Case Reports in Medicine最新文献_第6页

Combined Mutations of LTBP3 and COL5A1A in Geleophysic Dysplasia. LTBP3和COL5A1A在骨骼发育不良中的联合突变。

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Case Reports in Medicine Pub Date : 2026-06-10 eCollection Date: 2026-01-01 DOI: 10.1155/carm/1910227

Adel Alsharei, Mohammad T Batayneh, Firas Zraiqi, Yazan M Al-Omari, Abdullah M Al-Ali, Almu'atasim Khamees, Saleh A Ba-Shammakh, Aiman Al Sharei, Raed M Al-Zoubi, Mazhar S Al Zoubi

{"title":"Combined Mutations of LTBP3 and COL5A1A in Geleophysic Dysplasia.","authors":"Adel Alsharei, Mohammad T Batayneh, Firas Zraiqi, Yazan M Al-Omari, Abdullah M Al-Ali, Almu'atasim Khamees, Saleh A Ba-Shammakh, Aiman Al Sharei, Raed M Al-Zoubi, Mazhar S Al Zoubi","doi":"10.1155/carm/1910227","DOIUrl":"10.1155/carm/1910227","url":null,"abstract":"Geleophysic dysplasias (GDs) are uncommon genetically predisposed abnormalities that interfere with skeletal growth and formation. Several GD subtypes have different clinical manifestations. The current report presents the case of a 7-year-old Syrian boy with a medical history of repeated bone fractures and noticeable facial characteristics. Initial laboratory examinations revealed normal results, except for low serum phosphate and ferritin levels. The X-ray images showed no abnormalities. The DEXA scan was like that of a 92.1-year-old. Karyotype analysis revealed 46 XY. Genetic testing results showed compound heterozygous mutations in the Latent Transforming Growth Factor Beta Binding Protein 3 (LTBP3) gene and a heterozygous mutation in collagen Type V Alpha 1 (COL5A1), consistent with the patient's clinical manifestations. The following fractures were treated using a combination of nonsurgical casting and surgical intervention. The LTBP3 gene mutations are associated with GD. However, the COL5A1 gene mutations are assumed to be associated with Ehlers-Danlos syndrome Type 1. However, the patient did not exhibit the typical features of joint hypermobility or skin abnormalities, suggesting that the COL5A1 mutation may have a minor effect on his condition. In conclusion, this case highlights the importance of genetic testing in children with repeated fractures and abnormal physical traits. Although the COL5A1 mutation may have a minor influence, further investigation is needed to understand its long-term effects. This instance also emphasizes the range of physical characteristics that can occur with GD and Marfan syndrome, even when caused by the same genetic mutations.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"1910227"},"PeriodicalIF":1.0,"publicationDate":"2026-06-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13250839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148223404","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

Managing Decompression Sickness in a Low-Resource Setting, a Clarion Call to Improve Systems: A Case Report. 管理减压病在低资源设置，一个响亮的呼吁，以改善系统：一个案例报告。

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Case Reports in Medicine Pub Date : 2026-06-09 eCollection Date: 2026-01-01 DOI: 10.1155/carm/4030617

Fonseka C L, Liyanage D C, Nusaiha M N A, Nawagamuwa L P R S, Nanayakkara B P N, Ruben J, Ariyadewa D K, Dissanayake A S

{"title":"Managing Decompression Sickness in a Low-Resource Setting, a Clarion Call to Improve Systems: A Case Report.","authors":"Fonseka C L, Liyanage D C, Nusaiha M N A, Nawagamuwa L P R S, Nanayakkara B P N, Ruben J, Ariyadewa D K, Dissanayake A S","doi":"10.1155/carm/4030617","DOIUrl":"10.1155/carm/4030617","url":null,"abstract":"Decompression sickness (DCS) is a life-threatening clinical condition that occurs following an uncontrolled rapid ascent after a deep dive, leading to the formation of gas bubbles in the blood occurring due to the rapid decline in environmental pressure. We report the case of a 32-year-old male who presented with bilateral lower limb numbness eight hours following a diving session. He was diagnosed with neurological DCS and transported 365 km to the Naval Hospital, Eastern Command where he received hyperbaric oxygen treatment and made a full recovery. This individual developed DCS after repetitive dives within a week despite having planned ascents with advice from a diving instructor. He switched between different rented diving computers; consequently, these devices lacked cumulative dive history to indicate minimum surface time required for sufficient nitrogen gas washout. Both the diver and instructors had a suboptimal assessment of the cumulative dive exposure and worked with a false reassurance of having planned ascents under supervision. In addition, this report highlights critical delays in the diagnosis of DCS and complexities involved in accessing the country's only hyperbaric treatment facility. It also emphasizes the need for empowering diving centers and medical professionals for early identification and facilitating access to prompt treatment.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"4030617"},"PeriodicalIF":1.0,"publicationDate":"2026-06-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13250383/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148223381","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

Brainstem Tuberculous Abscess in a 63-Year-Old Adult With Unrepaired Tetralogy of Fallot. 63岁成人法洛四联症未修复的脑干结核性脓肿。

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Case Reports in Medicine Pub Date : 2026-06-02 eCollection Date: 2026-01-01 DOI: 10.1155/carm/8475963

Jessica S Yang, Flora Y Kurtz, Hans H Liu, Benjamin Ehrlich, Gbambele Kone

{"title":"Brainstem Tuberculous Abscess in a 63-Year-Old Adult With Unrepaired Tetralogy of Fallot.","authors":"Jessica S Yang, Flora Y Kurtz, Hans H Liu, Benjamin Ehrlich, Gbambele Kone","doi":"10.1155/carm/8475963","DOIUrl":"10.1155/carm/8475963","url":null,"abstract":"Background: Tetralogy of Fallot (TOF) is a congenital heart anomaly usually corrected surgically in childhood. Reports of adults with unrepaired TOF indicate that they are at high risk of endocardial infections and sequelae such as distant abscesses.Case presentation: A 63-year-old man born and raised in Vietnam presented with unrepaired TOF and 5 days of dizziness, dysarthria, and left-sided weakness. Magnetic resonance imaging (MRI) of the brain demonstrated a 2.9-cm rim-enhancing pontine lesion with associated edema and a punctate acute infarct in the right cerebellum. Echocardiogram of the heart revealed right-to-left shunting, while chest computerized tomography (CT) showed a left apical cavitary mass. Initial studies were negative for bacteremia and endocarditis. Due to clinical suspicion and a positive QuantiFERON Gold tuberculosis (TB) test, antituberculous therapy was initiated. Biopsy of the central nervous system (CNS) lesion was deferred due to risk, and therapy was continued with antituberculous agents and steroids. The patient improved with a final diagnosis of tuberculous brainstem abscess.Conclusion: This case highlights early recognition and awareness of potential complications associated with untreated TOF as well as suspicion for TB in the proper clinical setting. Complex cases involving rare diagnoses should be approached systematically, evaluating possible diagnoses in order of urgency and basing invasive procedures on patient risk-benefit.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"8475963"},"PeriodicalIF":1.0,"publicationDate":"2026-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13240422/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148197265","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

Infection-Triggered Disease Flare With Extraintestinal Manifestations in Trichohepatoenteric Syndrome: A Case Report. 感染引发的疾病爆发与肠外表现的tricho肝肠综合征：1例报告

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Case Reports in Medicine Pub Date : 2026-05-31 eCollection Date: 2026-01-01 DOI: 10.1155/carm/3024414

Hatem M Taha, Mohammed AbuBaha, Hossam Salameh, Wael Hashem, Amin A A Abualhommos, Omar Marouf, Hasan Khalili

{"title":"Infection-Triggered Disease Flare With Extraintestinal Manifestations in Trichohepatoenteric Syndrome: A Case Report.","authors":"Hatem M Taha, Mohammed AbuBaha, Hossam Salameh, Wael Hashem, Amin A A Abualhommos, Omar Marouf, Hasan Khalili","doi":"10.1155/carm/3024414","DOIUrl":"10.1155/carm/3024414","url":null,"abstract":"Trichohepatoenteric syndrome (THES) is a rare, autosomal recessive disorder characterized by early-onset diarrhea, woolly hair, and facial dysmorphism and variable multisystem involvement. Herein, we report a 17-year-old male with a genetically confirmed THES who presented with worsening diarrhea, fatigability, weight loss, and epigastric pain following intestinal amebiasis. His disease course was notable for extraintestinal and inflammatory manifestations, including chronic recurrent multifocal osteomyelitis, syringomyelia, and inflammatory bowel disease-such as enteropathy, highlighting a broad phenotype. The patient had intractable diarrhea since the age of 2, positive antiendomysial antibodies with no histologic confirmation, and a poor response to standard inflammatory bowel disease therapy. This case highlights the potential role of infectious triggers in precipitating disease flares in THES and demonstrates the diagnostic challenges posed by overlapping clinical and serological features with other autoimmune and inflammatory conditions. Our study broadens the clinical spectrum of THES and emphasizes the importance of detecting infection-related exacerbations and extraintestinal symptoms in adolescent survivors.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"3024414"},"PeriodicalIF":1.0,"publicationDate":"2026-05-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13238535/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148197237","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

Dyspnea and a Fistula: A Case Report of an Unusual Cardiac Connection. 呼吸困难并发瘘管：异常心脏连接1例报告。

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Case Reports in Medicine Pub Date : 2026-05-29 eCollection Date: 2026-01-01 DOI: 10.1155/carm/8082058

Muhammad Taimur, Khaled M Harmouch, Mohammed M Shaheriyar, Yasemin Bahar, Malitha Hettiarachchi, M Chadi Alraies

引用次数: 0

Transient Hyperprolactinemia Associated With Semaglutide in a Patient With Hashimoto's Thyroiditis. 桥本甲状腺炎患者短暂性高催乳素血症与西马鲁肽相关。

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Case Reports in Medicine Pub Date : 2026-05-27 eCollection Date: 2026-01-01 DOI: 10.1155/carm/3016596

Gabriela N F Guimarães

{"title":"Transient Hyperprolactinemia Associated With Semaglutide in a Patient With Hashimoto's Thyroiditis.","authors":"Gabriela N F Guimarães","doi":"10.1155/carm/3016596","DOIUrl":"10.1155/carm/3016596","url":null,"abstract":"Semaglutide, a glucagon-like peptide-1 (GLP-1) receptor agonist, is widely used for weight management and glycemic control. While its metabolic and gastrointestinal effects are well characterized, its potential influence on pituitary function remains underexplored. To our knowledge, this appears to be among the first published reports of transient hyperprolactinemia associated with semaglutide use in a middle-aged woman with well-controlled Hashimoto's thyroiditis. The patient developed prolactin levels approaching 100 ng/mL without clinical symptoms or MRI evidence of pituitary adenoma. Prolactin normalized after semaglutide discontinuation, without any pharmacologic intervention. This case raises the hypothesis that GLP-1 receptor agonism may influence prolactin regulation in susceptible individuals, potentially through central neuroendocrine pathways involving prolactin-releasing peptide (PrRP) signaling or dopaminergic modulation. Clinicians should consider medication-related hyperprolactinemia in the differential diagnosis when elevated prolactin is detected during GLP-1 receptor agonist therapy.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"3016596"},"PeriodicalIF":1.0,"publicationDate":"2026-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13213196/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148052832","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

Bullous Systemic Lupus Erythematosus: Clinical Presentation in Two Asian Cases. 大疱性系统性红斑狼疮：两个亚洲病例的临床表现。

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Case Reports in Medicine Pub Date : 2026-05-26 eCollection Date: 2026-01-01 DOI: 10.1155/carm/1980187

Phuong Thi Thanh Nguyen, Thuy Thi Phan Nguyen, Hoang Vu Nguyen, Anh Thi Minh Nguyen, Nhi Thi Uyen Pham

引用次数: 0

When Fruit Turns Harmful: Late Diagnosis of Hereditary Fructose Intolerance in a Pediatric Patient-A Case Report and Literature Review. 当水果变成有害的：遗传性果糖不耐受儿科患者的晚期诊断-一个病例报告和文献综述。

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Case Reports in Medicine Pub Date : 2026-05-26 eCollection Date: 2026-01-01 DOI: 10.1155/carm/9866803

Michelle Higuera Carrillo, Sara Vallejo Tamayo, Melquisedec Vargas Sandoval

{"title":"When Fruit Turns Harmful: Late Diagnosis of Hereditary Fructose Intolerance in a Pediatric Patient-A Case Report and Literature Review.","authors":"Michelle Higuera Carrillo, Sara Vallejo Tamayo, Melquisedec Vargas Sandoval","doi":"10.1155/carm/9866803","DOIUrl":"10.1155/carm/9866803","url":null,"abstract":"Introduction: Hereditary fructose intolerance is a rare but potentially severe and fatal disorder if it is not recognized promptly. It is caused by biallelic mutations in the ALDOB gene, which encodes the Aldolase B enzyme. Deficiency leads to intracellular accumulation of fructose-1-phosphate, causing secondary inhibition of gluconeogenesis and glucogenolysis and, consequently, hypoglycemia along with hepatic and renal dysfunction. The clinical presentation is variable and often nonspecific, making diagnosis challenging.Case report: A 12-year-old boy, born small for gestational age, with a history of hypotonia, laryngomalacia, and persistent hepatomegaly. During his first year of life, he developed an episode of acute hepatitis that required admission to a high-dependency unit due to acute liver failure. Over the following years, he experienced recurrent episodes of vomiting, pallor, diaphoresis, and malaise following the ingestion of sweet foods. During follow-up, he developed syncope secondary to severe hypoglycemia during a fructose tolerance test. Genetic testing revealed a homozygous pathogenic variant in the ALDOB gene, confirming the diagnosis of HFI. A strict diet excluding fructose, sucrose, and sorbitol was initiated, with close multidisciplinary follow-up.Conclusion: HFI represents a diagnostic challenge in pediatrics due to its clinical heterogeneity and its ability to mimic multiple hepatic and metabolic diseases. This case highlights the importance of considering HFI in patients with unexplained gastrointestinal and hepatic symptoms, even beyond infancy. Increased awareness and early diagnosis are critical to prevent misdiagnosis, avoid metabolic decompensation, and ensure excellent long-term outcomes.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"9866803"},"PeriodicalIF":1.0,"publicationDate":"2026-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13203788/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148041331","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

Intermittent Hypothermia in Hodgkin's Lymphoma: A Potential Indicator for Urgent Chemotherapy Initiation. 霍奇金淋巴瘤的间歇性低温：紧急化疗开始的潜在指标。

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Case Reports in Medicine Pub Date : 2026-05-26 eCollection Date: 2026-01-01 DOI: 10.1155/carm/5915477

Phillip Papayanis, Dina Nashed, Paul J Pecorin, Seo-Hyun Kim, Irene Dehghan-Paz

引用次数: 0

Early Posttransplant Lymphoproliferative Disorder and Cryptosporidiosis After Liver Transplantation. 肝移植术后早期淋巴增生性疾病和隐孢子虫病。

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Case Reports in Medicine Pub Date : 2026-05-23 eCollection Date: 2026-01-01 DOI: 10.1155/carm/5215414

Atousa Hakamifard, Sara Abolghasemi, Behzad Hatami, Forogh Mangeli, Mahnaz Momenzadeh

{"title":"Early Posttransplant Lymphoproliferative Disorder and Cryptosporidiosis After Liver Transplantation.","authors":"Atousa Hakamifard, Sara Abolghasemi, Behzad Hatami, Forogh Mangeli, Mahnaz Momenzadeh","doi":"10.1155/carm/5215414","DOIUrl":"10.1155/carm/5215414","url":null,"abstract":"Posttransplant lymphoproliferative disorder (PTLD) is a rare yet potentially fatal complication following liver transplantation. This condition is usually associated with Epstein-Barr virus (EBV) infection and profound immunosuppression. In this report, a young woman is introduced who had undergone liver transplantation due to autoimmune hepatitis and developed persistent diarrhea 3 months after the transplantation. Simultaneously, Cryptosporidium infection was diagnosed as the cause of the diarrhea. However, due to the persistence of symptoms and lack of full recovery with initial treatment, further diagnostic evaluations were conducted. Tissue biopsy confirmed the presence of diffuse large B-cell lymphoma (DLBCL) as an early-onset PTLD. Following the diagnosis of PTLD, a reduction in the intensity of immunosuppression and initiation of specific treatment, including the administration of rituximab, were undertaken. Nevertheless, despite the therapeutic interventions, the patient died due to disease progression. This case underscores the necessity of considering PTLD as a differential diagnosis in liver transplant patients presenting with unusual symptoms such as persistent diarrhea-even in the presence of a concurrent opportunistic infection like Cryptosporidium. Timely diagnosis and treatment of PTLD are crucial to improving the prognosis of these patients.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2026 ","pages":"5215414"},"PeriodicalIF":1.0,"publicationDate":"2026-05-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13197797/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"148013954","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