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Severe limb malformations in a WDR37-related disorder: A report of a rare case wdr37相关疾病的严重肢体畸形：罕见病例报告

Medical Reports Pub Date : 2026-02-01 Epub Date: 2025-12-21 DOI: 10.1016/j.hmedic.2025.100414

Mayar M. Karaki , Shadi A. Abu Isneina , Masa A. Zghyer , Seema A. Ghaith , Dania N. Dawadi , Rawan H. Alhroub

{"title":"Severe limb malformations in a WDR37-related disorder: A report of a rare case","authors":"Mayar M. Karaki , Shadi A. Abu Isneina , Masa A. Zghyer , Seema A. Ghaith , Dania N. Dawadi , Rawan H. Alhroub","doi":"10.1016/j.hmedic.2025.100414","DOIUrl":"10.1016/j.hmedic.2025.100414","url":null,"abstract":"<div><div>WDR37-related disorders are rare multisystem conditions primarily involving the brain, eyes, and heart, with skeletal features such as limb or spine defects having been rarely reported. Here, we present a 4-month-old male infant of Arab ethnicity with a new heterozygous variant in <em>WDR37</em> (c.8 C>G, p.Thr3Arg) exhibiting severe skeletal malformations, including left upper-limb amelia, right radial aplasia with wrist drop, a split foot, a rocker-bottom foot, cervical and thoracic hemivertebrae with kyphoscoliosis, and a syrinx. Brain imaging also showed ventriculomegaly and dysgenesis of the corpus callosum; he additionally had distinctive facial features and congenital heart defects. Whole-exome sequencing revealed additional variants of uncertain significance in <em>ARF3</em> and <em>ANKRD17</em>, raising the possibility of an oligogenic effect. The infant's presentation significantly broadens the <em>WDR37</em> phenotype to include dramatic limb and spinal malformations and highlights the gene as a potential cause of complex skeletal disorders, warranting deeper study of oligogenic roles.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100414"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145924682","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Cavernous venous malformation of the orbit: Case report and review of literature 眶部海绵状静脉畸形：病例报告及文献复习

Medical Reports Pub Date : 2025-12-01 Epub Date: 2025-08-01 DOI: 10.1016/j.hmedic.2025.100334

Z. Ezzoulali , Y. Mouhcine , I. Chaouche , H. Ouazzani , A. Akammar , N. El Bouardi , Y. Alaoui Lamrani , M. Boubbou , M. Maaroufi , B. Alami

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Atypical presentation of dengue fever with unilateral massive hemothorax: A case report 非典型登革热合并单侧大量血胸1例

Medical Reports Pub Date : 2025-12-01 Epub Date: 2025-09-07 DOI: 10.1016/j.hmedic.2025.100366

Haris Khan , Ahsan Khurshid , Hafiz Ahmad Iqrash Qureshi , Romaisa Malik

{"title":"Atypical presentation of dengue fever with unilateral massive hemothorax: A case report","authors":"Haris Khan , Ahsan Khurshid , Hafiz Ahmad Iqrash Qureshi , Romaisa Malik","doi":"10.1016/j.hmedic.2025.100366","DOIUrl":"10.1016/j.hmedic.2025.100366","url":null,"abstract":"<div><div>Dengue fever is a mosquito-transmitted fever, resulting from infection by an RNA virus. Each year, almost 100–400 million new cases of dengue are reported across the globe, with 25 % of them producing symptoms. WHO 2009 classification categorizes dengue into three groups: dengue without warning signs (mild symptoms without plasma leakage), dengue with warning signs (mucosal bleeding, rising hematocrit and thrombocytopenia), and severe dengue (severe bleeding, shock or organ impairment). Although in most cases, it presents with fever, body aches and a maculopapular rash (typical presentation), atypical manifestation of this condition can also be rarely encountered. Here, we present a case of a 20-year-old male, who demonstrated an atypical presentation of dengue fever, confirmed by positive IgM serology. He had developed progressive shortness of breath, in addition to fever and body pains. Later, chest x-ray and thoracentesis revealed a massive hemothorax. He was managed with tube thoracostomy and intravenous fluids, which lead to a gradual improvement of his condition. Through this case, we highlight the significance of early recognition of the atypical presentations of dengue fever.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100366"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145026604","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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De novo cardiac sarcoidosis presenting as heart failure and resistant ventricular tachycardia": A case report 新发心脏结节病表现为心力衰竭和顽固性室性心动过速1例

Medical Reports Pub Date : 2025-12-01 Epub Date: 2025-11-19 DOI: 10.1016/j.hmedic.2025.100391

Omar F. Hassan , Mohammad Numan , Syed Rizvi

引用次数: 0

Management of glyphosate poisoning with continuous renal replacement therapy (CRRT): A case report 持续肾替代治疗（CRRT）治疗草甘膦中毒1例报告

Medical Reports Pub Date : 2025-12-01 Epub Date: 2025-08-28 DOI: 10.1016/j.hmedic.2025.100355

Ramesh Yelanati , Dharanindra Moturu , Ramesh Babu Potineni , Supriya Rayana , Kondaveeti Devaki , Mohammad Noor Shaik

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A rare case of intussusception in an adult caused by a small intestinal inflammatory fibroid polyp 一个罕见的病例肠套叠在成人引起小肠炎性肌瘤息肉

Medical Reports Pub Date : 2025-12-01 Epub Date: 2025-11-18 DOI: 10.1016/j.hmedic.2025.100393

Dennis Poon , Hilary Kok

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Ictal whistling as the first clinical sign of amygdala onset seizure on sEEG, a review of the literature and case report 耳鸣作为sEEG中杏仁核发作的首个临床症状，文献回顾及病例报告

Medical Reports Pub Date : 2025-12-01 Epub Date: 2025-08-25 DOI: 10.1016/j.hmedic.2025.100348

Ahmad Yusuf Solaiman , Mohammad Alkhoujah , Mo'men K. Kahhaleh

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Exploring the coexistence of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis and demyelinating disorders in a pediatric case 探讨抗n -甲基- d -天冬氨酸受体（NMDAR）脑炎和脱髓鞘疾病在儿科病例中的共存

Medical Reports Pub Date : 2025-12-01 Epub Date: 2025-09-22 DOI: 10.1016/j.hmedic.2025.100377

Louise Scridelli Tavares, Felipe Augusto Folha Santos, Marianna Pinheiro Moraes de Moraes, Ricardo Pinho Silva, Marcelo de Melo Aragão, Enedina Maria Lobato de Oliveira

{"title":"Exploring the coexistence of anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis and demyelinating disorders in a pediatric case","authors":"Louise Scridelli Tavares, Felipe Augusto Folha Santos, Marianna Pinheiro Moraes de Moraes, Ricardo Pinho Silva, Marcelo de Melo Aragão, Enedina Maria Lobato de Oliveira","doi":"10.1016/j.hmedic.2025.100377","DOIUrl":"10.1016/j.hmedic.2025.100377","url":null,"abstract":"<div><div>Anti-N-methyl-D-aspartate receptor (NMDAR) encephalitis is an immune-mediated disorder characterized by a complex neuropsychiatric syndrome and the presence of cerebrospinal fluid antibodies targeting the GluN1 subunit of the NMDAR. While well-documented, its association with demyelinating disorders—such as neuromyelitis optica, myelitis, and acute disseminated encephalomyelitis—remains rare, particularly in pediatric cases. Here, we present an unusual case of a 7-year-old female who initially exhibited area postrema syndrome, followed by acute brainstem syndrome and encephalopathy. Within 2 years, she experienced two relapses marked by longitudinally extensive transverse myelitis, seizures, and diencephalic syndrome. Neuroimaging revealed mild contrast-enhancing lesions in both infratentorial and supratentorial regions. Despite repeated testing, both antibodies to myelin-oligodendrocyte glycoprotein and aquaporin-4 remained negative. Subsequently, a comprehensive antibody testing protocol, including indirect immunohistochemistry on rat brain tissue and an extensive panel of both fixed and live cell-based assays was requested, confirming the presence of anti-NMDAR antibodies, along with superimposed reactivity to cerebellar granular cells. This report explores the diagnostic and therapeutic complexities of coexisting anti-NMDAR encephalitis and demyelinating disorders. The rarity of this overlap and its distinct clinical features underscore the need for further research into the immunological mechanisms underlying these conditions.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100377"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145120313","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

引用次数: 0

Ceftriaxone-induced gallbladder pseudolithiasis in a child: A question of confirmation? 头孢曲松诱发的儿童胆囊假性结石：一个确认问题？

Medical Reports Pub Date : 2025-12-01 Epub Date: 2025-11-19 DOI: 10.1016/j.hmedic.2025.100397

Abdulaziz Hussein

{"title":"Ceftriaxone-induced gallbladder pseudolithiasis in a child: A question of confirmation?","authors":"Abdulaziz Hussein","doi":"10.1016/j.hmedic.2025.100397","DOIUrl":"10.1016/j.hmedic.2025.100397","url":null,"abstract":"<div><h3>Background</h3><div>Ceftriaxone is a commonly prescribed antibiotic in pediatric medicine, but its association with gallbladder pseudolithiasis is not well-documented.</div></div><div><h3>Case presentation</h3><div>A four-year-old boy was admitted with lobar pneumonia presenting with fever, cough, and abdominal pain. Because of the severity of his pneumonia, which required inpatient management with parenteral antibiotics, the child was started on intravenous ceftriaxone. The patient had no significant past medical or family history and was not on any medications prior to admission. He was started on ceftriaxone, an injectable antibiotic, at a dosage of 60 mg/kg/day after a chest X-ray confirmed lobar pneumonia in the lower left lung. However, more than five days of treatment in hospital following developed gastrointestinal symptoms, including abdominal discomfort, nausea, and constipation, laboratory tests showed mildly elevated liver enzymes (ALT 45 U/L, AST 50 U/L, ALP 150 U/L, total bilirubin 1.5 mg/dL) and CBC of 14,000 cells/mm³ , while hemoglobin and platelets were normal. C-reactive protein was elevated, and electrolytes were within normal limits. An abdominal ultrasound conducted, revealed the presence of multiple echogenic foci in the gallbladder, which is indicative of pseudolithiasis, but no indicators of cholecystitis. Symptoms resolved after discontinued this antibiotic and replaced with another suitable one, with follow-up ultrasound confirming resolution.</div></div><div><h3>Conclusion</h3><div>This case underscores the need for awareness of ceftriaxone's potential side effects, including gallbladder pseudolithiasis in pediatric patients. Further investigation is warranted to elucidate the mechanisms behind this association and to guide clinical practice.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100397"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145578923","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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Right ventricular metastasis in a patient with stage iv small bowel neuroendocrine tumor – a case report 4期小肠神经内分泌肿瘤患者右心室转移1例

Medical Reports Pub Date : 2025-12-01 Epub Date: 2025-09-11 DOI: 10.1016/j.hmedic.2025.100368

Jahnavi Ethakota , Haseeb Khan Tareen , Sakshi Bai , Haris Bin Tahir , Muhammad Fawad Ashraf , Hafsa Ahmed , Hafsa Fayyaz

{"title":"Right ventricular metastasis in a patient with stage iv small bowel neuroendocrine tumor – a case report","authors":"Jahnavi Ethakota , Haseeb Khan Tareen , Sakshi Bai , Haris Bin Tahir , Muhammad Fawad Ashraf , Hafsa Ahmed , Hafsa Fayyaz","doi":"10.1016/j.hmedic.2025.100368","DOIUrl":"10.1016/j.hmedic.2025.100368","url":null,"abstract":"<div><div>Cardiac metastasis from neuroendocrine tumors (NETs) is exceptionally rare and poses diagnostic and therapeutic challenges. We report this case to highlight that cardiac metastases from NETs can be entirely silent yet clinically significant, with early recognition relying on vigilant, multimodal imaging rather than symptom-driven evaluation. We present the case of a 73‑year‑old man who was incidentally found to have a right ventricular mass during lung cancer screening. Imaging studies, including CT, cardiac MRI, and Ga‑68 DOTATATE PET‑CT, revealed a right ventricular apical mass with attachment to the interventricular septum, mesenteric primary tumor, and hepatic metastases. Pathological analysis confirmed a well‑differentiated NET with strong synaptophysin positivity. Despite asymptomatic presentation, he was initiated on octreotide therapy for stage IV disease. Six‑month follow‑up demonstrated stable disease. This case adds to the very limited literature on asymptomatic cardiac metastases from NETs by uniquely demonstrating an incidentally detected right ventricular lesion identified on screening CT rather than targeted cardiac evaluation, with no evidence of carcinoid valvular involvement. In particular, the septal attachment without valvular disease contrasts with most previously reported cardiac NET metastases, which commonly involve valvular structures. Furthermore, this case demonstrates the importance of multimodal imaging in detecting occult cardiac metastasis and highlights the role of somatostatin analogs in managing metastatic NETs. These findings highlight the importance of systematically reviewing cardiac structures during routine imaging to enhance early detection of clinically silent cardiac metastases in NETs.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100368"},"PeriodicalIF":0.0,"publicationDate":"2025-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145109438","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

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