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BMJ Case Reports Apr 2024Multiple evanescent white dot syndrome (MEWDS) is a rare inflammatory eye condition. We report an atypical case of MEWDS in a man in his 30s who presented with blurred...
Multiple evanescent white dot syndrome (MEWDS) is a rare inflammatory eye condition. We report an atypical case of MEWDS in a man in his 30s who presented with blurred vision (visual acuity 6/9), floaters and photopsia in his left eye. Funduscopy examination showed mild peripheral nasal vascular sheathing with subtle grey-white dots highlighted on fundus autofluorescence. As far as the authors are aware, this is the first case presentation whereby areas affected by MEWDS started in the peripheral retina and migrated centrally. Fluorescein angiography showed hyperfluorescent areas in wreath-like patterns nasally. Optical coherence tomography showed disruption of the ellipsoid zone and hyperreflective projections into the outer nuclear layer. The size of the involved area increased over 3 weeks and subsequently resolved over 4 months. Simultaneously, the patient's symptoms also resolved, without treatment. This case highlights the importance of multimodal imaging, especially ultrawidefield imaging in diagnosing MEWDS.
Topics: Humans; Male; Fluorescein Angiography; Tomography, Optical Coherence; Adult; Retinal Diseases; Visual Acuity; White Dot Syndromes; Retina; Syndrome
PubMed: 38684347
DOI: 10.1136/bcr-2023-255522 -
Cardiovascular Pathology : the Official... 2024This study aimed to explore the clinical and pathological features of aortitis in China, which is a rare disease that is often overlooked preoperatively.
BACKGROUND
This study aimed to explore the clinical and pathological features of aortitis in China, which is a rare disease that is often overlooked preoperatively.
METHODS
We reviewed the records of 2950 patients who underwent aortic surgery at Wuhan Asia General Hospital from 2016 to 2023. Clinical and pathological data were collected and compared across different groups.
RESULTS
Out of 2950 patients, 15 had healed aortitis, 2 were healed Takayasu aortitis (TAK), and 13 were not further classified. Forty-two had active aortitis, including clinically isolated aortitis ([CIA], 42.9%), infectious aortitis ([IA], 26.2%), TAK (16.7%), and Behçet's syndrome ([BS], 14.3%), half of these cases were not recognized preoperatively. All patients who developed perivalvular leakage during follow-up had concurrent non-infectious valvulitis with mixed inflammatory pattern at the time of initial surgery. Seventeen out of 18 patients with CIA survived without complications, as did 8 out of 11 patients with IA, 6 out of 7 patients with TAK, and 2 out of 6 patients with BS.
CONCLUSIONS
Half of the aortitis cases were initially diagnosed by pathologists. Noninfectious valvulitis with mixed inflammatory pattern is a risk factor for perivalvular leakage. BS is associated with a higher rate of complications. Patients with CIA have a good prognosis in China, which is different from the West.
Topics: Humans; Male; Female; China; Middle Aged; Adult; Aortitis; Takayasu Arteritis; Retrospective Studies; Aged; Young Adult; Behcet Syndrome; Risk Factors; Predictive Value of Tests; Treatment Outcome; Aorta; Adolescent; Prognosis; East Asian People
PubMed: 38679299
DOI: 10.1016/j.carpath.2024.107651 -
Seminars in Arthritis and Rheumatism Jun 2024Vascular events account for a considerable burden of morbidity and mortality in Behçet syndrome (BS). Thrombosis occurs in 1.8-21 % pediatric BS patients, even if the... (Comparative Study)
Comparative Study
INTRODUCTION
Vascular events account for a considerable burden of morbidity and mortality in Behçet syndrome (BS). Thrombosis occurs in 1.8-21 % pediatric BS patients, even if the real prevalence is still largely unknown.
OBJECTIVES
To report clinical features and outcomes of pediatric BS patients with thrombosis and to compare the demographic and clinical characteristics of BS patients with and without thrombosis.
METHODS
Retrospective data collection of BS patients with thrombosis (T+) included in the EUROFEVER registry. BS patients without thrombosis (T-), belonging to the same rheumatology units, were matched in a 2:1 ratio.
RESULTS
37 T+ were compared to 74 T- patients. At onset, ICBD criteria fulfillment was higher in the T- group (p = 0.015). Caucasian patients were more often T-, Turkish patients were more frequent in T+ group (p = 0.002). At onset, pustulosis was most frequently observed in the T- (p < 0.001) as well as gastrointestinal symptoms (p < 0.001) and ocular involvement (p = 0.022). Neurological symptoms were more often described in T+ (p = 0.034). As for T+, thrombosis was reported at BS presentation in 8/37 (21.6 %). For the T + e patients who developed thrombosis later, oral aphthosis (p = 0.003), genital aphthosis (p = 0.014) were more frequently observed at BS onset, while pustulosis (p = 0.005) and fever (p = 0.043) coexisted with thrombosis. Thrombosis was mainly venous (26/37,70.3 %), involving the cerebral sinuses (21/37, 56.8 %). After thrombosis, 35/37 (94.6 %) T+ patients received an immunomodulatory treatment compared with 16/29 (55.2 %) pre-thrombosis. A recurrence was reported in 6/31(19.4 %).
CONCLUSION
Thrombosis was reported at BS presentation in one fifth of cases. Pustolosis and fever were more frequently concomitant to thrombosis. Sinus veins were the most frequent site.
Topics: Humans; Behcet Syndrome; Male; Female; Registries; Child; Adolescent; Retrospective Studies; Thrombosis; Europe; Prevalence
PubMed: 38678817
DOI: 10.1016/j.semarthrit.2024.152454 -
Behçet's Disease, Pathogenesis, Clinical Features, and Treatment Approaches: A Comprehensive Review.Medicina (Kaunas, Lithuania) Mar 2024Behçet's disease is a systemic inflammatory disorder of unknown etiology. The disease manifests with diverse clinical symptoms, most commonly recurrent oral and genital... (Review)
Review
Behçet's disease is a systemic inflammatory disorder of unknown etiology. The disease manifests with diverse clinical symptoms, most commonly recurrent oral and genital ulcers, skin lesions, and uveitis, though it can affect multiple organ systems. Diagnosis is primarily clinical due to the lack of a definitive diagnostic test, and management involves a multidisciplinary approach to control inflammation and manage symptoms. Current treatment strategies involve corticosteroids, immunosuppressive agents, and, increasingly, biological therapies. Behçet's disease exhibits a higher prevalence along the Silk Road, suggesting a role of environmental and genetic factors. Despite significant progress in understanding its clinical characteristics and treatment approaches, gaps remain in our understanding of its pathogenesis. Future research is needed to elucidate the disease's pathophysiology and optimize treatment strategies.
Topics: Humans; Adrenal Cortex Hormones; Behcet Syndrome; Immunosuppressive Agents
PubMed: 38674208
DOI: 10.3390/medicina60040562 -
Ocular Immunology and Inflammation Apr 2024Syphilis is a "Great Masquerader" because of its versatile clinical manifestations. We aim to report a patient whose first presentation was with presumed autoimmune...
PURPOSE
Syphilis is a "Great Masquerader" because of its versatile clinical manifestations. We aim to report a patient whose first presentation was with presumed autoimmune hepatitis. Fulminant retinitis subsequently ensued, thus enabling correct diagnosis and treatment.
METHODS
Case description.
RESULTS
A 62-year-old male presented with bilateral drop in vision. One month earlier, right eye (RE) arteritic ischemic optic neuropathy was suspected because of severe headache, sudden drop in vision, relative afferent pupillary defect, and elevated inflammatory markers. Systemic steroids were instituted. Brain imaging and temporal artery biopsy were unyielding. Four months earlier, liver biopsy performed because of elevated cholestatic liver enzymes, revealed granulomatous hepatitis. After ruling out viral hepatitis, autoimmune etiology was presumed, and prednisone was started. On presentation, visual acuity (VA) was counting fingers in RE and 6/20 in the left eye (LE). Bilateral panuveitis with punctate inner retinitis, placoid chorioretinitis was diagnosed. Serological tests were strongly positive for syphilis. Lumbar puncture confirmed the existence of neurosyphilis. Systemic penicillin was initiated. One month later, VA improved to RE 6/10, LE 6/7.5, with marked resolution of posterior uveitis. No recurrence was observed over 27-month-period.
CONCLUSION
Acquired syphilitic hepatitis is rarely reported. Administering steroids potentially aggravated the infection. The characteristic features of placoid chorioretinitis and punctate inner retinitis connected the pieces of the puzzle together to the diagnosis of ocular and neurosyphilis. Intrahepatic cholestasis with negative serological panel of hepatotropic pathogens should raise the suspicion of non-hepatotropic pathogens especially syphilis.
PubMed: 38669600
DOI: 10.1080/09273948.2024.2345290 -
Case Reports in Ophthalmology 2024Blau syndrome (BS) is a rare autoimmune disease. We report here an atypical case of BS.
INTRODUCTION
Blau syndrome (BS) is a rare autoimmune disease. We report here an atypical case of BS.
CASE PRESENTATION
We present a case of late-onset eye manifestations in a Chinese girl of 18 years old with sporadic BS, presenting with panuveitis. We performed comprehensive ocular examinations including fluorescein fundus angiography and indocyanine green angiography for her. The oral hormone plus local anti-inflammatory eye drops have well controlled the inflammation of her eyes.
CONCLUSION
Our case highlights the necessity of systemic medical history inquiry for every eye discomfort.
PubMed: 38660583
DOI: 10.1159/000536005 -
Yonsei Medical Journal May 2024Studies on intestinal Behçet's disease (BD) complicated by myelodysplastic syndrome (MDS) are rare, and no established therapeutic guidelines exist. This study aimed to...
PURPOSE
Studies on intestinal Behçet's disease (BD) complicated by myelodysplastic syndrome (MDS) are rare, and no established therapeutic guidelines exist. This study aimed to evaluate the clinical presentation and outcomes of patients with intestinal BD complicated by MDS (intestinal BD-MDS) and suggest a treatment strategy.
MATERIALS AND METHODS
Data from patients with intestinal BD-MDS from four referral centers in Korea who were diagnosed between December 2000 and December 2022 were retrospectively analyzed. Clinical features and prognosis of intestinal BD-MDS compared with age-, sex-matched intestinal BD without MDS were investigated.
RESULTS
Thirty-five patients with intestinal BD-MDS were included, and 24 (70.6%) had trisomy 8. Among the 35 patients, 23 (65.7%) were female, and the median age at diagnosis for intestinal BD was 46.0 years (range, 37.0-56.0 years). Medical treatments only benefited eight of the 32 patients, and half of the patients underwent surgery due to complications. Compared to 70 matched patients with intestinal BD alone, patients with intestinal BD-MDS underwent surgery more frequently (51.4% vs. 24.3%; =0.010), showed a poorer response to medical and/or surgical treatment (75.0% vs. 11.4%; <0.001), and had a higher mortality (28.6% vs. 0%; <0.001). Seven out of 35 patients with intestinal BD-MDS underwent hematopoietic stem cell transplantation (HSCT), and four out of the seven patients had a poor response to medical treatment prior to HSCT, resulting in complete remission of both diseases.
CONCLUSION
Patients with intestinal BD-MDS frequently have refractory diseases with high mortalities. HSCT can be an effective treatment modality for medically refractory patients with intestinal BD-MDS.
Topics: Humans; Behcet Syndrome; Female; Myelodysplastic Syndromes; Male; Adult; Middle Aged; Retrospective Studies; Intestinal Diseases; Republic of Korea; Treatment Outcome; Trisomy; Prognosis; Chromosomes, Human, Pair 8
PubMed: 38653565
DOI: 10.3349/ymj.2023.0321 -
International Ophthalmology Apr 2024To review all studies reporting the onset of white dot syndromes following COVID-19 vaccines. (Review)
Review
PURPOSE
To review all studies reporting the onset of white dot syndromes following COVID-19 vaccines.
METHODS
Our protocol was registered prospectively on PROSPERO [registration number: CRD42023426012]. We searched five different databases including PubMed, Scopus, Web of Science, Google Scholar, and Science Direct up to May 2023. All the studies that reported the occurrence of white dot syndrome following COVID-19 vaccines were included. All statistical tests were conducted with a 95% confidence interval and a 5% error margin. A p value of less than 0.05 was considered statistically significant. The methodological quality of included studies was performed using the IHE Quality Appraisal Checklist for Case Series studies and JBI Critical Appraisal Checklist for Case Reports.
RESULTS
Fifty studies involving seventy-one subjects were included. Multiple evanescent white dot syndrome (MEWDS) was the most common disease (n = 25, 35.2% %), followed by acute macular neuroretinopathy (AMN) (n = 22, 31.0%) and acute posterior multifocal placoid pigment epitheliopathy (APMPPE) (n = 4, 5.6%). They were mostly unilateral (n = 50, 70.4%). The presenting symptoms were blurred vision (n = 26, 36.6%), paracentral scotoma (n = 19, 26.8%), visual field disturbance, and photopsia (n = 7, 9.9%). The mean duration for follow-up was 10.15 ± 14.04 weeks. Nineteen subjects (29.69%) received steroids with improvement reported in 68.4%. Eleven subjects (17.19%) were managed by observation only with reported full recovery and improvement.
CONCLUSION
White dot syndromes are very rare entities. Our findings highlight a possible association between COVID-19 vaccines and the occurrence of white dot syndromes. However, larger studies with good quality should be implemented to confirm these findings.
Topics: Humans; COVID-19; COVID-19 Vaccines; SARS-CoV-2; Tomography, Optical Coherence; White Dot Syndromes
PubMed: 38652153
DOI: 10.1007/s10792-024-03119-4 -
Acta Dermatovenerologica Croatica : ADC Dec 2023Vogt-Koyanagi-Harada (VKH) disease is a multisystem disorder characterized by bilateral granulomatous panuveitis resulting in serous retinal detachments, disk edema, and...
Vogt-Koyanagi-Harada (VKH) disease is a multisystem disorder characterized by bilateral granulomatous panuveitis resulting in serous retinal detachments, disk edema, and a sunset glow fundus development. Furthermore, it is associated with various extraocular findings, such as tinnitus, hearing loss, vertigo, poliosis, and vitiligo (1). VKH is considered to be an autoimmune disease mediated by T-cells targeting melanocyte antigen tyrosinase peptide (2). Moreover, VKH more often occurs in individuals with a genetic predisposition to the disease, including those of Asian and Hispanic heritage (3). Three disease categories have been recognized, including complete, incomplete, and probable VKH. Each category has different clinical features, varying from neurological and auditory manifestations to ophthalmologic and dermatologic findings (1). Herein, we present a case of chronic complete Vogt-Koyanagi-Harada disease, which started with vitiligo. CASE REPORT A forty-year-old female patient presented to the Department of Ophthalmology with photophobia, dull eye pain, and a gradual decrease in visual acuity over two months. In addition, at clinical examination, vitiligo spots were observed on the patient's hands and the periocular area. The patient's medical history revealed she had vitiligo from a young age. Additionally, she developed generalized epilepsy and headaches in adolescence. The neurologic symptoms had been treated, whereas dermatologic workup and treatment were never performed. It was also found that our patient was of Hispanic heritage, which later helped establish a diagnosis. Ophthalmologic examination revealed eye redness, hypotony, keratic precipitates, anterior chamber cells, and posterior synechiaes. Fundoscopy showed mild vitreous haze, optic disc and macular edema, chorioretinal thickening (also seen on eye ultrasound), and disturbance of retinal pigment epithelium (Figure 1). A standard diagnostic protocol for uveitis was performed. Serology for infectious causes was performed, and IgG for CMV and HSV 1 were positive. Tuberculosis testing was negative. HLA testing showed positive HLA-DR1, HLA B13/18, and HLA DQ-1 antigens. There were no cells in the intraocular fluid, and PCR of the fluid was negative for CMV and HSV 1 and 2. Considering the noninfectious uveitis, a history of neurological and dermatological disorders, and the Hispanic heritage of our patient, the diagnosis of Vogt-Koyanagi-Harada disease was established. Systemic methylprednisone in a 1.5 mg/kg dose was introduced during the first hospitalization. After slow tapering of the corticosteroid therapy, cyclosporine A in a 175 mg/day dose and azathioprine in a 100 mg/day dose were introduced for prolonged therapy. Although signs of eye inflammation were reduced, poor prognostic signs such as hypotony and optic disc edema were persistent. Therefore, the TNF-α inhibitor adalimumab was introduced. After the introduction of adalimumab, the disease was considered stable with no worsening of visual function, but vitiligo spots continued to progress (Figure 2). DISCUSSION Our case presents a chronic stage Vogt-Koyanagi-Harada disease in a person with a Hispanic heritage. VKH is a rare autoimmune disease that involves multiple organ systems, including the eyes, skin, and auditory and neurological systems. In the pathogenesis of the disease, there is an underlying granulomatous inflammation mediated by T-lymphocytes targeting melanocyte-specific antigens (4). Besides the immune response, genetics is an integral part of the etiology of the disease. HLA-DR1 and HLA-DR4 have been associated with VKH disease, specifically in the Hispanic and Asian populations (3,5). Other studies have found that VKH is more common in people of Asian and Hispanic heritage than in Caucasian or African-American individuals (6). In our case report, the Hispanic origin of our patient was essential for the diagnosis of the disease. There are four phases of VKH disease. The prodromal phase lasts a few days to a few weeks and is characterized by extraocular findings such as headache, vertigo, meningismus, and nausea (1). After the prodromal phase, the acute uveitic phase occurs, with sudden onset of blurred vision, conjunctival injection, and photophobia (1,7). Weeks to months after, the convalescent phase occurs, with signs of depigmentation such as vitiligo, poliosis, and vitiligo in the ocular limbal area, called the Sugiura sign. Finally, six to nine months after initial symptoms, the chronic recurrent phase occurs, leading to exacerbations of anterior uveitis (1). Even though most patients develop skin changes in the convalescent phase, our patients experienced skin depigmentation years before ocular involvement. VKH can be complete, incomplete, or probable. Our patient is an example of complete VKH, since she fulfilled all criteria for complete VKH, including 1) no history of penetrating ocular trauma or surgery, 2) no clinical or laboratory evidence of other ocular diseases, 3) bilateral ocular involvement, 4) neurological findings, and 5) integumentary findings (8). Treatment for VKH consists of high-dose systemic corticosteroids, administered orally or through intravenous delivery, followed by slow tapering of oral corticosteroids. Immunosuppressive therapy with cyclosporine and/or azathioprine is considered if the symptoms are persistent or worsening. In case of no improvement, biological agents such as infliximab and adalimumab are included (4).
Topics: Humans; Uveomeningoencephalitic Syndrome; Vitiligo; Female; Adult
PubMed: 38651852
DOI: No ID Found -
BMC Ophthalmology Apr 2024To determine the prevalence, clinical characteristics, and independent predictors of uveitic macular edema (UME) in patients with intermediate, posterior and panuveitis.
BACKGROUND
To determine the prevalence, clinical characteristics, and independent predictors of uveitic macular edema (UME) in patients with intermediate, posterior and panuveitis.
METHODS
We retrospectively reviewed the records of patients with intermediate, posterior, and panuveitis who underwent macular assessment using optical coherence tomography between January 2015 and February 2020. The prevalence of UME and clinical characteristics of the patients were described. Predictors of UME were identified using multivariate regression analysis.
RESULTS
A total of 349 patients were included. The mean age was 41 years, female: male ratio was 1.3:1. The prevalence of UME was 51.9%. UME was found in 33.9%, 56.9%, and 54.1% of the intermediate, posterior, and panuveitis cases, respectively. Among patients with UME, 47% had infectious uveitis, 32.6% had idiopathic uveitis, and 20.4% had immune-mediated uveitis. Diffuse macular edema was the most frequently observed pattern (36.5%). Multivariate analysis showed that factors independently associated with UME included age at uveitis onset (adjusted odds ratio [aOR] 1.01, 95% confidence interval [CI] 1.00-1.03, P = 0.036), PU and panuveitis compared with intermediate uveitis (aOR 2.09, 95% CI 1.14-3.86, P = 0.018), and infectious uveitis compared with noninfectious uveitis (aOR 2.13, 95% CI 1.34-3.37, P = 0.001).
CONCLUSIONS
Increasing age at uveitis onset, posterior/panuveitis, and infectious etiology are predictive factors for UME in patients with intermediate, posterior and panuveitis.
Topics: Humans; Retrospective Studies; Male; Female; Macular Edema; Adult; Prevalence; Tomography, Optical Coherence; Middle Aged; Uveitis; Visual Acuity; Risk Factors; Young Adult; Singapore
PubMed: 38649909
DOI: 10.1186/s12886-024-03447-0