Case Reports in Medicine最新文献

筛选
英文 中文
Clinical Diagnosis and Management of Bilateral Plunging Ranula. 双侧乳头下垂的临床诊断与治疗。
IF 0.7
Case Reports in Medicine Pub Date : 2026-04-10 eCollection Date: 2026-01-01 DOI: 10.1155/carm/8833631
Bo-Wen Liu, Hai-Xiao Zou
{"title":"Clinical Diagnosis and Management of Bilateral Plunging Ranula.","authors":"Bo-Wen Liu, Hai-Xiao Zou","doi":"10.1155/carm/8833631","DOIUrl":"https://doi.org/10.1155/carm/8833631","url":null,"abstract":"<p><p>Ranula is a benign salivary gland lesion originating from the sublingual salivary gland. This condition is primarily associated with salivary extravasation and retention due to obstruction or injury of the submandibular duct. A plunging ranula represents a rare variant occurring in the neck, submandibular, or submental regions, with bilateral presentations being particularly uncommon. Clinically, due to its lack of specificity, it is easily confused with other cervical lesions. This paper reports a case of a 25-year-old female presenting with bilateral painless submandibular masses. MRI revealed the characteristic bilateral \"drooping tail sign\". Following bilateral sublingual gland and cyst excision, the patient recovered well postoperatively with no immediate complications. At the two-month follow-up, no recurrence was observed, and symptoms were completely resolved. This paper aims to summarize the imaging features of bilateral plunging ranula and enhance clinical capacity for the differential diagnosis of this rare condition.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"8833631"},"PeriodicalIF":0.7,"publicationDate":"2026-04-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13067052/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147670483","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
Anesthetic Management for Headscarf Pin Tracheobronchial Foreign Body Removal in a Pediatric Patient. 1例小儿头巾针气管支气管异物取出术的麻醉处理。
IF 0.7
Case Reports in Medicine Pub Date : 2026-04-09 eCollection Date: 2026-01-01 DOI: 10.1155/carm/4664553
Amadou Diaw Diop, Faboye Ndoumbe Mathilde Diop, Alpha Diallo, Lijun Chen, Wenqing Zhang
{"title":"Anesthetic Management for Headscarf Pin Tracheobronchial Foreign Body Removal in a Pediatric Patient.","authors":"Amadou Diaw Diop, Faboye Ndoumbe Mathilde Diop, Alpha Diallo, Lijun Chen, Wenqing Zhang","doi":"10.1155/carm/4664553","DOIUrl":"https://doi.org/10.1155/carm/4664553","url":null,"abstract":"<p><p>Foreign bodies in the airways are relatively common in preschool- and school-aged children. We report a rare case of the successful removal of a sharp metallic foreign body from the bronchus of a 12-year-old boy under combined inhalational and intravenous anesthesia without tracheal intubation. This report emphasizes the perioperative anesthetic strategies for foreign object removal. The patient presented with sudden-onset choking and hemoptysis. Chest computed tomography revealed a linear metallic foreign body measuring approximately 5 cm long in the left main bronchus. The foreign body was removed via rigid bronchoscopy under deep sedation maintained by a combination of inhalational and intravenous anesthesia while preserving spontaneous respiration. Intraoperative ventilation was controlled intermittently to ensure adequate oxygenation. Based on recent studies, we discuss key anesthetic considerations and risk-mitigation strategies for managing sharp bronchial foreign bodies in pediatric patients. This case highlights the importance of maintaining spontaneous respiration during bronchoscopy and tailoring anesthetic approaches to ensure safe outcomes, despite limited access to advanced airway technologies.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"4664553"},"PeriodicalIF":0.7,"publicationDate":"2026-04-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13066708/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147670468","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 Poisoning Presenting With Anaphylaxis and Cardiovascular Instability: A Case Series. 疯狂蜂蜜中毒表现为过敏反应和心血管不稳定:一个病例系列。
IF 0.7
Case Reports in Medicine Pub Date : 2026-04-05 eCollection Date: 2026-01-01 DOI: 10.1155/carm/1634503
Abal Baral, Kusha K C
{"title":"Mad Honey Poisoning Presenting With Anaphylaxis and Cardiovascular Instability: A Case Series.","authors":"Abal Baral, Kusha K C","doi":"10.1155/carm/1634503","DOIUrl":"https://doi.org/10.1155/carm/1634503","url":null,"abstract":"<p><strong>Background: </strong>Mad honey differs from commercial honey due to contamination with grayanotoxins. These toxins are produced when honey bees extract nectar and pollen from various <i>Rhododendron</i> species. While cardiovascular toxicity is well-documented, anaphylactic reactions are rare and underreported.</p><p><strong>Case presentation: </strong>This case series describes seven patients presenting to a rural primary care hospital in Nepal between June 2024 and January 2025. Patients were males aged 36-66 years who consumed 5-25 mL of wild honey. The clinical presentation varied: five patients presented with classic symptoms of dizziness, vomiting, bradycardia, and hypotension. Notably, two patients presented with features of anaphylaxis (angioedema, urticaria, and respiratory distress) without initial bradycardia. All patients improved within 24-48 h under supportive management, which included atropine for bradycardia and intramuscular adrenaline (1:1000 concentration) for anaphylaxis.</p><p><strong>Conclusion: </strong>Mad honey poisoning can present with a spectrum of symptoms ranging from cholinergic toxicity to anaphylaxis. This series highlights the diagnostic challenge of consuming wild honey contaminated with grayanotoxins and underscores the need for clinicians to recognize anaphylaxis as a potential, albeit less common, manifestation.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"1634503"},"PeriodicalIF":0.7,"publicationDate":"2026-04-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13051891/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147632450","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
A Technique to Improve the Success of Stent Placement for High-Level Malignant Biliary Obstruction Through PTCD Tract: A Case Report. 一种提高经PTCD道高位恶性胆道梗阻支架置入成功率的技术:1例报告。
IF 0.7
Case Reports in Medicine Pub Date : 2026-04-04 eCollection Date: 2026-01-01 DOI: 10.1155/carm/8550138
Xu Lan, Yue-Xiao Lin, Yun-Xiao Wang, Yi-Fei Dong, Jia-Jia Duan
{"title":"A Technique to Improve the Success of Stent Placement for High-Level Malignant Biliary Obstruction Through PTCD Tract: A Case Report.","authors":"Xu Lan, Yue-Xiao Lin, Yun-Xiao Wang, Yi-Fei Dong, Jia-Jia Duan","doi":"10.1155/carm/8550138","DOIUrl":"https://doi.org/10.1155/carm/8550138","url":null,"abstract":"<p><p>For patients with high-level malignant biliary obstruction-confirmed following initial percutaneous transhepatic cholangiography drainage (PTCD) performed for preoperative bilirubin reduction and subsequently determined to be unresectable-biliary stent placement via the existing PTCD tract represents a straightforward, minimally invasive, and clinically feasible therapeutic strategy. However, the procedure may be technically challenging if the catheter tract is tortuous. This case report describes a refined interventional technique to overcome such limitations. A 56-year-old man was admitted due to right upper quadrant abdominal pain and progressive jaundice involving both the skin and sclera. Initial PTCD was performed to achieve rapid biliary decompression and reduce serum bilirubin levels. Subsequently, comprehensive imaging and histopathological evaluation established the diagnosis of unresectable hilar cholangiocarcinoma with intrahepatic and multiple osseous metastases. Given the patient's unresectability and need for durable biliary drainage, stent placement through the preexisting PTCD tract was selected as the optimal palliative intervention. During the procedure, a hydrophilic guidewire was advanced through the indwelling PTCD catheter into the duodenum through the obstructed hepatic portal bile duct and common bile duct; the catheter was then withdrawn over the wire, and a vascular sheath (size similar to the original PTCD tract) was inserted coaxially over the guidewire. This maneuver effectively straightened the access pathway and provided mechanical support for subsequent device delivery. A self-expanding metallic biliary stent was then successfully deployed along the PTCD tract. Postprocedural cholangiography confirmed complete stent apposition, unobstructed bile flow into the duodenum, and absence of procedural complications. This case demonstrates that the judicious use of a vascular sheath during PTCD tract-based stent placement enhances procedural safety, efficiency, and technical success-while minimizing procedural complexity and patient discomfort-and represents a practical, reproducible refinement for biliary stent deployment in anatomically challenging high-grade malignant biliary obstruction.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"8550138"},"PeriodicalIF":0.7,"publicationDate":"2026-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13051794/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147632458","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
Acute Cardiovascular Response to Ophthalmic Phenylephrine During Plaque Radiotherapy Insertion. 在斑块放疗插入期间,眼用苯肾上腺素对心血管的急性反应。
IF 0.7
Case Reports in Medicine Pub Date : 2026-03-09 eCollection Date: 2026-01-01 DOI: 10.1155/carm/9515014
Daniel A Balikov, Nathan L Scott, Neil H Masters, Zelia M Correa
{"title":"Acute Cardiovascular Response to Ophthalmic Phenylephrine During Plaque Radiotherapy Insertion.","authors":"Daniel A Balikov, Nathan L Scott, Neil H Masters, Zelia M Correa","doi":"10.1155/carm/9515014","DOIUrl":"https://doi.org/10.1155/carm/9515014","url":null,"abstract":"<p><strong>Purpose: </strong>To report a case of an acute rise in blood pressure and acquired cardiac arrhythmia resulting from excessive topical phenylephrine exposure intraoperatively during the surgical insertion of a radioactive plaque for choroidal melanoma.</p><p><strong>Methods: </strong>Observational case report with literature review.</p><p><strong>Observations: </strong>A 56-year-old asymptomatic man with a diagnosis of choroidal melanoma of the right eye underwent routine plaque radiotherapy placement. Due to delayed dilation, additional topical 10% phenylephrine drops were placed on the eye after limited conjunctival peritomy. Shortly thereafter, the patient experienced an acute hypertensive episode with a cardiac arrhythmia and confusion due to the excess phenylephrine used that pooled on the ocular surface. The patient was successfully treated by the anesthesia team and found to have no chronic cardiac conditions. The choroidal melanoma was also successfully treated.</p><p><strong>Conclusion and importance: </strong>Additional mydriatic agents may be used with caution in the postincision setting, but should be thoroughly rinsed to prevent adverse cardiac events, particularly phenylephrine. Open communication is critical between the surgical and the anesthesia team prior to the addition of phenylephrine drops.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"9515014"},"PeriodicalIF":0.7,"publicationDate":"2026-03-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12969749/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147431106","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
Perioperative Challenges in a Patient With Sturge-Weber and Obesity Hypoventilation Syndromes. 斯特奇-韦伯综合征和肥胖低通气综合征患者围手术期的挑战。
IF 0.7
Case Reports in Medicine Pub Date : 2026-03-08 eCollection Date: 2026-01-01 DOI: 10.1155/carm/5537894
Giuseppe Mincolelli, Antonio Izzi, Matteo Luigi Giuseppe Leoni, Vincenzo Marchello, Maria Grazia Di Carlo, Marco Cascella, Andreaserena Recchia, Ruggero Massimo Corso
{"title":"Perioperative Challenges in a Patient With Sturge-Weber and Obesity Hypoventilation Syndromes.","authors":"Giuseppe Mincolelli, Antonio Izzi, Matteo Luigi Giuseppe Leoni, Vincenzo Marchello, Maria Grazia Di Carlo, Marco Cascella, Andreaserena Recchia, Ruggero Massimo Corso","doi":"10.1155/carm/5537894","DOIUrl":"https://doi.org/10.1155/carm/5537894","url":null,"abstract":"<p><strong>Background: </strong>The rare concurrence of Sturge-Weber syndrome (SWS) and obesity hypoventilation syndrome (OHS) presents significant anesthetic challenges, with complexity in airway management and perioperative respiratory care.</p><p><strong>Case presentation: </strong>A 55-year-old man with SWS and OHS underwent elective dental extraction. He was advised to undergo continuous positive airway pressure (CPAP) therapy (10 cmH<sub>2</sub>O) preoperatively. Premedication included intramuscular clonidine (2 μg/kg). Awake fiberoptic intubation was performed under high-flow nasal oxygen (HFNO) support. Anesthesia was maintained with propofol and remifentanil via target-controlled infusion. In the PACU, CPAP intolerance led to desaturation (SpO<sub>2</sub> 80%), which was rapidly corrected with HFNO (50-70 L/min, FiO<sub>2</sub> 60%-80%), restoring SpO<sub>2</sub> > 94% within 3 min. The patient was discharged after 24 h of uneventful monitoring.</p><p><strong>Conclusions: </strong>Awake fiberoptic intubation and the use of HFNO under strict ventilatory monitoring, as a rescue or bridging strategy, can facilitate safe anesthetic management in high-risk patients with SWS and OHS who are CPAP-intolerant. This case highlights the importance of multidisciplinary planning and individualized respiratory support strategies.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"5537894"},"PeriodicalIF":0.7,"publicationDate":"2026-03-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12968320/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147431075","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
Diagnostic and Surgical Challenges in Lacrimal Gland Pleomorphic Adenoma: A Case With Prolonged Ptosis and Acute Orbital Changes. 泪腺多形性腺瘤的诊断和手术挑战:一例长时间上睑下垂和急性眼眶改变。
IF 0.7
Case Reports in Medicine Pub Date : 2026-03-06 eCollection Date: 2026-01-01 DOI: 10.1155/carm/4651378
Khayry Al-Shami, Falah Qudah, Karim Zinhom, Abed Elhakam El-Lababneh, Ziad Haddad, Sondos Qawasmeh, Yahia Ranjous
{"title":"Diagnostic and Surgical Challenges in Lacrimal Gland Pleomorphic Adenoma: A Case With Prolonged Ptosis and Acute Orbital Changes.","authors":"Khayry Al-Shami, Falah Qudah, Karim Zinhom, Abed Elhakam El-Lababneh, Ziad Haddad, Sondos Qawasmeh, Yahia Ranjous","doi":"10.1155/carm/4651378","DOIUrl":"10.1155/carm/4651378","url":null,"abstract":"<p><strong>Background: </strong>Pleomorphic adenoma of the lacrimal gland is a rare benign tumor affecting the orbital area that is usually noninfectious and gradually progressive in nature with painless proptosis.</p><p><strong>Case presentation: </strong>We describe a case of a 37-year-old woman who presented with an unusual clinical course of ptotic history over five years with proptosis and superolateral orbital fullness emergent in the recent past. MRI showed that the mass originated in the lacrimal gland as a well-circumscribed and heterogeneous mass without bone erosion or intracranial expansion. Laboratory investigations were normal. A bone window lateral orbitotomy was performed on the patient, where the pseudocapsule was not breached, allowing the excision of the encapsulated tumor in its entirety. Pleomorphic adenoma was diagnosed by histopathological examination. Following surgery, the patient completely recovered with regard to ocular motility, proptosis resolution, and visual function. A seven-month follow-up showed the lesion fully resolved, and there was no sign of relapse.</p><p><strong>Conclusion: </strong>This case demonstrates the significance of the ability to identify abnormal manifestations of lacrimal gland pleomorphic adenoma and underlines its total resection as a method to avoid recurrence and malignant conversion. Surveillance over a long period is essential because it is possible that, after treatment several years ago, recurrence can take place.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"4651378"},"PeriodicalIF":0.7,"publicationDate":"2026-03-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12963930/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147376142","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
Hypertrophic Pachymeningitis Possibly Secondary to Otitis Media. 肥厚性厚性脑膜炎可能继发于中耳炎。
IF 0.7
Case Reports in Medicine Pub Date : 2026-03-04 eCollection Date: 2026-01-01 DOI: 10.1155/carm/4541532
Bo Wang, Guoyong Qin, Jiafang Wang, Kebin Zeng
{"title":"Hypertrophic Pachymeningitis Possibly Secondary to Otitis Media.","authors":"Bo Wang, Guoyong Qin, Jiafang Wang, Kebin Zeng","doi":"10.1155/carm/4541532","DOIUrl":"10.1155/carm/4541532","url":null,"abstract":"<p><p>This study describes a 46-year-old female patient who initially presented with hearing impairment and subsequently developed a headache as the predominant symptom, accompanied by the involvement of multiple cranial nerves, including the optic, vestibulocochlear, and trigeminal nerves. Cerebrospinal fluid pressure progressively increased, and imaging demonstrated progression from unilateral to bilateral involvement of the tentorium cerebelli. Clinically, the patient's hypertrophic pachymeningitis was considered associated with otitis media. After receiving high-dose corticosteroid pulse therapy, the patient experienced marked relief of the headache and associated symptoms, which was presumed to be related to postinfectious immune-inflammatory mechanisms.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"4541532"},"PeriodicalIF":0.7,"publicationDate":"2026-03-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12960775/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147376096","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
Correction to "Delayed Pulmonary Metastasis of Basal Cell Carcinoma 10 Years After Primary Excision: A Case Report and Literature Review". 对“原发性基底细胞癌术后10年迟发性肺转移一例报告及文献复习”的更正。
IF 0.7
Case Reports in Medicine Pub Date : 2026-03-03 eCollection Date: 2026-01-01 DOI: 10.1155/carm/9830530
{"title":"Correction to \"Delayed Pulmonary Metastasis of Basal Cell Carcinoma 10 Years After Primary Excision: A Case Report and Literature Review\".","authors":"","doi":"10.1155/carm/9830530","DOIUrl":"https://doi.org/10.1155/carm/9830530","url":null,"abstract":"<p><p>[This corrects the article DOI: 10.1155/carm/8239242.].</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"9830530"},"PeriodicalIF":0.7,"publicationDate":"2026-03-03","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12954463/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147354096","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 Challenges of Diagnosing Familial Dysbetalipoproteinemia: A Case Associated With a Rare ApoE Variant. 诊断家族性异常脂蛋白血症的挑战:一个与罕见ApoE变异相关的病例。
IF 0.7
Case Reports in Medicine Pub Date : 2026-03-02 eCollection Date: 2026-01-01 DOI: 10.1155/carm/8758502
Spencer Rowland, Kent Brummel, Rajani Aatre, Eric J Brandt
{"title":"The Challenges of Diagnosing Familial Dysbetalipoproteinemia: A Case Associated With a Rare ApoE Variant.","authors":"Spencer Rowland, Kent Brummel, Rajani Aatre, Eric J Brandt","doi":"10.1155/carm/8758502","DOIUrl":"https://doi.org/10.1155/carm/8758502","url":null,"abstract":"<p><p>Familial dysbetalipoproteinemia (FDB) is a lipid disorder characterized by defective clearance of triglyceride-rich lipoprotein remnants. Definitive diagnosis has relied on genetic markers, lipid profiles, and specialized lipid assays including gel electrophoresis that demonstrates the characteristic beta-band consistent with enriched small VLDL and IDL. We present a case of a 51-year-old female with progressive hyperlipidemia despite a stable plant-based diet and regular exercise. Her lipid profile met many of the diagnostic criteria for FDB (ApoB < 120 mgd/L, TG > 133 mg/dL [1.5 mmol/L], and TG/ApoB ratio < 8.8). However, advanced lipid testing failed to demonstrate hallmark lipid remnant accumulation, likely due to statin therapy initiation prior to the time of testing. Genetic testing revealed heterozygosity for the ApoE2 variant (Arg176Cys) and another novel variant of unknown significance (VUS), 593 G > A (Arg198His), on the same allele (herein termed ApoE2-Wolverine). The ApoE2-Wolverine variant may be contributing to the patient's dyslipidemia; however, further investigation into its functional significance and cardiovascular implications is needed. Her treatment with rosuvastatin 10 mg, 2 g of daily eicosapentaenoic acid (EPA), and lifestyle modifications contributed to improvements in her lipid levels. This case highlights the diagnostic challenges in FDB, especially when novel genetic variants are involved. While many criteria for FDB were met, confirmatory gel electrophoresis and genetic testing were inconclusive. This case underscores the need for multimodal assessment in FDB diagnosis, incorporating genetic analysis, lipid profiles, and therapeutic response.</p>","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"8758502"},"PeriodicalIF":0.7,"publicationDate":"2026-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12951111/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147347694","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
0
×
引用
GB/T 7714-2015
复制
MLA
复制
APA
复制
导出至
BibTeX EndNote RefMan NoteFirst NoteExpress
×
提示
您的信息不完整,为了账户安全,请先补充。
现在去补充
×
提示
您因"违规操作"
具体请查看互助需知
我知道了
×
提示
确定
请完成安全验证×
相关产品
×
本文献相关产品
联系我们:info@booksci.cn Book学术提供免费学术资源搜索服务,方便国内外学者检索中英文文献。致力于提供最便捷和优质的服务体验。 Copyright © 2023 布克学术 All rights reserved.
京ICP备2023020795号-1
ghs 京公网安备 11010802042870号
Book学术文献互助
Book学术文献互助群
群 号:604180095
Book学术官方微信
小红书