A rare cardiac manifestation of Wegener’s granulomatosis
Ontology highlight
ABSTRACT:
SUBMITTER: Elitok A
PROVIDER: S-EPMC5337019 | biostudies-literature | 2015 Feb
REPOSITORIES: biostudies-literature
Similar Datasets
Project description: Not available
| S-EPMC5337004 | biostudies-literature
Project description:Introduction Wegener granulomatosis is a systemic vasculitis affecting small and medium-sized vessels of the upper and lower respiratory tract and kidneys. Objective To describe a case of Wegener disease with atypical manifestation. Resumed Report We describe the case of a 50-year-old woman with chronic otitis media and sensorineural hearing loss as the primary symptoms, without other manifestations. Conclusion In cases of acute ear manifestations with or without hearing loss and with poor response to usual treatments, Wegener granulomatosis should be included among the possible etiologies. After adequate diagnoses and treatment of this rare disease, there was favorable evolution.
| S-EPMC4490928 | biostudies-other
Project description:Background Granulomatosis with polyangiitis (GPA), a systemic antineutrophil cytoplasmic antibody (ANCA) associated vasculitis, is characterized by inflammation of the small arteries, arterioles, and capillaries classically manifesting with glomerulonephritis and necrotizing granulomatous lesions of the upper and lower respiratory tract. With an incidence of approximately 12 cases per one million individuals per year it is an uncommon diagnosis that typically presents as frequent pulmonary and sinus infections; however, if left without definitive treatment progresses to more severe manifestations specifically hemoptysis and hematuria. Case Description This case report highlights a 15-year-old woman who had both classic and non-classic findings making the diagnosis challenging. Specifically, her age of presentation, improvement with anti-microbials, and coronary dilation were not classic. Additionally, her lab work was negative for the cytoplasmic subset antineutrophil cytoplasmic autoantibody (c-ANCA), but positive for serum anti-proteinase 3 antineutrophil cytoplasmic antibody (PR3-ANCA) which further delayed the ultimate diagnosis as this is typically c-ANCA positive. Conclusions Other systemic vasculitides, such as mucocutaneous lymph node disease, are associated with cardiac pathology necessitating further medical management and follow-up to prevent increased morbidity and mortality. Knowing this, we conclude that further evaluation for cardiac pathology would be prudent as part of the initial workup of patients with a diagnosis of GPA. Included is a brief review of available literature on GPA to emphasize the typical presentation, lab findings, and importance of early diagnosis.
| S-EPMC9929659 | biostudies-literature
Project description: Not available
| S-EPMC10667027 | biostudies-literature
Project description:BackgroundGranulomatosis with polyangiitis (GPA), a necrotizing granulomatous disease, very rarely involves the central nervous system (CNS), particularly the pituitary. Delayed treatment may cause permanent bilateral blindness. We report an isolated case of pituitary GPA that manifested as a progressive bilateral temporal visual field (VF) defect and was diagnosed via pituitary biopsy. Additionally, we review ocular, chiasmal and cranial nerve involvement in pituitary GPA.Case presentationA 20-year-old Chinese man was referred for repeated fever, sudden headache, diplopia with a bilateral best-corrected visual acuity (BCVA) of 10/20, ptosis in both eyes and restricted abduction on the right side. VF tests showed bitemporal hemianopsia. Laboratory tests revealed hypothyroidism and were negative for autoimmune markers. Enhanced magnetic resonance imaging (MRI) showed pituitary enlargement. The diagnosis was lymphocytic pituitaritis. After intravenous (IV) dexamethasone treatment, full recovery occurred within 2 months. Two years later, the patient was readmitted for headache recurrence. With oral prednisone, the visual acuity in his right eye rapidly decreased to hand motion (HM) within one month. Enhanced MRI showed pituitary enlargement and a new, invasive suprasellar CNS lesion. All infection- and autoimmune-related tests were negative. The visual acuity in his right and left eye decreased to no light perception (NLP) after 6 days and 2 weeks, respectively. The biopsy results suggested GPA. After IV methylprednisolone treatment, complete remission of the symptoms occurred and was confirmed by MRI. The 15-month follow-up showed no signs of recurrence.ConclusionGPA typically affects the respiratory tract, lungs and kidneys. To date, 50 cases with pituitary involvement have been reported. Chiasmal and cranial nerve involvement leading to visual acuity impairment are common. We found 2 cases with severe visual loss resembling our case and discuss certain similarities.
| S-EPMC6240177 | biostudies-literature
Project description:Rare diseases are usually genetic, chronic and incurable disorders with a relatively low incidence. Developments in the diagnosis and management of rare diseases have been relatively slow due to a lack of sufficient profit motivation and market to attract research by companies. However, due to the attention of government and society as well as economic development, rare diseases have been gradually become an increasing concern. As several dental-craniofacial manifestations are associated with rare diseases, we summarize them in this study to help dentists and oral maxillofacial surgeons provide an early diagnosis and subsequent management for patients with these rare diseases.
| S-EPMC6381182 | biostudies-literature
Project description: Not available
| S-EPMC9017815 | biostudies-literature
Project description:Lymphomatoid granulomatosis (LYG) is a rare Epstein-Barr virus (EBV)-driven B-cell lymphoproliferative disease (LPD). This disease is hypothesized to result from defective immune surveillance of EBV, with most patients showing evidence of immune dysfunction, despite no known primary immunodeficiency. Pathologically, LYG is graded by the number and density of EBV+ atypical B cells, and other characteristic findings include an angioinvasive/angiodestructive reactive T-cell infiltrate and various degrees of necrosis. Clinically, LYG universally involves the lungs with other common extranodal sites, including skin, central nervous system, liver, and kidneys. Nodal and/or bone marrow involvement is extremely rare and, if present, suggests an alternative diagnosis. Treatment selection is based on histologic grade and underlying pathobiology with low-grade disease hypothesized to be immune-dependent and typically polyclonal and high-grade disease to be immune-independent and typically oligoclonal or monoclonal. Methods of augmenting the immune response to EBV in low-grade LYG include treatment with interferon-α2b, whereas high-grade disease requires immunochemotherapy. Given the underlying defective immune surveillance of EBV, patients with high-grade disease may have a recurrence in the form of low-grade disease after immunochemotherapy, and those with low-grade disease may progress to high-grade disease after immune modulation, which can be effectively managed with crossover treatment. In patients with primary refractory disease or in those with multiple relapses, hematopoietic stem cell transplantation may be considered, but its efficacy is not well established. This review discusses the pathogenesis of LYG and highlights distinct histopathologic and clinical features that distinguish this disorder from other EBV+ B-cell LPDs and lymphomas. Treatment options, including immune modulation and combination immunochemotherapy, are discussed.
| S-EPMC7162687 | biostudies-literature
Project description:Myocarditis is a rare disease manifestation of acute Q fever caused by infection with Coxiella burnetii, an infectious Gram-negative proteobacteria. C. burnetii has a large animal reservoir and is often transmitted to humans during animal birth. Acute Q fever has a nonspecific disease presentation leading to delayed treatment and potentially worsened clinical outcomes. We describe a case of an otherwise healthy adult man with angina, ST elevations, and positive cardiac troponins-all findings suggestive of acute coronary syndrome. Cardiac catheterization revealed no significant coronary blockages or abnormalities. On echocardiography he was found to have heart failure with reduced ejection fraction. The patient's social history included several risk factors for Q fever. Serologic testing returned positive for anti-C. burnetii antibodies, and a diagnosis of acute Q fever myocarditis was made. The patient was appropriately treated with a course of doxycycline and clinically improved. <Learning objective: Q fever has a nonspecific presentation often leading to a delayed or missed diagnosis, resulting in worsened morbidity and mortality. Patients with angina-like chest pain and risk factors for Q fever should promptly be tested for infection with C. burnetii. Cardiac magnetic resonance imaging is a useful tool to improve diagnostic accuracy, with positive serology confirming the diagnosis. Treatment includes a course of antibiotics-often doxycycline.>.
| S-EPMC6698251 | biostudies-literature
Project description:Pleural involvement is rare in sarcoidosis. The presence of a large symptomatic effusion in a patient with sarcoidosis should therefore prompt further investigation for an alternate aetiology. Here we present a case of confirmed pleuro-parenchymal sarcoidosis. We discuss the important differential diagnoses and review the current literature.
| S-EPMC5925957 | biostudies-literature