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Chronic Lithium-Induced Cardiotoxicity: A Case Report and Lessons for Clinical Practice. 慢性锂致心脏毒性:1例报告及临床实践经验。
IF 0.8
Case Reports in Medicine Pub Date : 2025-06-26 eCollection Date: 2025-01-01 DOI: 10.1155/carm/5599471
Amir Heidari, Nafise Mohamadizade, Arman Hasanzade, Morteza Fazlekhoda
{"title":"Chronic Lithium-Induced Cardiotoxicity: A Case Report and Lessons for Clinical Practice.","authors":"Amir Heidari, Nafise Mohamadizade, Arman Hasanzade, Morteza Fazlekhoda","doi":"10.1155/carm/5599471","DOIUrl":"10.1155/carm/5599471","url":null,"abstract":"<p><p><b>Background:</b> Lithium, commonly used in the treatment of bipolar disorders, is primarily known for causing neurological and renal side effects. However, cardiac side effects are rarely reported. <b>Case Summary:</b> We present a case of chronic lithium toxicity in an 80-year-old woman. The patient was admitted to the emergency room due to loss of consciousness. Initial evaluation revealed severe sinus bradycardia as a presentation of sinus node dysfunction on the electrocardiogram, prompting the insertion of a pacemaker. During her admission to the critical care unit, it was discovered that the patient had been undergoing long-term lithium treatment without medical supervision. The serum lithium level confirmed lithium intoxication. Following the discontinuation of lithium, both neurological and cardiac manifestations of lithium toxicity resolved. After the pacemaker was removed, the patient was discharged in stable condition. <b>Discussion:</b> Lithium has a narrow therapeutic range, which can lead to toxicity in the absence of routine monitoring. Lithium toxicity can cause serious cardiac effects and rhythm disturbances that are often overlooked because these manifestations are rare. Cardiac manifestations include arrhythmias, bradycardia, collapse, hypotension, myocardial infarction, and even death. Additionally, lithium toxicity can present with various electrocardiographic abnormalities such as T-wave inversion, sinoatrial block, PR interval prolongation, QT prolongation/dispersion, and ventricular tachyarrhythmias. Clinicians should be aware of the potential cardiac effects of lithium toxicity and consider it in patients undergoing lithium treatment. A thorough understanding of these manifestations is essential, as the wide range of symptoms can be misleading without adequate knowledge.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"5599471"},"PeriodicalIF":0.8,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12226198/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144574901","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}
引用次数: 0
Fixation of Flowable Composite Resin Within Crossing Sutures for the Closure of Oroantral Communications: Two Clinical Cases and Literature Review. 可流动复合树脂在交叉缝线内固定用于口窦交通封闭:2例临床病例及文献复习。
IF 0.8
Case Reports in Medicine Pub Date : 2025-06-26 eCollection Date: 2025-01-01 DOI: 10.1155/carm/9968600
Aibek A Sissenaliyev, Madina A Kurmanalina, Aruzhan M Aitmukhanbetova
{"title":"Fixation of Flowable Composite Resin Within Crossing Sutures for the Closure of Oroantral Communications: Two Clinical Cases and Literature Review.","authors":"Aibek A Sissenaliyev, Madina A Kurmanalina, Aruzhan M Aitmukhanbetova","doi":"10.1155/carm/9968600","DOIUrl":"10.1155/carm/9968600","url":null,"abstract":"<p><p><b>Background:</b> Oroantral communications (OACs) are pathological openings between the oral cavity and the maxillary sinus, often resulting from dental extractions. If not treated promptly, they may lead to sinus infections and persistent oroantral fistulas (OAFs). <b>Objective:</b> This report aims to present a minimally invasive technique for the closure of OACs using flowable composite resin stabilized within a network of crossing sutures and to assess its clinical efficacy. <b>Case Descriptions:</b> Two male patients, aged 27 and 31, presented with OACs measuring 8 mm and 6 mm in diameter following maxillary molar extractions. Both cases were managed within 24-48 h postextraction. <b>Intervention:</b> Under local anesthesia, the extraction sockets were sutured using absorbable threads, creating a cross-matrix over the alveolus. Flowable composite resin was then applied into and over this suture network to form a sealing layer. The material was light-cured, and a secondary application was performed following socket curettage to promote stable blood clot formation. In this technique, the flowable composite is mechanically stabilized within the network of crossing sutures, which enhances the retention of the material, ensures effective sealing of the OAC, and supports a more predictable and secured healing process. <b>Outcomes:</b> In both cases, healing was uneventful, with complete closure of the OAC and no signs of sinusitis or fistula formation. Follow-up at 8 and 9 months confirmed successful mucosal healing and radiographic bone regeneration. <b>Conclusion:</b> The fixation of flowable composite within a suture matrix offers a novel, cost-effective, and reproducible technique for the immediate closure of small-to-moderate OACs. This approach enhances mechanical stability, improves sealing, and facilitates predictable healing while avoiding more invasive surgical interventions.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"9968600"},"PeriodicalIF":0.8,"publicationDate":"2025-06-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12226162/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144559307","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}
引用次数: 0
Mad Honey Disease: A Rare Condition in an Unlikely Locale. 疯狂的蜂蜜病:在一个不太可能的地方罕见的条件。
IF 0.8
Case Reports in Medicine Pub Date : 2025-06-25 eCollection Date: 2025-01-01 DOI: 10.1155/carm/2632633
Sheikh W Jamal, Eyad Elamir, Shybin Usman, Harris Poolakundan, Maryam Almahri, Adnan Abdul Khaleq, Zidan Darwish, Eithar Musa, Anas Zayad, Bassem Al Hariri
{"title":"Mad Honey Disease: A Rare Condition in an Unlikely Locale.","authors":"Sheikh W Jamal, Eyad Elamir, Shybin Usman, Harris Poolakundan, Maryam Almahri, Adnan Abdul Khaleq, Zidan Darwish, Eithar Musa, Anas Zayad, Bassem Al Hariri","doi":"10.1155/carm/2632633","DOIUrl":"10.1155/carm/2632633","url":null,"abstract":"<p><p><b>Background and Aims/Introduction:</b> Mad honey disease is caused by consuming honey containing grayanotoxanes-neurotoxins found in certain species of <i>Rhododendron</i> plants. Mad honey, derived from the nectar of these plants, can cause significant cardiovascular and neurological symptoms. While most cases are reported in regions where it is produced, extensive travel among diverse expatriate communities in various global regions is one of the factors that may contribute to cases occurring in nonendemic areas. Other factors leading to its increased demand include the global demand for its recreational and medicinal use, as well as its reputation as an aphrodisiac. Our case report on mad honey disease aims to raise awareness of this condition, highlight its clinical presentation and management, and emphasize the possibility of its occurrence outside endemic regions. <b>Case Presentation:</b> A 40-year-old Nepalese male living in Qatar presented with dizziness, hypotension, and severe bradycardia a few hours after consuming approximately 50 g of imported mad honey from Nepal. His admission ECG revealed sinus bradycardia without evidence of heart block. Initial stabilization was achieved with 0.5 mg of atropine and a norepinephrine infusion. The patient's symptoms resolved with supportive care while he was closely observed in the intensive care unit. He was discharged symptom free after 24 h. <b>Conclusion:</b> This case, to the best of our knowledge, represents the first reported incidence of mad honey disease in Qatar, emphasizing the importance of recognizing this rare condition in nonendemic areas. Proper history-taking, particularly with a focus on food and ingestion history, along with a high index of clinical suspicion, is crucial for timely diagnosis and management. While unintentional and accidental overdose and poisoning, as occurred in our case, may happen sporadically, the widespread use and import/export of mad honey necessitates stringent measures and precautions, similar to those adopted by various countries.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"2632633"},"PeriodicalIF":0.8,"publicationDate":"2025-06-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12221553/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144552423","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}
引用次数: 0
Forgotten Deficiency: A Case Series Highlighting Atypical Presentations of Scurvy in the 21st Century. 被遗忘的缺陷:一个突出21世纪坏血病非典型表现的病例系列。
IF 0.8
Case Reports in Medicine Pub Date : 2025-06-23 eCollection Date: 2025-01-01 DOI: 10.1155/carm/2118907
Mohammed Ayyad, Lilian Tran, Safia Ansari, Dennis Levy, Daniel Matassa
{"title":"Forgotten Deficiency: A Case Series Highlighting Atypical Presentations of Scurvy in the 21st Century.","authors":"Mohammed Ayyad, Lilian Tran, Safia Ansari, Dennis Levy, Daniel Matassa","doi":"10.1155/carm/2118907","DOIUrl":"10.1155/carm/2118907","url":null,"abstract":"<p><p>Scurvy, caused by vitamin C deficiency, is increasingly recognized in contemporary clinical practice, particularly among vulnerable populations. Despite its historical association with maritime exploration, scurvy persists in patients with malnutrition, alcoholism, psychiatric disorders, and limited access to fresh produce. This report presents two cases of scurvy diagnosed in a low socioeconomic urban setting, emphasizing the diverse and atypical manifestations of this condition. The first case involves a 76-year-old female presenting with altered mental status and pulmonary hypertension, ultimately attributed to severe vitamin C deficiency. Echocardiography revealed a pulmonary artery pressure of 36 mmHg and severe tricuspid regurgitation. A thorough evaluation, combined with evidence of malnourishment and neuropsychiatric symptoms, led to the diagnosis of scurvy, confirmed by undetectable serum vitamin C levels. High-dose intravenous vitamin C supplementation resulted in marked clinical improvement and resolution of cardiopulmonary abnormalities. The second case describes a 68-year-old male with alcohol use disorder presenting with syncope, anemia, and systemic inflammation. Laboratory tests revealed leukocytosis, acute kidney injury, elevated ferritin, and undetectable iron-binding capacity. A nutritional workup identified severe vitamin C deficiency (0.2 mg/dL). Oral vitamin C supplementation improved inflammatory markers, anemia, and general well-being. These cases highlight the importance of considering scurvy in patients with unexplained systemic symptoms and malnutrition. Early diagnosis and prompt treatment with vitamin C supplementation can lead to full recovery and prevent severe complications. Clinicians should maintain a high index of suspicion for scurvy, especially in at-risk populations with atypical clinical presentations.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"2118907"},"PeriodicalIF":0.8,"publicationDate":"2025-06-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12208746/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144526554","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}
引用次数: 0
Brugada Phenocopy in a Critical Obstetric Patient: A Case Report. 1例危重产科患者的Brugada显像。
IF 0.8
Case Reports in Medicine Pub Date : 2025-06-16 eCollection Date: 2025-01-01 DOI: 10.1155/carm/9972483
Manuel Enrique Rodríguez García, Yassel Arias Otamendy, Annia de la Caridad Aguirre Ruiz
{"title":"Brugada Phenocopy in a Critical Obstetric Patient: A Case Report.","authors":"Manuel Enrique Rodríguez García, Yassel Arias Otamendy, Annia de la Caridad Aguirre Ruiz","doi":"10.1155/carm/9972483","DOIUrl":"10.1155/carm/9972483","url":null,"abstract":"<p><p>Brugada phenocopy (BrP) is an electrocardiographic (ECG) alteration that mimics Brugada syndrome (BrS) but lacks the associated genetic predisposition. It manifests as a transient pattern induced by reversible factors such as electrolyte imbalances, internal environment disturbances, and the use of certain drugs. In critically ill patients, hyperkalemia and acidosis are common triggers of this phenomenon, affecting ventricular repolarization and generating an ECG pattern identical to BrS. This report describes the case of a 30-year-old female patient who, following a complicated cesarean section with hemorrhagic shock, developed BrP induced by hyperkalemia and metabolic acidosis. The patient initially exhibited a type 1 Brugada ECG pattern, which evolved into a type 2 pattern and ultimately normalized after correction of the underlying disorders through hemodialysis. This case highlights the importance of an accurate differential diagnosis, as misidentifying BrP as true BrS could lead to inappropriate interventions, such as the implantation of defibrillators.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"9972483"},"PeriodicalIF":0.8,"publicationDate":"2025-06-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12185175/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144474068","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}
引用次数: 0
Behçet's Disease and Autoimmune Atrophic Gastritis: An Incidental Finding. behaperet病和自身免疫性萎缩性胃炎:一个偶然发现。
IF 0.8
Case Reports in Medicine Pub Date : 2025-06-13 eCollection Date: 2025-01-01 DOI: 10.1155/carm/5813761
Philippe Attieh, Antonio Al Hazzouri, Rose-Mary Daou, Sara El Haddad, Karam Karam, Elias Fiani
{"title":"Behçet's Disease and Autoimmune Atrophic Gastritis: An Incidental Finding.","authors":"Philippe Attieh, Antonio Al Hazzouri, Rose-Mary Daou, Sara El Haddad, Karam Karam, Elias Fiani","doi":"10.1155/carm/5813761","DOIUrl":"10.1155/carm/5813761","url":null,"abstract":"<p><p>Behçet's disease (BD) is a systemic inflammatory condition causing oral ulcers, genital sores, eye inflammation, and skin lesions. Autoinflammatory and autoimmune disorders are chronic immune system activation leading to tissue inflammation. Current evidence suggests that BD is at the intersection of autoimmune and autoinflammatory syndromes, with some findings suggesting an autoinflammatory nature. Oral aphthous ulcers are the commonest initial manifestation of the disease. Gastric manifestations in BD are infrequent. The usually seen finding in the stomach is either ulcers or gastritis, presenting as epigastric pain. BD has been linked with several autoimmune diseases; however, it has not yet been seen with autoimmune atrophic gastritis. We present a case of a 62-years-old male patient presenting for oral aphthous ulcers with vague abdominal pain, epigastric discomfort, and postprandial nausea. The patient was positive for HLA-B5 alleles, leading to a diagnosis of BD. Gastroscopy and colonoscopy were done to investigate a probable etiology for this patient's epigastric discomfort and abdominal pain. Gastroscopy showed multiple erosions at the level of the fundus and atrophic folds at the level of the body of the stomach, but no important findings were seen on colonoscopy. Furthermore, a gastric biopsy was done and confirmed the presence of autoimmune atrophic gastritis at the level of the fundus and antrum of the stomach which is atypical in BD that is commonly associated with aphthous ulcerations at the level of the terminal ileum. To our knowledge, this is the first case reported, which should prompt for further investigation behind the mechanism linking these two diseases.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"5813761"},"PeriodicalIF":0.8,"publicationDate":"2025-06-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12181666/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144474067","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}
引用次数: 0
Dilated Cardiomyopathy in a Young Patient With an FLNC Gene Mutation. 伴有FLNC基因突变的年轻患者扩张型心肌病。
IF 0.8
Case Reports in Medicine Pub Date : 2025-06-08 eCollection Date: 2025-01-01 DOI: 10.1155/carm/7792307
Alex David Sotomayor-Julio, Andrea Facio-Lince García, Wikler Bernal-Torres, Sebastián Seni-Molina, Juan David López-Ponce de León
{"title":"Dilated Cardiomyopathy in a Young Patient With an <i>FLNC</i> Gene Mutation.","authors":"Alex David Sotomayor-Julio, Andrea Facio-Lince García, Wikler Bernal-Torres, Sebastián Seni-Molina, Juan David López-Ponce de León","doi":"10.1155/carm/7792307","DOIUrl":"10.1155/carm/7792307","url":null,"abstract":"<p><p><b>Background:</b> Dilated cardiomyopathy is a leading cause of heart failure and heart transplantation. Among its etiologies, genetic variants account for up to 35% of cases. Variants in the <i>FLNC</i> gene have gained recognition due to their association with a higher risk of major ventricular arrhythmias and sudden cardiac death. Early identification and intervention are critical to improving patient outcomes. <b>Case Presentation:</b> We present the case of a 28-year-old male with no cardiovascular history who presented with ischemic stroke. Neurological improvement was noted following thrombolysis. Extensive testing ruled out infectious, thrombotic, and autoimmune causes. Subsequent evaluation revealed severe left ventricular systolic dysfunction (ejection fraction of 20%) and biventricular dilated cardiomyopathy. Genetic testing identified a likely pathogenic <i>FLNC</i> variant NM_001458.5(FLNC):c.1156G>T; p.Glu386∗, confirming the diagnosis of <i>FLNC</i>-associated dilated cardiomyopathy. <b>Discussion:</b> This case highlights the importance of investigating genetic causes in young patients presenting with unexplained dilated cardiomyopathy. Although truncating <i>FLNC</i> mutations are rare, they are associated with adverse outcomes, including major ventricular arrhythmias and sudden cardiac death. Atypical biventricular involvement suggests overlapping phenotypes, complicating the diagnostic process. Advanced imaging modalities, comprehensive management strategies, and early genetic testing are crucial to optimizing patient outcomes.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"7792307"},"PeriodicalIF":0.8,"publicationDate":"2025-06-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12168648/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144309585","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}
引用次数: 0
Autosomal Dominant Calpainopathy in a Diabetic Patient Complicated by Functional Gitelman Syndrome. 常染色体显性calpain病合并功能性Gitelman综合征1例。
IF 0.8
Case Reports in Medicine Pub Date : 2025-06-05 eCollection Date: 2025-01-01 DOI: 10.1155/carm/4210190
Kabilash Manivalli Peterpalaniswami, Krishnaswamy Madhavan, Gerry George Mathew, V Jayaprakash
{"title":"Autosomal Dominant Calpainopathy in a Diabetic Patient Complicated by Functional Gitelman Syndrome.","authors":"Kabilash Manivalli Peterpalaniswami, Krishnaswamy Madhavan, Gerry George Mathew, V Jayaprakash","doi":"10.1155/carm/4210190","DOIUrl":"10.1155/carm/4210190","url":null,"abstract":"<p><p>Adult-onset Gitelman syndrome with calpainopathy is a rare clinical condition in patients with diabetes mellitus. We present the case of a 52-year-old male diabetic patient who presented with muscle weakness and fatigue. On evaluation, he had reduced power in the thigh and pelvic girdle muscles. Laboratory tests revealed hypokalemia, hypomagnesemia, metabolic alkalosis, kaliuresis, and hypocalciuria, which led to the diagnosis of Gitelman syndrome. Electromyography revealed a myopathic pattern with polyphasic motor unit action potentials of a short duration. Genetic analysis revealed a heterozygous mutation in CAPN3, suggestive of autosomal dominant calpainopathy or limb girdle muscular dystrophy. He was administered intravenous potassium and magnesium supplements, followed by oral potassium chloride, magnesium oxide, and potassium-sparing diuretics. The patient had improved muscle strength on follow-up, with resolution of the electrolyte abnormalities. This case report highlights this rare clinical entity, its variable clinical manifestations, and the pathophysiological mechanisms involved in electrolyte abnormalities.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"4210190"},"PeriodicalIF":0.8,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12163201/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144301186","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}
引用次数: 0
The Reclassification of a FBN1 Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation. 通过仔细的临床相关性和基于家庭的评估重新分类与马凡氏综合征相关的未知意义的FBN1变异。
IF 0.8
Case Reports in Medicine Pub Date : 2025-06-02 eCollection Date: 2025-01-01 DOI: 10.1155/carm/8854360
Dominique Bouhamdani, Véronique Allain, Nadia Bouhamdani, Mouna Ben Amor
{"title":"The Reclassification of a <i>FBN1</i> Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation.","authors":"Dominique Bouhamdani, Véronique Allain, Nadia Bouhamdani, Mouna Ben Amor","doi":"10.1155/carm/8854360","DOIUrl":"10.1155/carm/8854360","url":null,"abstract":"<p><p><b>Background:</b>Fibrillin-1 (FBN1) is a major structural component of the extracellular matrix, providing strength and stability to tissues. Pathogenic variants lead to the development of <i>FBN1</i>-associated syndromes which comprise a broad host of phenotypes, and more commonly, Marfan syndrome (MFS). MFS is typically diagnosed in patients presenting with ectopia lentis, thoracic or aortic disease, and skeletal features, which may prompt genetic testing. <b>Case Presentation:</b> In this case report, we describe the reclassification of a newly identified heterozygous <i>FBN1</i> variant, c.2686T > A, p.(Cys896Ser), to likely pathogenic in a Caucasian 21-year-old female patient presenting with abnormal anterior eye segment with superior bilateral ectopia lentis; joint pain affecting wrists, knees, and upper back; and mild thoracolumbar scoliosis. Identification of this variant led to cascade testing in the patient's 49-year-old mother which revealed the same <i>FBN1</i> variant and an incidental finding of aortic dilatation, prompting standard management. Notably, the identification and reclassification of the variant led to early diagnosis and preventive management in the patient's mother, including cardiovascular monitoring and treatment. The segregation of the phenotype in both patient and mother, the family member testing, the variant's absence in control populations, and all in silico tools predicting pathogenicity led to the reclassification of this <i>FBN1</i> variant to likely pathogenic. <b>Conclusion:</b> We highlight the reclassification of a variant of unknown significance through careful clinical correlation and family-based evaluation. This reclassification led to a timely diagnosis and preventive management through cascade testing, demonstrating the real-world utility of genetic testing and cascade screening in connective tissue disorders.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"8854360"},"PeriodicalIF":0.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12149504/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265328","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}
引用次数: 0
Uremic Pericarditis in a Patient With Hyperphosphatemic Familial Tumoral Calcinosis: Case Report. 尿毒症心包炎合并高磷血症家族性肿瘤钙质沉着症1例报告。
IF 0.8
Case Reports in Medicine Pub Date : 2025-05-29 eCollection Date: 2025-01-01 DOI: 10.1155/carm/3968524
Rana A Nabalawi
{"title":"Uremic Pericarditis in a Patient With Hyperphosphatemic Familial Tumoral Calcinosis: Case Report.","authors":"Rana A Nabalawi","doi":"10.1155/carm/3968524","DOIUrl":"10.1155/carm/3968524","url":null,"abstract":"<p><p>Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare hereditary disorder characterized by defective phosphate homeostasis, leading to ectopic calcium deposition in soft tissues. This case report describes a 41 year-old Jordanian male with HFTC and stage 5 chronic kidney disease (CKD) secondary to nonsteroidal anti-inflammatory drug (NSAID) abuse, who presented with symptoms suggestive of uremic pericarditis (UP). His medical history included multiple excisions for tumoral calcinosis, epilepsy, and hypertension. Upon presentation, the patient exhibited severe retrosternal pain, dyspnea, and signs of renal failure. Laboratory findings confirmed severe anemia, metabolic acidosis, hyperkalemia, hyperphosphatemia, and hypocalcemia. Imaging revealed mild pericardial effusion and echogenic kidneys. Following a diagnosis of UP, the patient was initiated on daily hemodialysis and received blood transfusions and antibiotic therapy. His condition improved significantly, with complete regression of pleural effusion and stabilization of renal function. This case emphasizes the importance of effective pain management in HFTC to prevent the misuse of analgesics like NSAIDs, which can lead to severe complications such as UP. This report serves as a valuable reminder of the intricate relationship between medication management and the worsening of underlying health conditions in patients with HFTC.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"3968524"},"PeriodicalIF":0.8,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12140817/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144233279","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}
引用次数: 0
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