Reports

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

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