Journal of Medical Case Reports最新文献

{"title":"Mycotic cerebral aneurysm secondary to Streptococcus parasanguinis infective endocarditis: a case report.","authors":"Aakaash Devendra Patel, Christopher Alan Brooks, Peter Gan","doi":"10.1186/s13256-025-05475-w","DOIUrl":"10.1186/s13256-025-05475-w","url":null,"abstract":"<p><strong>Background: </strong>The pathogenesis of infective endocarditis can cause a range of extracardiac complications. Delayed diagnosis may result in catastrophic embolic sequelae. Streptococcus parasanguinis is a pathogen that insidiously causes infective endocarditis and has rarely been associated with intracerebral mycotic aneurysms in contemporary medical literature.</p><p><strong>Objective: </strong>The objective of this cae report is to describe the presentation, investigation, and management of a peculiar case of S. parasanguinis-associated infective endocarditis causing a mycotic cerebral aneurysm.</p><p><strong>Case presentation: </strong>We report our experience in treating a 70-year-old New Zealand European male patient who presented with a left parietal lobe hemorrhage. He was subsequently found to have a mycotic cerebral aneurysm. The patient had underlying S. parasanguinis infective endocarditis. This patient was treated neurosurgically for the mycotic aneurysm with subsequent surgical valve replacement. We discuss relevant considerations of treating these pathologies. We discuss the clinical features, cardioradiology and neuroradiology of this obscure but important disease process.</p><p><strong>Conclusion: </strong>S. parasanguinis, a viridans group Streptococcus, is an important cause of infective endocarditis but is rarely associated with cerebral mycotic aneurysms. It often causes a subacute form of infective endocarditis, which can hinder initial diagnostic clarity. When embolic phenomena cause the formation of an intracerebral aneurysm, the specific neuroradiological findings of intracerebral mycotic aneurysms should raise the clinician's suspicion of underlying infective endocarditis. Infective endocarditis becomes significantly more common as people age. Thus, the holistic and objective clinician must maintain a broad differential and investigate widely until a definitive etiology is elucidated. Early recognition is key to favorable outcomes. Management of similar cases requires a multidisciplinary approach with both physicians and surgeons working to identify pathology and provide treatment in a logical sequence.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"399"},"PeriodicalIF":0.8,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12335057/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144812112","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":"Unmasking of Wolff-Parkinson-White syndrome following cardioversion of ventricular tachycardia in pregnancy: a case report.","authors":"Gashaw Solela, Adane Petros, Dejuma Yadeta, Chala Fekadu, Yidnekachew Asrat, Sintayehu Abebe","doi":"10.1186/s13256-025-05460-3","DOIUrl":"10.1186/s13256-025-05460-3","url":null,"abstract":"<p><strong>Background: </strong>Wolf-Parkinson-White syndrome predisposes patients to tachyarrhythmias and sudden cardiac death, with pregnancy further exacerbating arrhythmia risk due to hemodynamic, hormonal, and autonomic changes. We present a rare case of a pregnant woman with Wolf-Parkinson-White syndrome, which was unmasked after successful cardioversion of unstable ventricular tachycardia.</p><p><strong>Case presentation: </strong>A 40-year-old Black Ethiopian pregnant woman in her 35th week of gestation presented with unstable ventricular tachycardia, requiring multiple cardioversions, along with treatment with amiodarone and magnesium sulfate. She had a similar episode of unstable ventricular tachycardia 2 years earlier that was managed with cardioversion and subsequent pharmacotherapy, including amiodarone and metoprolol. After stabilization during the current episode, the electrocardiogram showed a short PR interval, delta waves, and wide QRS complexes, indicating previously undiagnosed type A Wolf-Parkinson-White syndrome. Laboratory investigations and echocardiography were unremarkable. The patient received optimal multidisciplinary care except for the absence of an electrophysiology study, which was not available locally. Finally, she delivered a healthy neonate at term via cesarean section with favorable maternal and neonatal outcomes.</p><p><strong>Conclusion: </strong>This case underscores a rare instance of undiagnosed Wolf-Parkinson-White syndrome presenting as a life-threatening ventricular arrhythmia in pregnancy. It highlights how vigilant post-cardioversion electrocardiogram review can unmask concealed pre-excitation, the necessity of a coordinated multidisciplinary team for prompt stabilization, and the profound impact that limited access to electrophysiology services has on patient care in resource-constrained settings.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"398"},"PeriodicalIF":0.8,"publicationDate":"2025-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12335054/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144812113","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":"Amebic liver abscess rupture into inferior vena cava with pulmonary thrombo embolism: a case report.","authors":"Sripooja Makthala, Lovenish Bains, Pawan Lal, Kranthi Naik Bhukya","doi":"10.1186/s13256-025-05479-6","DOIUrl":"10.1186/s13256-025-05479-6","url":null,"abstract":"<p><strong>Background: </strong>Vascular complications such as hepatic vein and inferior vena cava thrombus, phlebitis, and extrahepatic biliary obstruction are rare in amebic liver abscesses. Many pathophysiological mechanisms are proposed, but the exact pathogenesis is still not known. These complications are believed to be multifactorial, with local and systemic factors acting synergistically. Here, we present a case of amebic abscess rupture into the inferior vena cava, with a thrombus extending up to the right atrium and pulmonary thromboembolism treated successfully.</p><p><strong>Case presentation: </strong>A 45-year-old Indian male presented with multiple episodes of fever with chills, palpitations, dyspnea, right upper abdominal pain, bilateral lower limb edema, and petechia for 20 days. On examination, tachycardia, tender hepatomegaly, and reduced air entry in the right lower lobe of the lung were observed. Ultrasound revealed an abscess in the left lobe of the liver about 150 cc in volume, abutting the inferior vena cava with rupture into it. Contrast-enhanced computed tomography imaging showed 5.7 × 6.2 × 5.4 cm segment IV A liver abscess with capsule breach into the intrahepatic vena cava and thrombus extending up to the right atrium was observed. Computed tomography-pulmonary angiography revealed a right atrium thrombus with bilateral pulmonary artery thrombus and parenchymal infarcts. Raised D-dimer, protein C and S deficiency was observed. The patient was managed by needle aspiration of abscess, anticoagulation, and antibiotics.</p><p><strong>Conclusion: </strong>Vascular complications need a high index of suspicion, good clinical knowledge, timely workup, and intervention. Direct rupture of an amebic liver abscess into the inferior vena cava, leading to pulmonary thromboembolism, is exceedingly rare and is not well-documented in the literature. Thorough investigation and timely intervention can successfully treat the patient.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"397"},"PeriodicalIF":0.8,"publicationDate":"2025-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12333142/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144804257","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":"Clinical management and retrieval of foreign body inclusion in a primary tooth: a case report.","authors":"Aakriti Chandra, Nilima Thosar, Ramakrishna Yeluri, Ishani Rahate, Mrunali Deshkar","doi":"10.1186/s13256-025-05468-9","DOIUrl":"10.1186/s13256-025-05468-9","url":null,"abstract":"<p><strong>Background: </strong>While foreign body ingestion is a frequent pediatric emergency, instances of foreign objects becoming lodged in teeth are uncommon. These can lead to infections, pain, and abscesses if left untreated. Imaging techniques such as radiovisiography and cone beam computed tomography help in detection and diagnosis.</p><p><strong>Case presentation: </strong>A 6-year-old Indian girl was brought in with black discoloration in her upper front tooth (61) for 6 months. The initial history of biting a stone was inconsistent with radiographic findings. Radiovisiography showed a radiopaque object, and cone beam computed tomography confirmed a metallic foreign body-later identified as a stapler pin-embedded in the root canal. Upon further questioning, the child disclosed self-insertion of the pin. The object was retrieved, and the tooth was successfully treated with pulpectomy and strip crown cementation.</p><p><strong>Conclusion: </strong>Timely diagnosis and intervention are crucial in managing foreign body inclusions in teeth. Parents should be advised about the risks of children placing small objects in their mouths, and early treatment of carious lesions is essential.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"396"},"PeriodicalIF":0.8,"publicationDate":"2025-08-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12330185/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144799361","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":"Acute onset of spinal dural arteriovenous fistula and rapid progression to complete paraplegia: a case report and review of the literature.","authors":"Xinling Su, Liping Huang, Gang Wang, Ming Zhou, Suhang Xie, Yangxiaoxue Liu","doi":"10.1186/s13256-025-05454-1","DOIUrl":"10.1186/s13256-025-05454-1","url":null,"abstract":"<p><strong>Background: </strong>Spinal dural arteriovenous fistula usually has an insidious clinical course and is easily misdiagnosed. In some cases, acute exacerbation occurs following certain triggers, such as corticosteroid use and lumbar puncture. Here, we introduce a rare case of spinal dural arteriovenous fistula with acute onset, rapid progression, and no cause.</p><p><strong>Case presentation: </strong>A 76-year-old Chinese male patient presented with numbness and weakness of the lower limbs that rapidly progressed to complete paralysis within 4 days. Patient was diagnosed with spinal dural arteriovenous fistula after magnetic resonance imaging and spinal vascular angiography, undergoing bilateral internal iliac artery embolization 2 weeks later, and started rehabilitation 40 days later but only received minimal improvement 1 year thereafter.</p><p><strong>Conclusion: </strong>This case highlights that spinal dural arteriovenous fistulas cannot be excluded in acute-onset or rapidly progressing spinal cord lesions; such patients with severe neurological dysfunction may have a poor prognosis even after prompt surgical treatment.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"395"},"PeriodicalIF":0.8,"publicationDate":"2025-08-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12330131/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144794635","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":"Balloon-expandable Myval valve-in-valve transcatheter aortic valve implantation with bailout left main coronary artery chimney stenting: a case report.","authors":"Dibya Ranjan Behera, Kiran Kumar Shetty","doi":"10.1186/s13256-025-05471-0","DOIUrl":"10.1186/s13256-025-05471-0","url":null,"abstract":"&lt;p&gt;&lt;strong&gt;Background: &lt;/strong&gt;Transcatheter aortic valve implantation-in-transcatheter aortic valve implantation represents a progressive solution for patients with degenerated transcatheter heart valves, especially those at high surgical risk. With the increasing use of transcatheter aortic valve implantation worldwide, the need for redo procedures is also rising. Balloon-expandable valves such as the Myval transcatheter heart valve (Meril Life Sciences Pvt. Ltd.) offer design advantages of enhanced radial strength, low-profile frames, and effective sealing, making them suitable for complex valve-in-valve scenarios. An essential procedural concern in redo transcatheter aortic valve implantation is the risk of coronary obstruction, particularly involving the left main coronary artery, requiring pre-emptive planning strategies such as the chimney technique.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Case presentation: &lt;/strong&gt;We report the case of a 68-year-old female patient of Indian ethnicity with prior transcatheter aortic valve implantation using a 26 mm CoreValve (Medtronic), presenting with symptomatic valve degeneration. Her case having been deemed high-risk for open surgical intervention, she was selected for a transcatheter aortic valve implantation-in-transcatheter aortic valve implantation procedure. Preprocedural computed tomography imaging showed a critical risk plane for the left main coronary artery, necessitating coronary protection. A 23 mm balloon-expandable Myval transcatheter heart valve was implanted using transfemoral access. Coronary protection was initiated with prepositioning of a coronary guidewire in the left coronary artery. Following valve deployment, the patient developed hypotension with left main coronary artery flow compromise, requiring bailout left main coronary artery stenting, resulting in a chimney configuration. Postdeployment angiography confirmed optimal valve positioning with preserved coronary flow. The patient initially developed hypotension and severe hypokinesia, which was managed successfully with emergency left main coronary artery stenting and supportive care. She exhibited immediate hemodynamic recovery and was discharged in a stable condition. This is the first documented case of a Myval-based transcatheter aortic valve implantation-in-transcatheter aortic valve implantation with left main coronary artery chimney stenting from East India.&lt;/p&gt;&lt;p&gt;&lt;strong&gt;Conclusion: &lt;/strong&gt;This case highlights the feasibility, safety, and procedural effectiveness of the Myval balloon-expandable transcatheter heart valve in a redo transcatheter aortic valve implantation setting. It also underscores the importance of anatomical evaluation, risk stratification, and pre-emptive coronary protection in complex structural heart interventions. The successful use of the chimney technique reinforces its role in mitigating life-threatening coronary occlusion during valve-in-valve procedures. This report contributes to the growing evidence supporting","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"390"},"PeriodicalIF":0.8,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12323054/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144789252","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":"Targeting MET and KRAS G12C co-occurring mutation in metastatic adenoid cystic carcinoma of the trachea: a case report.","authors":"Ling Zhang, Tonghui Wang, Yan Xu, Youxin Ji, Keke Nie","doi":"10.1186/s13256-025-05246-7","DOIUrl":"10.1186/s13256-025-05246-7","url":null,"abstract":"<p><strong>Background: </strong>MET and KRAS comutation in the same group of cells of primary tracheal adenoid cystic carcinoma is extremely rare; there is no standard of care for patient with metastatic disease.</p><p><strong>Case presentation: </strong>We report a 42-year-old treatment-naïve Chinese male patient with metastatic tracheal adenoid cystic carcinoma harboring a MET p.D1010Y and KRAS p.G12C comutation. The patient responded well to the MET inhibitor crizotinib and MEK inhibitor trametinib combination therapy, but had progression when he discontinued trametinib because of grade III rashes on the face and trunk. With the reintroduction of trametinib with a dose reduction, his metastatic lesions shrank after 2 months of therapy.</p><p><strong>Conclusion: </strong>MET p.D1010Y and KRAS p.G12C comutation is extremely rare and could happen concurrently in the same group of cells of metastatic tracheal adenoid cystic carcinoma; crizotinib combined with trametinib is effective, and the toxicities are manageable.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"389"},"PeriodicalIF":0.8,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12323115/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144789359","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":"Upper gastrointestinal hemorrhage as a manifestation of systemic lupus erythematosus: a case report.","authors":"Kedir Negesso Tukeni, Tamirat Godebo Woyimo, Ramadan Jemal Dekema, Kidus Tesfaye Bezabih, Ermias Habte Gebremichael, Merid Lemma Kebede, Elsah Tegene Asefa","doi":"10.1186/s13256-025-05419-4","DOIUrl":"10.1186/s13256-025-05419-4","url":null,"abstract":"<p><strong>Background: </strong>Systemic lupus erythematosus can present with diverse and often misleading clinical manifestations due to symptom overlap with other medical conditions. Misinterpretation of its presentation may result in delayed diagnosis and hinder the timely initiation of standard treatment.</p><p><strong>Case presentation: </strong>A 28-year-old Black Ethiopian female patient presented with upper gastrointestinal bleeding, skin rashes, easy fatigability, psychological abnormalities, and pneumonia. Physical examination revealed blood pressure of 90/55 mmHg, pulse rate of 124 beats per minute, which was weak but regular, respiratory rate of 26 breaths per minute, febrile with body temperature of 38.5 °C, and she was desaturating with oxygen saturation of 84% with room air, later improved to 94% with a face mask at a flow rate of 8 L per minute. Her conjunctivae were pale with blood actively oozing from the gums, with tiny, round, whitish lesions on buccal mucosae. There was coarse crepitation on the bilateral infrascapular area of the lungs. This was a case of systemic lupus erythematosus, presenting with upper gastrointestinal bleeding and treated with disease-modifying agents, supportive care, and levothyroxine for subclinical hypothyroidism, as was confirmed from laboratory investigation results. Her condition improved completely following the treatment.</p><p><strong>Conclusion: </strong>Although systemic lupus erythematosus typically involves multiple organ systems, atypical features-such as upper gastrointestinal bleeding and recurrent pneumonia-can obscure the diagnosis and delay the initiation of appropriate treatment. In this case, despite the late start of therapy, the patient achieved full recovery. This case highlights the importance of recognizing rare manifestations of relatively common diseases and evaluating for coexisting conditions, such as subclinical hypothyroidism, which would influence disease activity, treatment response, and overall prognosis.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"391"},"PeriodicalIF":0.8,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12326609/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144789360","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":"Distinguishing omphalocele from pseudo-omphalocele, highlighting the ultrasonography pitfall: a case report.","authors":"Prajwal Dahal, Rudra Prasad Upadhyaya, Ongden Yonjen Tamang, Sabina Parajuli","doi":"10.1186/s13256-025-05449-y","DOIUrl":"10.1186/s13256-025-05449-y","url":null,"abstract":"<p><strong>Background: </strong>Omphalocele is a congenital anomaly where abdominal contents herniate through a defect in the fetal abdominal wall, covered by peritoneum and amnion. It is associated with high mortality and other anomalies. Pseudo-omphalocele is a potential pitfall in antenatal ultrasonography, where a transient bulge of abdominal contents may appear owing to factors such as a contracted uterus, placenta, or excessive transducer pressure.</p><p><strong>Case report: </strong>This report presents two cases: one of true omphalocele in a twin pregnancy and another of pseudo-omphalocele, underscoring the importance of careful assessment. The first case involves a twin pregnancy at 12 weeks' gestation, conceived through assisted reproductive technique in a 38-year-old Nepali woman of Indo-Aryan ethnicity. During a routine check-up, one twin was diagnosed with omphalocele. Trans-abdominal fetal reduction of the anomalous twin was performed. The other twin progressed to term and was delivered via cesarean section at 39 weeks. The second case involved pseudo-omphalocele, observed at 15 weeks' 3 days of gestation in a 32-year-old Nepali woman of Tibeto-Burmese ethnicity. Initially, the fetal abdomen appeared to herniate, mimicking omphalocele. However, a repeat examination after 30 min showed no herniation or defect. Retrospective analysis revealed that the misdiagnosis occurred because the fetal abdomen was compressed between the contracted myometrium and placenta.</p><p><strong>Conclusion: </strong>Accurate diagnosis of omphalocele is crucial to prevent unnecessary abortions and potential professional repercussions. We recommend repeat examination after 30 min in all cases of omphalocele to prevent misdiagnosis.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"388"},"PeriodicalIF":0.8,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12323075/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144789354","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":"Sitosterolemia carrying both ABCG5 and HBA gene mutations: a case report and review of the literature.","authors":"Xiaobing Sun, Jiong Wu, Pu Chen, Ruiqing He, Ting Li, Qingwen Zeng, Qi Hou","doi":"10.1186/s13256-025-05439-0","DOIUrl":"10.1186/s13256-025-05439-0","url":null,"abstract":"<p><strong>Background: </strong>Mutations in the ABCG5 gene can cause sitosterolemia, which is a rare lipid metabolism disorder characterized by impaired regulation of phytosterols, leading to their excessive accumulation in tissues and organs, which triggers various complications. If left untreated, it may cause serious issues, often presenting first as xanthomas on the skin and other tissues.</p><p><strong>Case presentation: </strong>A 9-year-old female Chinese Zhuang patient developed her first xanthomas on her knees at the age of 4, which progressively spread across her body over the years. Initial blood tests revealed elevated plasma cholesterol and low-density lipoprotein, and she was misdiagnosed with familial hypercholesterolemia, leading to ineffective treatment. Despite visiting several hospitals, the underlying cause remained unidentified, and the patient was eventually admitted to our hospital for further evaluation. The complete blood count showed mild hypochromic microcytic anemia and blood smears showed microcytic hypochromic anemia and the presence of giant platelets in the peripheral blood. Plasma phytosterol profiling revealed significantly elevated phytosterol levels, and whole exome sequencing detected a homozygous mutation in the ABCG5 gene (c.751C > T, p.Q251*). On the basis of these findings, the patient was diagnosed with sitosterolemia. Her parents and younger brother were found to carry the heterozygous mutation but exhibited no clinical symptoms. In addition, iron metabolism tests and DNA copy number multidetection technology, along with single nucleotide polymorphism typing, revealed that the patient also had a silent alpha-thalassemia trait (genotype: HBA, -α3.7/αα).</p><p><strong>Conclusion: </strong>Sitosterolemia is a rare lipid metabolism disorder that should be considered in patients presenting with multiple xanthomas, severe hypercholesterolemia, or elevated low-density lipoprotein-cholesterol levels. Diagnosis can be confirmed through phytosterol detection and molecular testing. Early diagnosis allows for dietary recommendations-such as restricting cholesterol and phytosterol intake-and, if necessary, treatment with medications such as ezetimibe. As we know, alpha-thalassemia is able to cause microcytosis and phytosterolemia may cause stomatocytosis in peripheral blood. However, there are no reports of two gene mutations occurring simultaneously in the same individual, and no stomatocytosis was observed in our patient. Hence, this suggests that the mutual regulation of two diseases and the effects on red blood cell membranes may exist, and the underlying mechanisms of this phenomenon are valuable for further research.</p>","PeriodicalId":16236,"journal":{"name":"Journal of Medical Case Reports","volume":"19 1","pages":"387"},"PeriodicalIF":0.8,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12323034/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144789357","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}