Pub Date : 2025-10-26eCollection Date: 2025-01-01DOI: 10.1155/carm/4095365
Bassem Alhariri, Gaydaa Ali Ahmed Ali, Arwa Elfatih Mohamed Ali, Abdalrahman Mohammed Mostafa, Muhammad Sharif, Memon Noor Illahi
Clinical signs and symptoms of posterior reversible encephalopathy syndrome (PRES) include headache, altered mental state, vision loss, and seizures. Neuroradiological results exhibiting white matter abnormalities, primarily in the parieto-occipital areas of the brain, are linked to PRES. Hypertensive encephalopathy, eclampsia, renal failure, and immunosuppressive or anticancer treatment are the most common conditions associated with PRES. In the context of increasing renovascular hypertension resulting from bilateral atherosclerotic renal artery stenosis, we present a case with PRES coupled with severe hypertension. The patient's MRI brain showed extensive white matter changes consistent with the syndrome. The pathophysiology of PRES is examined, and the significance of an early diagnosis and course of therapy is underlined.
{"title":"Malignant Hypertension Complicated by Posterior Reversible Encephalopathy Syndrome (PRES).","authors":"Bassem Alhariri, Gaydaa Ali Ahmed Ali, Arwa Elfatih Mohamed Ali, Abdalrahman Mohammed Mostafa, Muhammad Sharif, Memon Noor Illahi","doi":"10.1155/carm/4095365","DOIUrl":"10.1155/carm/4095365","url":null,"abstract":"<p><p>Clinical signs and symptoms of posterior reversible encephalopathy syndrome (PRES) include headache, altered mental state, vision loss, and seizures. Neuroradiological results exhibiting white matter abnormalities, primarily in the parieto-occipital areas of the brain, are linked to PRES. Hypertensive encephalopathy, eclampsia, renal failure, and immunosuppressive or anticancer treatment are the most common conditions associated with PRES. In the context of increasing renovascular hypertension resulting from bilateral atherosclerotic renal artery stenosis, we present a case with PRES coupled with severe hypertension. The patient's MRI brain showed extensive white matter changes consistent with the syndrome. The pathophysiology of PRES is examined, and the significance of an early diagnosis and course of therapy is underlined.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"4095365"},"PeriodicalIF":0.7,"publicationDate":"2025-10-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12580033/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145437432","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}
Pub Date : 2025-10-24eCollection Date: 2025-01-01DOI: 10.1155/carm/5532765
Amal Miqdadi, Fahd Ghalim, Mohamed Reda Cherkaoui Jaouad, Abdennaceur El Idrissi Lamghari, Abderrahmane Al Bouzidi, Mohammed Herrag
The misuse of inhaled forms of corticosteroids may expose one to oesophageal candidiasis. In our case, the patient used to rinse his mouth with water and to swallow it after each inhalation of FP. Considering their lipophilic characteristic, the laboratories should manufacture a new efficacious hydrophilic inhaled corticosteroid.
{"title":"The Hidden Cost of Asthma Control: Esophageal Candidiasis Induced by Inhaled Corticosteroids.","authors":"Amal Miqdadi, Fahd Ghalim, Mohamed Reda Cherkaoui Jaouad, Abdennaceur El Idrissi Lamghari, Abderrahmane Al Bouzidi, Mohammed Herrag","doi":"10.1155/carm/5532765","DOIUrl":"10.1155/carm/5532765","url":null,"abstract":"<p><p>The misuse of inhaled forms of corticosteroids may expose one to oesophageal candidiasis. In our case, the patient used to rinse his mouth with water and to swallow it after each inhalation of FP. Considering their lipophilic characteristic, the laboratories should manufacture a new efficacious hydrophilic inhaled corticosteroid.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"5532765"},"PeriodicalIF":0.7,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12578559/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145430469","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}
Pub Date : 2025-10-24eCollection Date: 2025-01-01DOI: 10.1155/carm/9351610
Didar Yanardag Acik, Elif Suyani, Bilal Aygun
Dimethylsulfoxide (DMSO) is often used for freezing hematopoietic stem cells. DMSO is associated with mild side effects and rarely serious side effects such as anaphylaxis. We present a patient with acute anaphylaxis after DMSO and patient management.
{"title":"Dimethylsulfoxide-Associated Anaphylaxis in Autologous Stem Cell Transplantation: A Case Report.","authors":"Didar Yanardag Acik, Elif Suyani, Bilal Aygun","doi":"10.1155/carm/9351610","DOIUrl":"10.1155/carm/9351610","url":null,"abstract":"<p><p>Dimethylsulfoxide (DMSO) is often used for freezing hematopoietic stem cells. DMSO is associated with mild side effects and rarely serious side effects such as anaphylaxis. We present a patient with acute anaphylaxis after DMSO and patient management.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"9351610"},"PeriodicalIF":0.7,"publicationDate":"2025-10-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12578551/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145430485","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}
Pub Date : 2025-10-13eCollection Date: 2025-01-01DOI: 10.1155/carm/6694346
Elahe Nasri Nasrabadi, Keihan Golshani, Mehdi Nasr Isfahani
This report underscores the urgent necessity of early and accurate diagnosis in cases of aortic dissection (AD) with atypical presentations. A 76-year-old male presented to Al-Zahra Hospital in Isfahan, Iran, with a 7-day history of left flank pain radiating to the left testicle and groin, accompanied by fever, hematuria, and dysuria. Initial assessments, including a kidney and urinary tract ultrasound, revealed severe left kidney hydronephrosis and free fluid, leading to a preliminary diagnosis of pyelonephritis with a possible abscess. Broad-spectrum antibiotics were promptly administered. However, a subsequent CT scan revealed a retroperitoneal hematoma, prompting a CT angiography (CTA), which confirmed an abdominal AD. Despite rapid surgical intervention, the patient succumbed to cardiac arrest. This case highlights the critical importance of vigilance and thorough investigation in patients with atypical symptoms to prevent potentially fatal misdiagnoses.
{"title":"A Diagnostic Dilemma: Abdominal Aortic Dissection Masquerading as Pyelonephritis.","authors":"Elahe Nasri Nasrabadi, Keihan Golshani, Mehdi Nasr Isfahani","doi":"10.1155/carm/6694346","DOIUrl":"10.1155/carm/6694346","url":null,"abstract":"<p><p>This report underscores the urgent necessity of early and accurate diagnosis in cases of aortic dissection (AD) with atypical presentations. A 76-year-old male presented to Al-Zahra Hospital in Isfahan, Iran, with a 7-day history of left flank pain radiating to the left testicle and groin, accompanied by fever, hematuria, and dysuria. Initial assessments, including a kidney and urinary tract ultrasound, revealed severe left kidney hydronephrosis and free fluid, leading to a preliminary diagnosis of pyelonephritis with a possible abscess. Broad-spectrum antibiotics were promptly administered. However, a subsequent CT scan revealed a retroperitoneal hematoma, prompting a CT angiography (CTA), which confirmed an abdominal AD. Despite rapid surgical intervention, the patient succumbed to cardiac arrest. This case highlights the critical importance of vigilance and thorough investigation in patients with atypical symptoms to prevent potentially fatal misdiagnoses.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"6694346"},"PeriodicalIF":0.7,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12537154/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145343620","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}
Pub Date : 2025-10-13eCollection Date: 2025-01-01DOI: 10.1155/carm/2621540
Xinyu Fu, Miao Yan, Yuan Song, Wei Liang
Dermatomyositis is an autoimmune disease. Common treatment with glucocorticoids, immunoglobulins, methotrexate, and rituximab is recommended. Telitacicept is an immunosuppressant that has been approved for the treatment of systemic lupus erythematosus in recent years. Considering the mechanism of action of telitacicept and the pathogenesis of dermatomyositis, it is rational to suppose that telitacicept may be useful in treating dermatomyositis. Here, we describe a case of a 65-year-old male patient with erythema on the face and neck, limb weakness, and edema in both upper and lower limbs. After conventional treatment therapy plus telitacicept, the patient showed significant clinical remission during the maintenance treatment. Methylprednisolone was successfully reduced after injections of telitacicept. After 1 year of follow-up, the patient's clinical symptoms were improved dramatically. This is the first report indicating that telitacicept is effective for dermatomyositis and it deserves attention.
{"title":"Case Report: Successful Treatment of Dermatomyositis With Telitacicept.","authors":"Xinyu Fu, Miao Yan, Yuan Song, Wei Liang","doi":"10.1155/carm/2621540","DOIUrl":"10.1155/carm/2621540","url":null,"abstract":"<p><p>Dermatomyositis is an autoimmune disease. Common treatment with glucocorticoids, immunoglobulins, methotrexate, and rituximab is recommended. Telitacicept is an immunosuppressant that has been approved for the treatment of systemic lupus erythematosus in recent years. Considering the mechanism of action of telitacicept and the pathogenesis of dermatomyositis, it is rational to suppose that telitacicept may be useful in treating dermatomyositis. Here, we describe a case of a 65-year-old male patient with erythema on the face and neck, limb weakness, and edema in both upper and lower limbs. After conventional treatment therapy plus telitacicept, the patient showed significant clinical remission during the maintenance treatment. Methylprednisolone was successfully reduced after injections of telitacicept. After 1 year of follow-up, the patient's clinical symptoms were improved dramatically. This is the first report indicating that telitacicept is effective for dermatomyositis and it deserves attention.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"2621540"},"PeriodicalIF":0.7,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12537185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145343621","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}
Introduction: Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by multisystem involvement, with renal pathology, including end-stage renal disease, being a major cause of morbidity and mortality.
Case presentation: This case report presents a 14-year-old boy with BBS and end-stage renal disease who underwent a successful living donor kidney transplantation, marking the first reported case in Azerbaijan. Despite multiple comorbidities, including obesity, hypertension, and high panel reactive antibody levels, the patient achieved stable graft function with a rapid postoperative creatinine decline. Postoperative management focused on immunosuppression and lifestyle adjustments.
Conclusion: This case contributes to the limited literature on BBS, highlighting both the challenges and favorable outcomes of renal transplantation in patients with this rare genetic disorder.
{"title":"Renal Transplant in a Bardet-Biedl Syndrome Patient: A First Case From Azerbaijan.","authors":"Rashad Sholan, Rufat Aliyev, Nargiz Bakhshaliyeva, Anar Almazkhanli, Rahman Ismayilov, Malahat Sultan","doi":"10.1155/carm/1963624","DOIUrl":"10.1155/carm/1963624","url":null,"abstract":"<p><strong>Introduction: </strong>Bardet-Biedl syndrome (BBS) is a rare autosomal recessive ciliopathy characterized by multisystem involvement, with renal pathology, including end-stage renal disease, being a major cause of morbidity and mortality.</p><p><strong>Case presentation: </strong>This case report presents a 14-year-old boy with BBS and end-stage renal disease who underwent a successful living donor kidney transplantation, marking the first reported case in Azerbaijan. Despite multiple comorbidities, including obesity, hypertension, and high panel reactive antibody levels, the patient achieved stable graft function with a rapid postoperative creatinine decline. Postoperative management focused on immunosuppression and lifestyle adjustments.</p><p><strong>Conclusion: </strong>This case contributes to the limited literature on BBS, highlighting both the challenges and favorable outcomes of renal transplantation in patients with this rare genetic disorder.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"1963624"},"PeriodicalIF":0.7,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12537239/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145343622","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}
Pub Date : 2025-10-13eCollection Date: 2025-01-01DOI: 10.1155/carm/4695420
Mark A Colantonio, Bailey Hixon, Kevin Felpel, Md Shahrier Amin, Tahreem Ahmad
Drug-induced thrombotic microangiopathy is a rare cause of microangiopathic hemolytic anemia. Tacrolimus is a commonly used immunosuppressive agent postorgan transplant. Due to life-threatening complications associated with microangiopathic hemolytic anemia, it is essential to have a high clinical suspicion for this drug-induced microangiopathy. Here, we present a case of suspected drug-induced thrombotic microangiopathy secondary to long-term tacrolimus use. Although it is difficult to entirely exclude alternative causes of TMA when presented with this rare pathology, clinicians must remain vigilant of this association with tacrolimus use when there is a high suspicion for TMA. To date, few case reports have highlighted this association with chronic calcineurin use. Our case highlights the need for further research into this association.
{"title":"Thrombotic Microangiopathy (TMA) in a Heart Transplant Patient: A Complex Clinical-Pathologic Dilemma.","authors":"Mark A Colantonio, Bailey Hixon, Kevin Felpel, Md Shahrier Amin, Tahreem Ahmad","doi":"10.1155/carm/4695420","DOIUrl":"10.1155/carm/4695420","url":null,"abstract":"<p><p>Drug-induced thrombotic microangiopathy is a rare cause of microangiopathic hemolytic anemia. Tacrolimus is a commonly used immunosuppressive agent postorgan transplant. Due to life-threatening complications associated with microangiopathic hemolytic anemia, it is essential to have a high clinical suspicion for this drug-induced microangiopathy. Here, we present a case of suspected drug-induced thrombotic microangiopathy secondary to long-term tacrolimus use. Although it is difficult to entirely exclude alternative causes of TMA when presented with this rare pathology, clinicians must remain vigilant of this association with tacrolimus use when there is a high suspicion for TMA. To date, few case reports have highlighted this association with chronic calcineurin use. Our case highlights the need for further research into this association.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"4695420"},"PeriodicalIF":0.7,"publicationDate":"2025-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12537245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145343611","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}
Pub Date : 2025-10-06eCollection Date: 2025-01-01DOI: 10.1155/carm/6904355
Sara Heidari, Forough Kalantari, Elham Kalantari
Background: Pleural effusion (PE) is a frequent clinical condition with diverse etiologies including heart failure, infections, and malignancies. While the color of pleural fluid is rarely considered diagnostic, unusual discolorations may offer important clinical clues. We report what appears to be only the third documented case of purple PE (PPE) in the medical literature. This case was associated with Acinetobacter baumannii infection, a rarely reported cause of PPE, providing additional insight into its potential pathophysiology.
Case presentation: A 54 year-old obese male with multiple comorbidities-including COPD, heart failure, and recent pulmonary embolism-was admitted with acute respiratory failure. He was found to have a right-sided PE requiring drainage. Initial fluid analysis revealed an exudative, lymphocyte-predominant effusion with no evidence of infection. However, the fluid in the drainage bag gradually turned deep purple, and Acinetobacter baumannii was later isolated from the catheter and collection bag. The patient was treated with colistin and meropenem, with full clinical recovery and resolution of discoloration.
Discussion: Although the exact mechanism remains unclear, PPE may share pathophysiologic pathways with Purple Urine Bag Syndrome, involving bacterial metabolism of tryptophan-derived compounds. This case highlights the importance of visual inspection of pleural fluid and emphasizes that unusual discoloration-while not diagnostic in itself-should prompt thorough microbiological and biochemical evaluation.
Key clinical message: Unusual pleural fluid discoloration should prompt immediate microbiological evaluation, as it may indicate infection with uncommon or multidrug-resistant organisms, even in the absence of typical infection signs.
{"title":"Purple Pleural Effusion due to <i>Acinetobacter baumannii</i> Infection: A Rare Case Report.","authors":"Sara Heidari, Forough Kalantari, Elham Kalantari","doi":"10.1155/carm/6904355","DOIUrl":"10.1155/carm/6904355","url":null,"abstract":"<p><strong>Background: </strong>Pleural effusion (PE) is a frequent clinical condition with diverse etiologies including heart failure, infections, and malignancies. While the color of pleural fluid is rarely considered diagnostic, unusual discolorations may offer important clinical clues. We report what appears to be only the third documented case of purple PE (PPE) in the medical literature. This case was associated with <i>Acinetobacter baumannii</i> infection, a rarely reported cause of PPE, providing additional insight into its potential pathophysiology.</p><p><strong>Case presentation: </strong>A 54 year-old obese male with multiple comorbidities-including COPD, heart failure, and recent pulmonary embolism-was admitted with acute respiratory failure. He was found to have a right-sided PE requiring drainage. Initial fluid analysis revealed an exudative, lymphocyte-predominant effusion with no evidence of infection. However, the fluid in the drainage bag gradually turned deep purple, and <i>Acinetobacter baumannii</i> was later isolated from the catheter and collection bag. The patient was treated with colistin and meropenem, with full clinical recovery and resolution of discoloration.</p><p><strong>Discussion: </strong>Although the exact mechanism remains unclear, PPE may share pathophysiologic pathways with Purple Urine Bag Syndrome, involving bacterial metabolism of tryptophan-derived compounds. This case highlights the importance of visual inspection of pleural fluid and emphasizes that unusual discoloration-while not diagnostic in itself-should prompt thorough microbiological and biochemical evaluation.</p><p><strong>Key clinical message: </strong>Unusual pleural fluid discoloration should prompt immediate microbiological evaluation, as it may indicate infection with uncommon or multidrug-resistant organisms, even in the absence of typical infection signs.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"6904355"},"PeriodicalIF":0.7,"publicationDate":"2025-10-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12517993/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145291283","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}
Pub Date : 2025-10-03eCollection Date: 2025-01-01DOI: 10.1155/carm/6611725
Montaser Elkholy, Naisargee Solanki, Mohamed Abdelazeem, Zijin Lin, Yasemin Bahar, Zain U L Abideen Asad, M Chadi Alraies
Head and neck tumors can rarely cause carotid sinus syndrome (CSS), a condition characterized by bradycardia, hypotension, and syncope. A 68-year-old male with advanced laryngeal cancer presented with syncope. Examination revealed a fixed 5 cm submandibular mass. Computed tomography angiography (CTA) neck showed a large mass encasing the carotid arteries. During the hospital stay, the patient experienced recurrent bradycardia and hypotension, which were resolved when his neck was turned to the left. Diagnosis of mixed-subtype CSS secondary to tumor compression was assumed. Blood tests, EKG, and CT imaging ruled out other causes. The tumor's encasement of the carotid arteries likely triggered the carotid sinus reflex during head movement. Both cardioinhibitory and vasodepressor components were present, suggesting a mixed subtype of CSS. CSS should be considered in patients with head and neck cancer, presenting with unexplained bradycardia or hypotension. Multidisciplinary management is the key to accurate diagnosis and treatment.
{"title":"Mixed-Type Carotid Sinus Syndrome in a Patient With Advanced Laryngeal Cancer: A Case Report.","authors":"Montaser Elkholy, Naisargee Solanki, Mohamed Abdelazeem, Zijin Lin, Yasemin Bahar, Zain U L Abideen Asad, M Chadi Alraies","doi":"10.1155/carm/6611725","DOIUrl":"10.1155/carm/6611725","url":null,"abstract":"<p><p>Head and neck tumors can rarely cause carotid sinus syndrome (CSS), a condition characterized by bradycardia, hypotension, and syncope. A 68-year-old male with advanced laryngeal cancer presented with syncope. Examination revealed a fixed 5 cm submandibular mass. Computed tomography angiography (CTA) neck showed a large mass encasing the carotid arteries. During the hospital stay, the patient experienced recurrent bradycardia and hypotension, which were resolved when his neck was turned to the left. Diagnosis of mixed-subtype CSS secondary to tumor compression was assumed. Blood tests, EKG, and CT imaging ruled out other causes. The tumor's encasement of the carotid arteries likely triggered the carotid sinus reflex during head movement. Both cardioinhibitory and vasodepressor components were present, suggesting a mixed subtype of CSS. CSS should be considered in patients with head and neck cancer, presenting with unexplained bradycardia or hypotension. Multidisciplinary management is the key to accurate diagnosis and treatment.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"6611725"},"PeriodicalIF":0.7,"publicationDate":"2025-10-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12513768/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145278925","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}
Pub Date : 2025-10-01eCollection Date: 2025-01-01DOI: 10.1155/carm/2255274
Babak Bagheri, Fatemeh Shokri, Amir Hasan Farzaneh
Background: Homozygous familial hypercholesterolemia (HoFH) is a rare, autosomal dominant disorder characterized by severely elevated low-density lipoprotein cholesterol (LDL-C), leading to premature cardiovascular disease. Early diagnosis is critical but often delayed due to limited access to genetic testing, particularly in regions with high consanguinity.
Case presentation: A 23-year-old Persian woman, born to consanguineous parents, presented with tendon and cutaneous xanthomas, bilateral corneal arcus, and hand deformities resembling rheumatoid arthritis. Her medical history included childhood hypercholesterolemia, and her family history revealed premature myocardial infarction in her mother. Laboratory results showed markedly elevated LDL-C (509 mg/dL). Diagnosis was confirmed clinically using Dutch Lipid Clinic Network and Simon Broome criteria, as genetic testing was unavailable.
Interventions and outcomes: Initial therapy with rosuvastatin (40 mg) and ezetimibe (10 mg) failed to achieve LDL-C targets. Evolocumab (420 mg monthly) was added, resulting in an 82% reduction in LDL-C (from 509 to 89 mg/dL) and partial regression of xanthomas.
Conclusion: This case highlights the diagnostic challenges of HoFH in resource-limited settings and underscores the importance of clinical criteria when genetic testing is inaccessible. Aggressive lipid-lowering therapy, including PCSK9 inhibitors, is essential for managing HoFH and mitigating cardiovascular risk. Early recognition of physical signs (e.g., xanthomas and corneal arcus) and family screening are crucial for timely intervention.
{"title":"Corneal Arcus, Xanthomas, and Finger Deformities in a Young Woman With Homozygous Familial Hypercholesterolemia.","authors":"Babak Bagheri, Fatemeh Shokri, Amir Hasan Farzaneh","doi":"10.1155/carm/2255274","DOIUrl":"10.1155/carm/2255274","url":null,"abstract":"<p><strong>Background: </strong>Homozygous familial hypercholesterolemia (HoFH) is a rare, autosomal dominant disorder characterized by severely elevated low-density lipoprotein cholesterol (LDL-C), leading to premature cardiovascular disease. Early diagnosis is critical but often delayed due to limited access to genetic testing, particularly in regions with high consanguinity.</p><p><strong>Case presentation: </strong>A 23-year-old Persian woman, born to consanguineous parents, presented with tendon and cutaneous xanthomas, bilateral corneal arcus, and hand deformities resembling rheumatoid arthritis. Her medical history included childhood hypercholesterolemia, and her family history revealed premature myocardial infarction in her mother. Laboratory results showed markedly elevated LDL-C (509 mg/dL). Diagnosis was confirmed clinically using Dutch Lipid Clinic Network and Simon Broome criteria, as genetic testing was unavailable.</p><p><strong>Interventions and outcomes: </strong>Initial therapy with rosuvastatin (40 mg) and ezetimibe (10 mg) failed to achieve LDL-C targets. Evolocumab (420 mg monthly) was added, resulting in an 82% reduction in LDL-C (from 509 to 89 mg/dL) and partial regression of xanthomas.</p><p><strong>Conclusion: </strong>This case highlights the diagnostic challenges of HoFH in resource-limited settings and underscores the importance of clinical criteria when genetic testing is inaccessible. Aggressive lipid-lowering therapy, including PCSK9 inhibitors, is essential for managing HoFH and mitigating cardiovascular risk. Early recognition of physical signs (e.g., xanthomas and corneal arcus) and family screening are crucial for timely intervention.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"2255274"},"PeriodicalIF":0.7,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12507493/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145257483","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}