal ultrasound at 22 + 2 weeks gestation. The ultrasound revealed an increased echogenicity of the renal parenchyma in the left kidney, with pelvic dystopia, while the right kidney appeared normal. Follow-up scans showed significant progression, with both kidneys exhibiting thinning parenchyma and cyst formation. The baby was delivered via an elective cesarean section at 38 weeks, and a postnatal ultrasound confirmed ADPKD. Genetic testing identified a heterozygous variant of the PKD1 gene, NM_001009944.3 (PKD1):c.9157G>A p.(Ala3053Thr), classified as likely pathogenic. The baby displayed electrolyte abnormalities but improved after a week of hospitalization. Conclusions: This case highlights an unusual early presentation of ADPKD in a fetus with no family history of the disease. A prenatal diagnosis through ultrasounds and genetic testing can aid in early detection and management, providing valuable information for family counseling. Regular monitoring and genetic identification are essential for managing ADPKD and improving patient outcomes. Full article

Background and Clinical Significance: The pathogenesis of ischemic lesions in tubercular meningoencephalitis remains unclear, as do the best therapeutic strategies during the acute phase and for secondary prevention. Case Presentation: We report on an atypical case of tubercular meningoencephalitis with a concomitant ischemic stroke. The infectious origin of the ischemic lesion was hypothesized due to a discrepancy between clinical and radiological findings. The patient underwent neuroimaging, blood tests, and a lumbar puncture to diagnose tubercular meningoencephalitis. She subsequently started on antitubercular therapy. Despite the initiation of treatment, her neurological condition worsened. A computed tomography revealed hydrocephalus, leading to the placement of an external ventricular shunt. This intervention resulted in a reduction in ventricular size and an overall improvement in her clinical condition. To reduce the risk of death, secondary prophylaxis with cardioaspirin was added to her treatment regimen. Conclusions: This report highlights the diagnostic and therapeutic challenges encountered in managing patients with tubercular meningitis presenting with concomitant ischemic stroke. By elucidating the complexities of this clinical scenario, we emphasize the importance of early recognition, comprehensive evaluation, and multidisciplinary management to optimize patient outcomes. Full article

Background and Clinical Significance: Cavum septum pellucidum (CSP) and cavum vergae (CV) are anatomical variations that may persist into childhood, adolescence, or adulthood. When these cavities become abnormally large, they are classified as cysts. The mechanism leading to expansion is poorly understood. Although rare, symptomatic CSP and CV cysts can present with a wide range of clinical manifestations. Case Presentation: A 20-year-old Caucasian male presented with progressively worsening symptoms over several months including persistent headaches and dizziness. Neurological evaluation showed no abnormalities, with intact cranial nerve function, normal muscle strength, and no signs of paresis. Imaging identified CSP and CV cysts causing obstructive hydrocephalus. MRI findings confirmed progressive cyst enlargement and obstruction of intraventricular foramen. The patient underwent neuroendoscopic fenestration of the cyst with resolution of both hydrocephalus and the symptoms. A CT and MRI scan of the brain performed 12 years before revealed a developmental variant, showing no evidence of cyst formation or ventricular enlargement and without hydrocephalus at that time. This case provides a rare opportunity to observe cyst growth dynamics over time. Conclusions: This case presents the importance of recognizing symptomatic CSP and CV cysts as rare but significant causes of obstructive hydrocephalus. The progression from a developmental variant to cyst formation over time illustrates the value of long-term imaging follow-up in such cases. Neuroendoscopic fenestration provided complete resolution of symptoms, demonstrating the effectiveness of surgical intervention in such cases. Full article

Background and Clinical Significance: Neonatal hemochromatosis is a rare iron overload disorder that causes severe liver injury in newborns, typically with extrahepatic siderosis. Diagnosis of neonatal hemochromatosis is usually confirmed through a biopsy and MRI, demonstrating deposition of iron and liver failure. However, in severe patients who are not able to undergo biopsy, the diagnostic and management method remains unknown. Case Presentation: We present an unusual case of neonatal hemochromatosis without extrahepatic iron deposition in a 9-day-old male who showed signs of liver failure and respiratory distress. This case suggests that when the risks of biopsy outweigh its benefits, a diagnosis may be reached based on clinical evaluation and MRI findings. Early high-dose intravenous immunoglobulin therapy improved liver function and led to recovery, highlighting the need for early therapeutic intervention in neonatal hemochromatosis. Conclusions: This case highlights that the absence of extrahepatic siderosis cannot exclude a diagnosis of neonatal hemochromatosis, and high doses of IVIG should be administered promptly when neonatal hemochromatosis is suspected to maximize therapeutic effectiveness. Full article

Background and Clinical Significance: Large extensive intraoral dental swelling is uncommon in adults, and we report a rare case of large exophytic oral granulomatous tissue. A complete explanation of diagnostic steps and surgical treatments is addressed, as well as a thorough review of the literature, and a discussion of this interesting case is provided to underline the need for recognition of these vascular pyogenic proliferative lesions and discuss proper management based on the underlying cause. Case Presentation: A 21-year-old Afghan female patient who presented with an extensive intraoral pale red, friable lesion that bled easily. It was 15 × 15 mm in size related to the lower second molar, and interfered with occlusion and extended to cover the buccal and lingual surfaces of adjacent teeth. Conclusions: The presentation of this rare large reactive vascular proliferative condition of oral posterior gingiva, contribute to a better understanding and the growing body of evidence on the PG. The findings emphasize the importance of early intervention tailored to the patient’s age, lesion location, and underlying causes and patient education to prevent extensive dental tissue destruction. Full article

Background and Clinical Significance: Evaluations of interventions for sexual orientation obsessive–compulsive disorder (SO-OCD) are rare. This study therefore evaluated the effectiveness of cognitive analytic therapy (CAT). Case Presentation: A 28-year-old heterosexual male presented with SO-OCD in the form of obsessions concerning his sexual identity and associated avoidance and reassurance-seeking compulsions. The evaluation was a quasi-experiential A/B single-case experimental design (SCED) with follow-up of the eight-session CAT intervention. The SCED had three phases: baseline ‘A’ (two sessions; 21 days), active treatment ‘B’ (six sessions; 56 days) and follow-up (one session; 44 days). There were seven daily rated idiographic outcome measures (intrusion count as the control, a compulsion count and then intensity measures of checking, worrying, generating evidence, shame and anxiety). Four nomothetic outcome measures (including a primary outcome measure of SO-OCD) were collected at assessment, end of treatment and follow-up. Generalised logistical models were fitted to the idiographic outcomes. Six of the seven idiographic measures responded to treatment, indicating an effective intervention. Idiographic change was non-linear and synchronised with specific psychotherapeutic actions and there was no evidence of relapse. There was a clinically significant and reliable pre–post reduction in SO-OCD with progress sustained over the follow-up period. Conclusions: Overall, the study indicates that CAT was an effective intervention for the SO-OCD. The study methodology is critiqued and guidance on SO-OCD treatment is provided. Full article

Background and Clinical Significance: The occurrence of cerebral venous sinus thrombosis (CVST), both with or without thrombocytopenia, following COVID-19 vaccination, is well documented and more common in recipients of vector vaccines. Cases of CVST following immunization with the COVID-19 messenger RNA (mRNA) vaccine are rare; most of these cases occur within 28 days of the first dose of the vaccine. Case Presentation: We present the case of a 38-year-old male with a history of two episodes of deep vein thrombosis in the lower limbs, but without a specific thrombophilic condition, who developed CVST 13 days after the second dose of the Pfizer/BioNTech BNT162b2 vaccine. He suffered from diffuse tension-type headache of progressively increasing intensity, and his objective neurological findings were normal. Magnetic resonance venography showed thrombosis of the transverse and right sigmoid sinuses, and magnetic resonance imaging (MRI) of the brain revealed no cerebral infarction. Two months later, a follow-up MR venography showed partial recanalization of the affected sinuses, and a brain MRI showed no infarction. Conclusions: Given the temporal sequence and the absence of other possible causes, we speculate that the second dose of the COVID-19 BNT162b2 vaccine may have triggered the development of CVST. Full article

Background and Clinical Significance: Spontaneous abdominal wall hematoma following violent coughing is a rare condition that poses a sometimes difficult therapeutic challenge, with surgical intervention often necessary in severe cases. This report aims to shed light on this rare but severe affection and raise the medical community’s interest by detailing the pathophysiology, management strategies, and outcome of spontaneous abdominal wall hematoma. Case Presentation: The basis for our paper was a comprehensive retrospective analysis of three cases treated in our surgical departments. We rigorously reviewed their clinical notes and imaging examinations to ensure the accuracy and reliability of our findings. Conclusions: These case reports underscore the challenging nature of such hematomas. Clinicians should be aware of this pathology, as it can be life-threatening. Our successful management of these cases shows that it is possible to effectively manage difficult clinical situations with timely intervention. Full article

Background and Clinical Significance: In recent years, the catheter ablation of cardiac arrhythmias has significantly reduced the incidence of sudden cardiac deaths and the need for chronic antiarrhythmic therapy. Endocardial ablation of ventricular arrhythmias is less common than atrial ablation and is technically more challenging. There are few documented extracardiac complications for ventricular ablation, and there is no report of diaphragmatic laceration. Case Presentation: We report a case of acute diaphragmatic laceration following endovascular ventricular ablation resulting in the strangulation of the gastric fundus in a patient who experienced previous transcutaneous ventricular ablation two years before. The patient underwent exploratory laparoscopy, revealing a diaphragmatic laceration with incarceration of the gastric fundus. Resection of the gastric fundus, showing acute ischemic damage, and closure of the diaphragmatic defect near the right ventricle with sutures were required. No complications were observed in the postoperative course. Conclusions: Although diaphragmatic injury is extremely rare, it should be considered among the complications associated with ventricular ablation. Full article