Reports

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

Background and Clinical Significance: We report on an infant with Snijders Blok–Campeau syndrome (psychomotor developmental delay, CNS malformations) and a complex heart defect with pulmonary arterial hypertension. Case Presentation: A DDX3X mutation encoding for RNA helicase was detected, which may suggest an association between Snijders Blok–Campeau syndrome and the development of pulmonary vasculopathy. However, further validation is required. Conclusions: We suggest an important role for DDX3X in the development of the pulmonary vasculature. Full article

Background and Clinical Significance: A vesicocervical fistula is an abnormal connection between the urinary tract and the cervix. With the increased prevalence of cesarean sections in recent years, the incidence of vesicocervical fistulas has also increased. The objective of this study was to evaluate the available evidence regarding the laparoscopic approach and to present a case study of a patient who underwent minimally invasive repair of a vesicocervical fistula after vacuum delivery. Case Presentation: A 32-year-old mother was admitted to our center with symptoms of urine leakage through the cervix uteri 5 days after vacuum-assisted delivery. In particular, the patient had recently undergone a vacuum-assisted delivery and cesarean section. A positive methylene blue staining test and transvaginal ultrasonography demonstrated an anatomical connection between the bladder and the cervix. Surgical repair of the vesicocervical fistula was performed under general anesthesia and a Foley catheter was inserted for 7 days. Urodynamic studies conducted seven days postoperative and six weeks post-surgery showed normal bladder function and capacity. Conclusions: Early detection and surgical correction of vesicocervical fistulas using a minimally invasive approach is crucial for the treatment of this condition. This case report emphasizes the importance of considering vesicocervical fistulas, particularly in patients with a history of cesarean section who have undergone vacuum-assisted delivery. Full article

Hyperattenuating contents detected in the gastrointestinal (GI) tract on CT scans are commonly seen and are almost always due to the purposeful ingestion of an oral contrast agent, usually barium- or iodine-based, used for evaluating the GI tract. Occasionally, other ingested material such as antacids or other medications, foreign objects, and medical devices can also be hyperattenuating. While these are usually correctly identified, these materials can potentially be misdiagnosed as a pathologic condition. Lokelma (sodium zirconium cyclosilicate (SZC)) is an increasingly used agent to treat hyperkalemia and has a hyperattenuating appearance on CT due to the presence of zirconium. However, this is not well known to the radiologic community. Here, we describe a case where SZC was seen in the GI tract on CT and misinterpreted as an acute GI bleed. A 72-year-old woman underwent single (portal venous) phase intravenous contrast-enhanced abdominal and pelvic CT after presenting to the ED with a lower GI bleed. The CT showed intraluminal hyperattenuation within the cecum, which was diagnosed prospectively as an active GI bleed. A CT angiogram of the abdomen and pelvis performed the following day for follow-up showed the hyperattenuating contents to be present on the non-IV contrast-enhanced series of the study, thereby proving that it was not due to active bleeding. Further investigation of the patient’s medical record showed that the patient was being treated with SZC for hyperkalemia, accounting for the hyperattenuating cecal contents. Awareness of the hyperattenuating appearance of SZC on CT by radiologists and clinical staff can help avoid confusion and misdiagnosis. Full article

Background and Clinical Significance: Acanthamoeba keratitis (AK) is a rare but serious corneal infection that can lead to severe visual impairment or blindness if not promptly treated. The condition is primarily associated with contact lens use but can also occur due to ocular trauma or environmental contamination. The most frequently used treatment options include biguanides and diamidines, though dosing protocols remain empirical and vary widely among clinicians. Recent research has explored a new standardized protocol with 0.08% polihexanide (polyhexamethylene biguanide, PHMB) as a monotherapy for AK, offering improved efficacy and better corneal penetration. Case Presentation: This case report describes a 35-year-old female contact lens wearer who presented with redness, pain, photophobia, and vision loss in her right eye. Upon referral, a slit-lamp examination revealed stromal infiltrates and perineural involvement, with in vivo confocal microscopy (IVCM) confirming Acanthamoeba cysts. The patient was treated with a new standardized intensive regimen of polihexanide 0.08% monotherapy, leading to rapid clinical improvement. Corneal infiltrates were significantly reduced, and the best-corrected visual acuity (BCVA) improved from 0.4 logMAR to 0.15 logMAR. Resolution with only discrete stromal haze was achieved over the following months, without recurrence. Conclusions: This case highlights the potential of polihexanide 0.08% monotherapy as an effective treatment for AK in a new standardized treatment protocol. Full article

Background and Clinical Significance: Takotsubo cardiomyopathy (TCM), an acute stress-induced left ventricular dysfunction, stems from catecholaminergic surges leading to transient myocyte stunning, calcium overload, and microvascular dysregulation. Although most cases resolve spontaneously, roughly 10% deteriorate into fulminant cardiogenic shock, warranting mechanical circulatory support (MCS). Impella^® provides direct transvalvular LV unloading but carries elevated risks of hemolysis, vascular compromise, and thrombogenicity. Conversely, the intra-aortic balloon pump (IABP) enhances diastolic coronary perfusion and marginally reduces afterload via counterpulsation, albeit with less potent LV decompression. Optimal MCS selection in TCM-associated shock therefore hinges on balancing hemodynamic benefits against procedural morbidity. Case Presentation: A 72-year-old female with coronary artery disease, paroxysmal atrial fibrillation (status post–left atrial appendage occlusion), and stage 3 chronic kidney disease presented with anterior ST-segment elevations (V2–V4) and troponin I >1000 ng/L, progressing rapidly to cardiogenic shock and respiratory failure. Coronary angiography revealed mild luminal irregularities, while echocardiography demonstrated severely reduced ejection fraction (5–10%) with characteristic apical ballooning. Refractory elevations in pulmonary capillary wedge pressure, despite escalating inotropes and vasopressors, prompted IABP insertion for partial LV offloading. Over one week, her ejection fraction improved to 35%, facilitating weaning from pressor support, extubation, and discharge on guideline-directed medical therapy. Conclusions: In TCM complicated by shock, meticulous MCS selection is paramount. Although Impella confers more robust unloading, heightened device-related complications may be unjustified in a largely reversible disease. IABP can sufficiently stabilize hemodynamics, enable myocardial recovery, and mitigate morbidity, underscoring the importance of individualized decision-making in TCM-related shock. Importantly, no trial has shown that MCS confers a proven long-term mortality benefit beyond initial hemodynamic rescue. Full article

Background and Clinical Significance: Nephrotic syndrome predisposes patients to venous thromboembolism. This case highlights the challenges of diagnosing pulmonary embolism in nephrotic syndrome patients with renal dysfunction, and emphasizes the utility of ventilation–perfusion lung scintigraphy when the contrast is contraindicated. Case Presentation: A 52-year-old male presented with fatigue, left back pain, dyspnea, and lower limb edema. The laboratory findings indicated nephrotic syndrome with significant proteinuria, hypoalbuminemia, and impaired renal function. Elevated inflammatory markers and lung infiltrates on chest CT suggested pneumonia. Despite antibiotic therapy, lung shadows, and elevated D-dimer persisted. Lower extremity ultrasound was negative for deep vein thrombosis. Due to concerns about contrast-associated nephropathy, ventilation–perfusion lung scintigraphy was performed, revealing a right lung base mismatch, leading to a diagnosis of pulmonary embolism and infarction. A kidney biopsy confirmed minimal change in disease. The patient achieved complete remission of nephrotic syndrome and was discharged on oral anticoagulation. His oral anticoagulation was discontinued after 3 months due to sustained remission and the absence of deep vein thrombosis. Conclusions: Pulmonary embolism and infarction can occur even in the absence of deep vein thrombosis. ventilation–perfusion lung scintigraphy is useful for detecting pulmonary embolism in patients with impaired renal function. Full article

Background and Clinical Significance: Choroidal nevi are common benign growths originating from pigment cells in the fundus of the eye. They are typically up to 5 mm in diameter, asymptomatic, and incidentally discovered during routine ophthalmological examinations. Case Presentation: We present the case of a 48-year-old woman with presbyopic complaints and an incidental finding of a large, pigmented, slightly raised tumor in the fundus of the left eye. Examinations revealed normal visual acuity in both eyes and normal intraocular pressure. Ophthalmoscopy of the left eye identified a large, pigmented lesion measuring 11.55 mm in diameter, with drusen-like deposits along the superior nasal vascular arch. Fluorescein angiography showed atrophic changes in the retinal pigment epithelium without evidence of a pathological vascular network. Ultrasound revealed dimensions of 10.21 mm at the base and 0.57 mm prominence, with no changes observed during a one-year follow-up. Optical coherence tomography (OCT) did not detect any subretinal fluid. The right eye appeared normal. Based on these findings, a giant choroidal nevus in the left eye was suspected, and the clinical approach involved monitoring at 3- to 6-month intervals. Discussion: This case highlights the diagnostic challenges associated with a large, pigmented fundus lesion in a relatively young patient. Giant choroidal nevi, defined as lesions larger than 10 mm at the base, may clinically mimic malignant melanoma. However, features such as drusen and atrophic changes in the retinal pigment epithelium suggest a chronic process. Differentiating between giant choroidal nevi and malignant melanoma is essential due to differing therapeutic approaches. Since some choroidal nevi can undergo malignant transformation, close monitoring for signs of malignancy is crucial. Conclusions: The size of pigmented nevi is a significant risk factor for malignant transformation, underscoring the importance of long-term follow-up for affected patients. Full article

Background and Clinical Significance: Full-thickness macular hole (FTMH) is a common retinal condition that impairs detailed vision, with idiopathic causes being the most prevalent. Small macular holes (<250 µm) have the potential for spontaneous closure, whereas larger holes typically require surgical intervention to restore visual acuity (VA). The management of small macular holes remains controversial, as approximately 25% resolve spontaneously. Reporting cases of spontaneous closure may provide evidence to support a conservative, non-surgical approach in such cases. Case Presentation: We report the case of a 65-year-old female patient monitored using spectral domain optical coherence tomography (OCT). She initially presented with unilateral FTMH and subsequently developed an FTMH in the fellow eye during follow-up. Both macular holes closed spontaneously, leading to VA recovery. OCT imaging enabled the identification of vitreomacular traction as the underlying mechanism for hole formation and the bridging process responsible for spontaneous closure. Conclusions: This case highlights the potential for spontaneous anatomical and functional recovery in small-diameter macular holes (<250 µm). A conservative, observational approach may be appropriate in selected cases, potentially avoiding unnecessary surgical intervention. Full article

Background and Clinical Significance: Dental demineralization is a multifactorial process influenced by biofilm activity, diet, and systemic conditions. While gastroesophageal reflux disease (GERD) is known for its role in enamel erosion, its contribution to cariogenic processes remains underexplored. Additionally, Brugada syndrome, a genetic arrhythmia disorder, may indirectly affect oral health due to medical complexities and reduced motivation for dental care. This case highlights the management of extensive mineral loss in a patient with GERD and Brugada syndrome, emphasizing the importance of personalized remineralization strategies and interdisciplinary collaboration. Case Presentation: A 27-year-old male with Brugada syndrome, treated with a subcutaneous implantable cardioverter defibrillator (S-ICD), presented with widespread enamel demineralization, multiple active carious lesions, and gingival inflammation. Clinical evaluation revealed a high DMFT index (15), significant plaque accumulation, and an oral pH of 5.8, indicating an elevated risk of mineral loss. Poor hygiene habits, frequent sugar intake, and GERD-related acid exposure contributed to his condition. The therapeutic approach included patient education, fluoride-functionalized hydroxyapatite toothpaste and mousse, dietary modifications, and restorative procedures. After 120 days, improvements included enhanced enamel integrity, a reduction in plaque index (from 50% to 25%), and the resolution of gingival inflammation (BOP: 38% to 12%). Conclusions: This case underscores the importance of an integrated approach to managing dental demineralization in patients with systemic conditions. The combination of remineralization therapy, behavioral modifications, and structured follow-up yielded significant clinical benefits. Further research is needed to develop standardized protocols for individuals at high risk due to systemic factors affecting oral health. Full article

Background and Clinical Significance: In multiple sclerosis (MS), there are many therapeutic options, but most of the available drugs can cause drug-induced liver injury (DILI) after the first infusions. A wide group of other drugs may induce liver injury, from simple anti-pyretic medication like Acetaminophen to various dietary herb supplements like Ashwagandha. Case Presentation: A 39-year-old female patient, diagnosed with MS, has been previously treated with Glatiramer Acetate and interferon-beta, and is currently undergoing immunomodulatory treatment with natalizumab (infusion no. 81). She had a recent history of an airway infection for which she took 4–5 capsules of Acetaminophen per day for 7 days, along with the consumption of dietary supplement with Ashwagandha herb. She presented with jaundice, pruritus, and lower limb ecchymoses. The laboratory results revealed higher aminotransferase levels, total bilirubin, and alkaline phosphatase. The screening for autoimmune and infectious hepatitis was negative. The scenario of toxic hepatitis induced by recently used drugs (Ashwagandha dietary herb supplement and Acetaminophen) was adequate to start therapy with oral cortisone. The clinical and laboratory results gradually improved, with normal levels of liver enzymes and bilirubin, with no further increase after the discontinuation of corticosteroid therapy and dietary herb supplements. Conclusions: This case highlights the challenges in determining the multiple etiologies and managing acute liver injury in an MS patient on natalizumab, an immunomodulatory drug that can induce liver injury after the first infusions, especially in the context of recent ingestion of hepatotoxic drugs. Full article

Background and Clinical Significance: Orofacial granulomatosis is a rare but often disabling condition potentially associated with inflammatory bowel disease (IBD). Pathogenesis is not well understood, and no disease-specific approved treatment exists to date. Case Presentation: A 26-year-old woman with pan-enteric Crohn’s disease developed buccal swelling and deep oral ulcers histologically confirmed as associated orofacial granulomatosis. Multiple therapies were attempted during her life, including systemic steroids and immunomodulator drugs as Thalidomide, Adalimumab, and Ustekinumab in combination with topical steroid injections and Cyclosporin application, with no or minimal benefit. Only Infliximab showed good efficacy, but it was suspended due to side effects. Following secondary loss of response to Ustekinumab, compassionate treatment with Upadacitinib, a recently developed oral Jak-1 selective inhibitor, resulted in the complete resolution of the oral ulcers. Moreover, after the 12-week induction phase and the transition to 30 mg/daily maintenance dosage, the oral disease remained controlled. Due to the clinical recurrence of Crohn’s disease, Vedolizumab was added as associated treatment, resulting in complete clinical benefit after six months of follow-up. Conclusions: This is a unique case of orofacial granulomatosis associated with pan-enteric Crohn’s disease successfully treated with Upadacitinib. More data are needed to explore its potential benefits in this clinical condition. Full article

Background and Clinical Significance: Cricopharyngeal achalasia (CPA) is a rare disorder of the upper esophageal sphincter (UES), characterized by failure of the cricopharyngeus muscle to relax during swallowing. Pediatric CPA is particularly uncommon and often associated with comorbidities, such as neurological impairments, developmental delays, and laryngomalacia. The existing literature primarily consists of small case series, limiting insights into its natural history, particularly spontaneous resolution. This case highlights a unique instance of spontaneous improvement in CPA, contributing valuable knowledge to pediatric otolaryngology and gastroenterology. Case Presentation: We report the case of a 38 months male with global motor delay, presenting with feeding difficulties, choking, and aspiration. A videofluoroscopic swallow study (VFSS) confirmed CPA with impaired bolus passage and posterior indentation consistent with a cricopharyngeus bar. Despite multidisciplinary consultations, interventional therapies were deferred due to parental preference and cricopharyngeal EMG findings, showing muscle inhibition during swallowing. Over six months, the patient exhibited a spontaneous resolution of feeding difficulties and aspiration, with the normalization of VFSS findings. This rare case suggests a distinct natural history of CPA in young children. Conclusions: This case emphasizes the role of cricopharyngeal EMG in the differential diagnosis for pediatric feeding difficulties and its potential for spontaneous resolution. It highlights the need for further research into prognostic indicators and management strategies for CPA in children, offering a hopeful perspective for clinicians and caregivers. Full article

Background: Post COVID-19 Condition is a recently recognized syndrome characterized by the persistence of various symptoms, including dyspnea, physical and mental fatigue, and post-exertional malaise. Currently, there is no established treatment or clear consensus on the effectiveness of rehabilitation, and given that patients could benefit from home-based rehabilitation, telerehabilitation, defined as remote rehabilitation using telematic systems, may be an option to reach more of the population with persistent COVID-19 symptoms. Therefore, it is necessary to show the efficacy of this telematic approach and the benefits of a multimodal rehabilitation strategy in these patients. Methods: Patients underwent home rehabilitation using a 12-week synchronous telerehabilitation system. The intervention included therapeutic education and physical and respiratory rehabilitation. The following variables were analyzed: Fatigue, quality of life, dyspnea, respiratory strength, aerobic capacity, and upper and lower limb strength. Conclusions: After 12 weeks, significant improvements were found in fatigue, aerobic capacity, and limb and respiratory strength. However, no improvement was found in dyspnea scores, which did not correlate with respiratory strength. Interestingly, a post-intervention correlation emerged between the distance covered in aerobic capacity and perceived fatigue, suggesting that asynchronous telerehabilitation could be a viable treatment strategy for these patients. Full article

Background and Clinical Significance: Basal cell nevoid carcinoma syndrome, or Gorlin–Goltz Syndrome (GGS), is a genetic disease caused by germline mutations in genes involved in the Sonic HedgeHog (SHH) signaling pathway, mainly in the PTCH1 gene. PTCH1 is a receptor for SHH, and the activation of SHH signaling exerts a direct effect on the proliferation and maintenance of stem cells; alteration of its signaling could promote a favorable microenvironment for the maintenance of tumor viability. The main clinical manifestations of patients with GGS include multiple basal cell carcinomas, odontogenic keratocysts, calcification of the falx cerebri, palmoplantar fossae, hypertelorism, prognathism, fused or bifid ribs, and macrocephaly, which occur at different stages of life. Case Presentation: Here, the case of a 48-year-old woman is described, for whom a clinical and histopathological diagnosis of GGS was made due to the presence of two major criteria (multiple odontogenic keratocysts and calcification of the falx cerebri) and one minor criterion (congenital anomalies), according to Kimonis. Additionally, an end-point RT-PCR assay showed a decrease in PTCH1 gene expression. A conservative therapy was established, and satisfactory results were obtained in a follow-up period of 18 months. Conclusions: Kimonis' clinical criteria are important for establishing the diagnosis of Gorlin syndrome. Full article

Background and Clinical Significance: Progressive familial intrahepatic cholestasis (PFIC) refers to a heterogeneous group of autosomal recessive disorders consisting of mutations of hepatocyte transporting-system genes involved in bile formation. The exact prevalence remains unknown but is estimated at 1 in 500.000 for PFIC 3, caused by mutations in the ABCB4 gene. We report three cases of PFIC 3 from the patient’s sister, brother, and cousin, diagnosed in our Pediatric Department in 2022–2023. Case Presentation: Case 1: A 10-year-old girl was admitted for jaundice and abdominal pain. She was diagnosed with severely advanced hepatic cirrhosis and massive cholestasis. Genetic testing showed ABCB4 homozygous mutation. She rapidly developed fulminant liver failure, and a living donor liver transplant was performed. Case 2: A 6-year-old brother was previously diagnosed with cholestatic hepatitis of unknown cause back in 2018 and presented with similar features (generalized jaundice, severe pruritus with generalized scratching lesions); symptoms had progressively developed from the first year of life. He also exhibited particular facial features (big forehead, twisted ear lobe, straight nose). He received cadaveric liver transplantation. Case 3: Nephew of first two children, a 3-year-5-month-old boy, was admitted for failure to thrive and a one-year history of jaundice, pruritus, and splenomegaly. He was tested positive for homozygous ABCB4 mutation. He is currently under medical treatment with stable liver function. Conclusions: The clinical significance of this particular homozygous variant identified in ABCB4 in our series of cases (c.2534G>T (p.Gly845Val)) was uncertain up to this case report. The present data provide convincing evidence as to the correlation between this mutation and the clinical phenotype of PFIC 3. Full article

Background and Clinical Significance: Congenital LQTS is a life-threatening condition, resulting from a mutation of the gene encoding the cardiac ion channels, which results in prolongation of the ventricular action potential. Genetic screening of family members in symptomatic and asymptomatic patients is crucial for the prevention of sudden cardiac death. There are a number of detected mutations of congenital LQTS, of which the three forms LQT1, LQT2, and LQT3 are the best described. In addition to the described ECG morphology, the key triggers and treatment approach are described. This emphasizes even more the importance of timely screening of these patients, and the decision for therapy. It should be emphasized that the phenotypic manifestations significantly depend on the affected genes. The guidelines in the treatment approach are very clear, although it should be emphasized that beta blockers are the first and basic treatment therapy. The therapeutic choice is narrowed especially if they are not effective. Case Presentation: This is a case report of a young woman diagnosed with LQTS who was confirmed to have KCNH2 mutations through genetic analysis. The same mutation was also confirmed in her children. Changes in the therapeutic approach are described, and the use of beta blockers, depending on the symptoms and drug tolerance. Especially in the postpartum period, due to reduced progesterone levels, in this case, the patient was implanted with a cardioverter defibrillator. Conclusions: It should be emphasized that timely recognition is essential for early diagnosis, regular control, timely initiation of treatment, and prevention of adverse events. Full article