Background and Clinical Significance: Autoimmune gastritis (AIG) can cause iron-deficiency anemia (IDA) before vitamin B12 deficiency develops. Although AIG-associated IDA is more common in younger individuals, it can also occur in older adults. Type 1 gastric neuroendocrine tumors (gNETs) associated with hypergastrinemia may indicate previously unrecognized AIG; Case Presentation: A 72-year-old woman was referred for microcytic anemia. Laboratory tests revealed severe IDA, with hemoglobin of 4.7 g/dL, mean corpuscular volume of 56 fL, and ferritin of 3.2 ng/mL, despite normal vitamin B12 levels. Gastrointestinal endoscopy identified no bleeding source but revealed extensive gastric mucosal atrophy and a 5 mm gastric lesion. Histopathological examination confirmed a grade 1 gNET. Probable AIG was diagnosed based on a composite clinical assessment of corpus-predominant endoscopic atrophy, anti-parietal cell antibody positivity, and marked hypergastrinemia (1147.2 pmol/L) in the absence of acid-suppressive therapy, although biopsies did not clearly demonstrate the characteristic corpus-predominant histological pattern. The NET G1 was therefore considered consistent with a type 1 gNET. Although the initial biopsy suggested Helicobacter pylori infection, subsequent histology, gastric mucosal polymerase chain reaction, and serum antibody testing were negative. Anemia improved after red blood cell transfusion and intravenous iron therapy. The gNET was completely resected endoscopically. A second gNET detected during follow-up was also completely resected; Conclusions: AIG should be considered in older adults with unexplained IDA, even without vitamin B12 deficiency or macrocytic anemia. A gNET may provide an important clue to underlying AIG. In this case, the diagnosis of probable AIG represented a composite clinical judgment, given the absence of definitive histological findings. Even when H. pylori infection is suspected, gastric mucosal atrophy should not be attributed solely to H. pylori-associated gastritis, and coexisting AIG should be evaluated using integrated serological, endoscopic, and histopathological findings.
Background and Clinical Significance: Pulmonary cement embolism (PCE) is a recognized complication of vertebral augmentation, with presentations ranging from incidental radiological findings to severe cardiopulmonary compromise. This case series illustrates the clinical importance of assessing embolus distribution together with symptoms and hemodynamic status; Case Presentation: Three women aged 65, 84, and 55 years were diagnosed with PCE following vertebroplasty for osteoporotic or metastatic vertebral compression fractures. In the first patient, predominantly peripheral cement emboli were detected incidentally five years after vertebroplasty, and no PCE-specific treatment was undertaken. The second patient developed chest pain, dyspnea, and cough 15 days after vertebroplasty. Despite extensive pulmonary cement deposition, she remained hemodynamically stable and received apixaban. The third patient presented with severe cardiopulmonary deterioration 20 days after a second vertebroplasty procedure. CT demonstrated subtotal right pulmonary artery obstruction and intracardiac cement. Despite intensive supportive treatment and unfractionated heparin, she died before mechanical removal could be performed. Paravertebral venous cement leakage was identified on CT in both symptomatic patients; Conclusions: These cases illustrate the variable clinical consequences of PCE and the importance of integrating clinical assessment with imaging findings. The intervals to presentation or detection do not establish the timing of embolization. Previous vertebral augmentation should remain relevant when investigating unexplained cardiopulmonary symptoms, even when the procedure was not recent.
Background and Clinical Significance: CNGA3 variants have been implicated in congenital retinal photoreceptor disorders, especially those affecting cone photoreceptor cells and therefore color discrimination. This report details the diagnosis and unusual phenotype of a pediatric patient diagnosed with two pathogenic CNGA3 variants reported in trans. Case Presentation: A patient presented to pediatric ophthalmology at two years of age and was diagnosed with high myopia, left strabismic amblyopia, and exotropia with a binocular visual acuity of 20/1400. Amblyopia was managed with atropine 1% drops in the right eye and strabismus corrected with bilateral lateral rectus muscle recession surgery. Genetic testing revealed a compound heterozygous CNGA3 variant. An unexpectedly mild phenotype was noted with normal amplitude, slightly delayed electroretinography (ERG) responses, relatively preserved color vision with Hardy-Rand-Rittler (HRR) testing, and fundus imaging consistent with high myopia. By the age of 10, best corrected monocular visual acuity was 20/40. Conclusions: Compound heterozygous CNGA3 variants demonstrate significant variable expressivity, highlighting the need for functional testing.
Background and Clinical Significance: Azacitidine (AZA) is a hypomethylating agent used in the treatment of several hematologic malignancies. Although its hematologic and gastrointestinal toxicities are well described, cardiovascular adverse events remain rare and incompletely characterized. Increasing pharmacovigilance data suggest a potential association between AZA and cardiac complications, including pericarditis and pericardial effusion. We report a case of acute pericarditis progressing to cardiac tamponade during AZA-based therapy and review the available literature on azacitidine-associated pericardial disease. Case Presentation: A woman with acute myeloid leukemia treated with AZA and venetoclax developed acute pericarditis with probable myopericardial involvement during the first treatment cycle. Despite initial improvement with anti-inflammatory therapy, she re-presented with a large pericardial effusion causing cardiac tamponade, requiring emergent pericardiocentesis. In parallel, we conducted a review of the literature to identify reports of azacitidine-associated pericardial disease. Cardiac events most commonly occurred early in therapy and were frequently reported in the setting of combination therapy, most commonly AZA with venetoclax. Management generally involved discontinuation of AZA and corticosteroid therapy. Conclusions: Azacitidine-associated pericarditis with progression to pericardial effusion and cardiac tamponade is rare but potentially life-threatening. These events appear to occur predominantly early in treatment, emphasizing the importance of heightened clinical awareness, prompt cardiac evaluation, and multidisciplinary management. Causal attribution remains challenging in patients receiving combination regimens. To our knowledge, this represents the first focused review of azacitidine-associated pericardial disease, consolidating the available evidence and highlighting important gaps in recognition, reporting, and understanding of this uncommon toxicity.
Background: Within gynecological oncology, vulvar metastases represent an exceptionally rare clinical entity, accounting for 5% to 8% of all observed vulvar lesions. Secondary vulvar tumors usually reflect advanced metastatic disease and are associated with poor prognosis. This study describes the clinical and morphological characteristics of metastatic vulvar neoplasms and compares them narratively with previously reported cases and primary vulvar malignancies. Methods: We conducted a retrospective review of institutional medical records spanning from 2013 to 2021. The study specifically selected patients diagnosed with metastatic vulvar neoplasms whose predominant initial symptom and primary reason for medical consultation was the development of localized vulvar lesions. Results: During the specified study period, 6 distinct cases of metastatic disease were identified, comprising merely 2.33% of the total vulvar neoplasm cases evaluated at our institution. Anatomically, 83.3% of these metastatic lesions were localized on the vulvar lips. Clinical presentation was evenly distributed, with 50% of patients presenting with a solitary lesion and 50% exhibiting multiple lesions. Prognostic outcomes were overwhelmingly unfavorable; only 1 patient survived beyond one year of continuous medical treatment. Conclusions: Our analysis suggests that several critical clinical parameters can effectively guide the timely differential diagnosis of metastatic vulvar lesions. These key clinical markers include the patient’s age at presentation, the physical extent of the lesion, the number of tumors present, associated localized or systemic symptoms, and the critical presence of other concurrent metastatic sites confirmed via imaging.
