Case Reports in Medicine最新文献

{"title":"Anophthalmia Plus Syndrome: A Case Report of Severe Ocular and Systemic Anomalies in a Neonate.","authors":"Zainab Abushgair, Khayry Al-Shami, Ziad Haddad, Falah Qudah, Mohammad Al Maghayreh, Mahdi Alshboul, Yahia Ranjous","doi":"10.1155/carm/2780074","DOIUrl":"https://doi.org/10.1155/carm/2780074","url":null,"abstract":"<p><p>Anophthalmia is a severe congenital ocular malformation characterized by the complete absence of one or both eyes, distinct from microphthalmia, in which the eye is significantly underdeveloped. This case report details a male infant born at 37 weeks of gestation via cesarean section because of a transverse lie and placental abruption, with low birth weight (2100 g), who presented with multiple congenital anomalies including cleft lip and palate, right ear malformation, and severe ocular defects. Despite a prenatal course with limited risk factors and no family history of ocular diseases, postnatal examinations revealed microcornea, microphthalmia, and the absence of the left globe, replaced by cystic tissue. Additional findings included a heart murmur, decreased white matter density on brain ultrasound, and micrognathia. The infant, who developed disseminated intravascular coagulation (DIC) secondary to sepsis, passed away at 21 days of age. This case underscores the complexity of managing anophthalmia, especially when associated with other systemic anomalies, highlighting the need for a multidisciplinary approach, comprehensive genetic evaluation, and supportive care. The unpredictable nature of such anomalies and the limitations of current prenatal care underscore the need for ongoing research and improved diagnostic strategies.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"2780074"},"PeriodicalIF":1.0,"publicationDate":"2026-09-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13579240/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148988234","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"\"Severe Aortic Regurgitation as the Initial Manifestation of Takayasu Arteritis in a Young Woman: A Case Report\".","authors":"Amir Heidari, Azar Nejati, S Enssieh Hashemi, Mohammad Javad Bahadori, Golnaz Houshmand, Amin Fath Tabar","doi":"10.1155/carm/5542781","DOIUrl":"10.1155/carm/5542781","url":null,"abstract":"<p><p>Takayasu arteritis (TAK) is a rare large-vessel vasculitis primarily affecting young women, characterized by idiopathic inflammation of the aorta and its major branches. While aortic regurgitation (AR) is a recognized complication, it typically occurs in advanced disease stages. Isolated severe AR as the initial manifestation is exceptionally uncommon and poses diagnostic challenges. We present a 39-year-old woman with no prior medical history who presented with progressive exertional dyspnea (NYHA Class II) and exertional chest pain. Physical examination revealed absent upper limb pulses, unmeasurable brachial blood pressure, and a diastolic murmur. Transthoracic echocardiography demonstrated severe AR with left ventricular dysfunction (EF 48%). CT and MR angiography confirmed circumferential aortic wall thickening, subclavian artery occlusions, and ostial right coronary artery stenosis. Elevated inflammatory markers (ESR and CRP) and vascular imaging findings established the diagnosis of TAK based on the 1996 Modified Ishikawa Criteria. Initial treatment included high-dose glucocorticoids and methotrexate for disease control. Due to persistent severe AR, the patient underwent successful mechanical aortic valve replacement. Postoperative recovery was uncomplicated, with significant clinical improvement at 1-year follow-up and no disease recurrence. This case illustrates that severe AR can rarely serve as the initial manifestation of TAK, emphasizing the importance of considering large-vessel vasculitis in young patients with unexplained valvulopathy and systemic inflammation. Early diagnosis, combined medical-surgical management, and careful long-term monitoring are essential for optimizing outcomes in this high-risk population.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"5542781"},"PeriodicalIF":1.0,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13575784/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148975781","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Perianal Hidradenoma Papilliferum Mimicking a Chronic Hemorrhoid: A Case Report.","authors":"Cesar Ramon Razuri Bustamante, Sofía Leonor Prado Cucho, Laura Elizabeth Quiñones Valverde, Angel Luigui Hurtado Vila, Alexis Narvaez Rojas, Gabriel De La Cruz Ku","doi":"10.1155/carm/6733314","DOIUrl":"10.1155/carm/6733314","url":null,"abstract":"<p><p>Hidradenoma papilliferum (HP) is a rare, benign neoplasm classically originating from apocrine or mammary-like glands. While predominantly presenting in the vulvar region, its occurrence in the perianal location is exceptionally rare and frequently misdiagnosed as hemorrhoidal disease or other localized benign lesions. We present the case of a 50-year-old female patient reporting acute perianal pain following defecation straining, accompanied by the sensation of an asymptomatic perianal mass present for three years. Clinical examination identified a 1.5 cm well-circumscribed, reddish-brown nodule at the anal verge. Excisional biopsy was performed under local anesthesia with 1 cm margins, allowing the wound to heal by secondary intention. Histopathological evaluation confirmed perianal HP, characterized by an arboriform papillary architecture, a double-layered epithelium, and classic apocrine decapitation secretion without cytological atypia. Complete surgical excision remains the definitive, curative treatment. This case highlights the absolute necessity of histopathological evaluation for atypical, therapy-resistant perianal lesions to avoid diagnostic anchoring and to definitively rule out malignancy.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"6733314"},"PeriodicalIF":1.0,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13575778/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148975772","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Controlled Heel-Site Arteriovenous Vent via Venous Reimplantation on PTFE-Tibial Bypass: A Novel Adjunct in No-Vein Chronic Limb-Threatening Ischemia.","authors":"Francesco Spinelli, Nunzio Montelione, Mario Malangone, Vincenzo Catanese, Julia Paolini, Francesco Stilo","doi":"10.1155/carm/2506957","DOIUrl":"10.1155/carm/2506957","url":null,"abstract":"<p><strong>Background: </strong>In no-vein chronic limb-threatening ischemia (CLTI), infrapopliteal prosthetic bypass remains a limb-salvage option but is limited by high distal resistance and graft-artery compliance mismatch. Standard distal adjuncts, including vein cuffs, patches, or distal arteriovenous fistulas, may be technically demanding when local tibial venous anatomy and the confined distal exposure do not allow a reliable conventional configuration. We describe a compact heel-site bypass-to-vein vent based on direct end-to-side venous reimplantation onto the PTFE graft immediately proximal to the arterial heel.</p><p><strong>Case presentation: </strong>A controlled heel-site arteriovenous vent was created immediately proximal to the arterial heel of a distal polytetrafluoroethylene (PTFE)-anterior tibial artery (ATA) anastomosis in a 75-year-old man with recurrent CLTI, prior failed revascularizations, no usable autologous conduit, and single-vessel tibial runoff through the ATA. Intraoperative assessment showed paired deep veins accompanying the ATA of approximately 2.0-2.5 mm in external diameter with thin walls, making a conventional distal AVF/interposition configuration technically unfavorable. A calibrated oval venotomy was fashioned on the distal PTFE graft, and the proximal stump of the anterior tibial vein was reimplanted end-to-side onto the graft with an oblique takeoff to create a short, controllable bypass-to-vein vent.</p><p><strong>Results: </strong>Postoperative computed-tomography angiography and serial duplex ultrasound surveillance demonstrated sustained patency of both the PTFE-ATA bypass and the heel-site vent, without hemodynamically significant stenosis, excessive shunting, venous hypertension, distal steal, graft thrombosis, or reintervention at 6 months. Rest pain resolved, and baseline ambulation was restored.</p><p><strong>Conclusions: </strong>This heel-site arteriovenous vent represents a compact, calibratable bypass-to-vein configuration that differs from conventional distal AVF adjuncts by using direct end-to-side venous reimplantation onto the PTFE graft immediately proximal to the arterial heel. Because established distal AVF and vein-cuff adjuncts are supported by a stronger evidence base, this configuration should be considered only as a fallback/adaptive option in selected no-vein CLTI scenarios when standard distal adjuncts are technically infeasible.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"2506957"},"PeriodicalIF":1.0,"publicationDate":"2026-09-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13575779/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148975749","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Pernicious Anemia: A Rare Case of Vitamin B12 Deficiency With Hyperpigmentation and Pancytopenia.","authors":"Emmanuel Jojo Aryee, Helen Agyei-Yeboah","doi":"10.1155/carm/1262770","DOIUrl":"10.1155/carm/1262770","url":null,"abstract":"<p><p>The clinical mimicry of vitamin B12 deficiency can often delay its recognition and treatment. Pernicious anemia remains among its major clinical causes. We report the case of a 32-year-old male who presented with symptoms of progressive darkened skin, fatigue, general weakness, and neurological symptoms, with examination notable of severe conjunctival pallor and prominent hyperpigmentation of the buccal mucosa, hands, and feet. Investigations revealed pancytopenia with critically low serum vitamin B12. The presence of serum intrinsic factor antibodies confirmed the diagnosis of pernicious anemia. Parenteral vitamin B12 supplementation resulted in rapid hematological improvement and resolution of hyperpigmentation. This case underscores that hyperpigmentation, pancytopenia, and neurological symptoms should prompt a higher index of suspicion for vitamin B12 deficiency to prevent severe hematologic and neurologic complications with closer attention given to follow-up.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"1262770"},"PeriodicalIF":1.0,"publicationDate":"2026-09-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13551347/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148910406","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Coinfection of Leprosy and American Cutaneous Leishmaniasis: A Case Report From Ceará, Brazil.","authors":"Moacir Pereira Leite Neto, Jordannia Oliveira Fernandes, Ana Carolina Carvalho Ferraz, Julia Graziele Alves Marelli, Marcos Antônio Pereira de Lima, Cláudio Gleidiston Lima da Silva, Ligia Regina Franco Sansigolo Kerr, Ricardo Queiroz Gurgel","doi":"10.1155/carm/3062648","DOIUrl":"10.1155/carm/3062648","url":null,"abstract":"<p><p>Leprosy and American cutaneous leishmaniasis are endemic diseases in Brazil that may coexist in the same host, particularly in coendemic regions. We report the case of a 68-year-old woman presenting with a six-month history of an ulcerated lesion on the left knee and concomitant disseminated annular plaques associated with sensory loss, madarosis, and peripheral nerve thickening. Histopathological examination of the ulcer demonstrated findings compatible with cutaneous leishmaniasis; immunohistochemistry using CD1a highlighted structures compatible with amastigotes, acknowledging its limitations. Biopsy of the plaques revealed a chronic granulomatous dermatitis with numerous acid-fast bacilli, corroborating multibacillary leprosy in the appropriate clinical context. The patient was treated with multidrug therapy for leprosy and intralesional meglumine antimoniate for leishmaniasis, with favorable outcomes. To the best of our knowledge, this is the first published report of such coinfection in Ceará. This case highlights the importance of sampling lesions with distinct morphologies and integrating clinical, histopathological, and laboratory findings in endemic settings.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"3062648"},"PeriodicalIF":1.0,"publicationDate":"2026-09-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13547950/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148905192","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Immune-Related Cystitis Following Immune Checkpoint Inhibitor Therapy: A Report of Two Cases.","authors":"Chuanren Zhao, Yang Ge, Xiaojing Zhang","doi":"10.1155/carm/7432835","DOIUrl":"10.1155/carm/7432835","url":null,"abstract":"<p><p>In recent years, immune checkpoint inhibitors (ICIs) have transformed the treatment landscape for a variety of cancers, yet they are associated with immune-related adverse events (irAEs). Although irAEs commonly affect the skin, gastrointestinal tract, lungs, and endocrine glands, immune-related cystitis and ureteritis are extremely rare and often overlooked. We report on two patients who developed immune-mediated ureteritis and cystitis following treatment with PD-1 inhibitors (tislelizumab and toripalimab). Both patients exhibited urinary frequency, urgency, dysuria, and hematuria without evidence of infection and were unresponsive to empirical antibiotics. Imaging results, combined with clinical symptoms, confirmed the diagnosis of urinary tract irAEs. Symptoms improved markedly following systemic glucocorticoid therapy. Through case analysis and a targeted literature review, we have summarized diagnostic indicators, therapeutic principles, and steroid tapering strategies for managing ICI-associated urinary irAEs. We emphasize the importance of early recognition and standardized management to prevent permanent damage and offer practical guidance for clinicians dealing with these uncommon but clinically significant toxicities.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"7432835"},"PeriodicalIF":1.0,"publicationDate":"2026-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13531008/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148872800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Successful Management of a Massive Second-Trimester Subchorionic Hematoma: A Case Report.","authors":"Jianfa Wu, Huang Chen, Qianyi Liao, Yanmei Zhu, Yao Jiang, Zhou Liu","doi":"10.1155/carm/6154618","DOIUrl":"10.1155/carm/6154618","url":null,"abstract":"<p><p>A massive subchorionic hematoma is associated with an increased risk of adverse pregnancy outcomes, including spontaneous abortion, preterm birth, and intrauterine fetal demise. However, current clinical guidelines lack standardized diagnostic criteria and evidence-based management recommendations for massive subchorionic hematomas, particularly during the second trimester. A 34-year-old pregnant woman at 12 weeks and 6 days' gestation presented with acute-onset vaginal bleeding of 1-h duration. Color Doppler ultrasonography revealed an anteriorly located placenta and identified a hypoechoic, well-defined subchorionic collection measuring 109 × 41² mm beneath the chorionic plate of the gestational sac, which was considered a massive subchorionic hematoma at the second trimester. Following written informed consent, intramuscular progesterone was administered to suppress uterine activity, and intravenous cefuroxime was initiated for prophylaxis against infection. Serial monitoring of maternal hemoglobin concentration and subchorionic hematoma dimensions was performed. Following more than 3 months of active fetal surveillance and supportive obstetric management, the patient remained clinically stable. The subchorionic hematoma resolved completely by 28 weeks and 3 days' gestation, and a viable female neonate was delivered by cesarean section at 39 weeks and 1 day's gestation. In conclusion, this study provides a detailed, real-world example of managing a high-risk, massive subchorionic hematoma in the absence of standardized guidelines, which lays a practical foundation for future research.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"6154618"},"PeriodicalIF":1.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13530397/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148872742","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Deceptively Challenging Airway Management in a CHARGE Syndrome Patient Despite Careful Preoperative Anticipation: A Case Report.","authors":"Masoud Nashibi, Seyedeh Fatemeh Hamzavi, Sogol Asgari","doi":"10.1155/carm/2029479","DOIUrl":"10.1155/carm/2029479","url":null,"abstract":"<p><p>Difficult intubation is a critical challenge in anesthesia, often linked to anatomical abnormalities. CHARGE syndrome patients are known for airway difficulties due to craniofacial anomalies, yet some cases may present without obvious anatomical predictors. We report the case of an 8-year-old girl with CHARGE syndrome undergoing surgery for choanal atresia. Despite a history of multiple previous surgeries without reported intubation difficulties, she experienced difficult intubation despite the absence of classical anatomical predictors. Standard direct laryngoscopy attempts failed two times, necessitating the use of video laryngoscopy for successful intubation. Preoperative imaging revealed nasal obstruction and severe septal deviation but no significant craniofacial abnormalities that could predict intubation difficulty. This case highlights the unpredictable nature of difficult intubation in CHARGE syndrome, even in patients without apparent anatomical risk factors. The underlying cause remained unclear, suggesting the possibility of subtle airway anomalies or dynamic factors during intubation. The successful use of video laryngoscopy underscores its value in managing difficult airways in such cases. Clinicians should maintain a high index of suspicion for difficult airway management in CHARGE syndrome patients, even in the absence of overt anatomical abnormalities. Preoperative planning should include preparation for advanced airway techniques such as video laryngoscopy to improve patient safety and outcomes.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"2029479"},"PeriodicalIF":1.0,"publicationDate":"2026-08-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13530405/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148872776","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Adult-Onset IgA Vasculitis in Early Pregnancy Following Rhinovirus/Enterovirus and Streptococcal Infection: A Case Report and Review of Literature.","authors":"Isaac Kah Siang Ng, Charisse Wan Ning Loh, Wilson Guo Wei Goh, Elaine Ah Gi Lo, Kee Fong Phang, Jiacai Cho, Kong Bing Tan, May Shuen Tang","doi":"10.1155/carm/1612186","DOIUrl":"10.1155/carm/1612186","url":null,"abstract":"<p><p>IgA vasculitis (IgAV) is an immune complex-mediated systemic small-vessel vasculitis that is mostly seen in children and triggered by respiratory or gastrointestinal tract infections. Rarely, it may occur in adults, with rare cases developing during pregnancy. We herein described a unique case of a young lady who developed skin rashes and inflammatory joint pains secondary to IgAV preceded by two bouts of respiratory tract infection (<i>Streptococcal</i> throat infection and rhinovirus/enterovirus infection). She was also found to be in early pregnancy (2 weeks gestational age) at onset of IgAV. She was subsequently managed carefully by the rheumatologist and obstetrician with a tapering course of corticosteroid monotherapy without initiation of steroid-sparing immunosuppressant. This case highlights the unique entity of managing adult IgAV in pregnancy, for which therapeutic considerations require balancing the degree of immunosuppression and the need to avoid active rheumatic disease which both pose significant risks in pregnancy.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"1612186"},"PeriodicalIF":1.0,"publicationDate":"2026-08-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13519519/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148839209","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}