Medical Reports最新文献

{"title":"Beyond aneurysms, subarachnoid hemorrhage unraveling dural venous sinus thrombosis: A rare case report","authors":"Muhammad Osama ,&nbsp;Abdullah Abdullah ,&nbsp;Muhammad Noman ,&nbsp;Hafsa Khan ,&nbsp;Aishah Binte Nawaz ,&nbsp;Shahzaib Ahmed ,&nbsp;Farhan Shahzad","doi":"10.1016/j.hmedic.2025.100330","DOIUrl":"10.1016/j.hmedic.2025.100330","url":null,"abstract":"<div><h3>Background</h3><div>Dural venous sinus thrombosis (DVST) can be challenging for clinicians, especially when presenting with subarachnoid hemorrhage (SAH)-like symptoms. DVST presents with headache, vision loss, paralysis, and seizures.</div></div><div><h3>Case presentation</h3><div>We report a case of a 22-year-old male with left-sided weakness, severe headache, and loss of consciousness. Examination revealed left-sided weakness and optic disc blurring. Lumbar puncture showed numerous RBCs. MRI brain with Magnetic Resonance Venography (MRV) revealed “left transverse and sigmoid venous sinus thrombosis and minimal subarachnoid hemorrhage.” A diagnosis of SAH secondary to DVST was made. The patient was treated with Apixaban, resulting in the resolution of DVST and SAH.</div></div><div><h3>Discussion</h3><div>Dural venous sinus thrombosis (DVST) can pose a diagnostic challenge when it mimics subarachnoid hemorrhage (SAH), presenting with symptoms such as headache, blurred vision, stroke-like features, and seizures. The diagnostic workup includes blood tests, lumbar puncture, and Neuroimaging modalities such as Computed Tomography (CT)/ Computed Tomography Venography (CTV), Magnetic Resonance Imaging (MRI)/ Magnetic Resonance Venography (MRV), Cerebral Angiography, and Digital Subtraction Angiography (DSA). The management strategy for DVST includes supportive management, anticoagulant therapy, and endovascular thrombolysis. The same approach was followed in our case.</div></div><div><h3>Conclusion</h3><div>This case highlights the need for early recognition of DVST in SAH patients lacking aneurysmal components or basal cistern involvement and its management with anticoagulation if hemodynamically stable.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"13 ","pages":"Article 100330"},"PeriodicalIF":0.0,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144711185","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}

{"title":"Central nervous system demyelination associated with anti-thyroid peroxidase antibodies: Insights from two cases and a literature review","authors":"Arpan Mitra,&nbsp;Niraj Kumar Srivastava ,&nbsp;Damini Shukla,&nbsp;Anand Kumar,&nbsp;Deepika Joshi,&nbsp;Vijaya Nath Mishra,&nbsp;Abhishek Pathak","doi":"10.1016/j.hmedic.2025.100329","DOIUrl":"10.1016/j.hmedic.2025.100329","url":null,"abstract":"<div><h3>Introduction</h3><div>Central nervous system (CNS) demyelination, typically associated with autoimmune disorders like multiple sclerosis (MS) or neuromyelitis optica spectrum disorder (NMOSD), has recently been reported in association with elevated anti-thyroid peroxidase (anti-TPO) antibodies. This case report describes two patients who presented with demyelinating CNS lesions and elevated anti-TPO antibody levels, emphasizing the potential role of thyroid autoimmunity in CNS pathology.</div></div><div><h3>Case report</h3><div>The cases are noteworthy due to their rarity and the comprehensive exclusion of other demyelinating conditions. They add to the limited body of evidence supporting the association between anti-TPO antibodies and CNS demyelination and emphasize the importance of considering Autoimmune Thyroid Disorder (ATD) in the differential diagnosis of demyelinating disorders.</div></div><div><h3>Conclusion</h3><div>Further research is needed to elucidate the mechanisms by which anti-TPO antibodies might be associated with CNS demyelination. Prospective studies with larger cohorts could clarify the prevalence and significance of thyroid autoimmunity in demyelinating diseases and its potential role as a therapeutic target. These insights emphasize the importance of recognizing autoimmune thyroiditis as a potential contributor to CNS demyelination and the need for heightened awareness among clinicians when evaluating atypical demyelinating cases.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"13 ","pages":"Article 100329"},"PeriodicalIF":0.0,"publicationDate":"2025-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144714078","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}

{"title":"Diagnostic confusion of COVID-19 versus plastic bronchitis in a patient with trisomy 21: A case report","authors":"Maricruz J. Montelongo-Rodriguez ,&nbsp;Julio C. Acuña-Castro ,&nbsp;Antonio Muñiz-Buenrostro","doi":"10.1016/j.hmedic.2025.100328","DOIUrl":"10.1016/j.hmedic.2025.100328","url":null,"abstract":"<div><h3>Introduction</h3><div>Plastic bronchitis (PB) is a rare but potentially life-threatening pulmonary disorder characterized by the formation of cohesive bronchial casts capable of obstructing airways and causing severe respiratory distress. Although it is more frequently associated with pediatric populations, particularly those with congenital heart disease, PB has been increasingly recognized in adults, often with diverse and underrecognized etiologies. Distinguishing between inflammatory (Type I) and lymphatic (Type II) cast subtypes is critical for guiding diagnosis and management. This report describes a rare case of adult-onset PB in a patient with trisomy 21, an association not previously well-documented.</div></div><div><h3>Case presentation</h3><div>A 30-year-old female with trisomy 21 presented with acute hypoxemia, perioral cyanosis and productive cough with expectoration of whitish bronchial casts. She had a prior history of COVID-19 pneumonia but no congenital heart disease or recurrent infections. Initial chest imaging revealed mosaic perfusion and pericardial effusion, and bronchoscopy identified whitish filamentous material partially obstructing the bronchi. Histopathological examination of the casts revealed fibrin bands with inflammatory cells, consistent with Type I inflammatory PB. The patient responded initially to corticosteroid therapy; however, symptoms recurred upon withdrawal, necessitating repeated steroid courses. Bronchoscopic removal of casts led to symptomatic improvement. No alternative infectious or structural causes were identified.</div></div><div><h3>Conclusion</h3><div>This case highlights the need to consider plastic bronchitis in the differential diagnosis of adults presenting with acute hypoxemic respiratory failure, particularly when clinical and imaging findings mimic COVID-19 pneumonia. It underscores the importance of combining imaging, bronchoscopy, and histopathology for diagnosis, and the therapeutic role of corticosteroids in managing inflammatory PB. To our knowledge, this is one of the first reported cases of PB in an adult with trisomy 21, expanding awareness of its occurrence beyond traditional pediatric and congenital heart disease contexts.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"13 ","pages":"Article 100328"},"PeriodicalIF":0.0,"publicationDate":"2025-07-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144702506","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}

{"title":"Unveiling a novel AIMP2 c.157 C>T variant in a Moroccan patient with hypomyelinating leukodystrophy type 17: A case report and insights from a literature review","authors":"Amal Ouskri ,&nbsp;Abdelhamid Bouramtane ,&nbsp;Hinde Elmouhi ,&nbsp;Rania Bouchikhi ,&nbsp;Yasser Ali Elasri ,&nbsp;Sanae Chaouki ,&nbsp;Laila Bouguenouch ,&nbsp;Karim Ouldim","doi":"10.1016/j.hmedic.2025.100326","DOIUrl":"10.1016/j.hmedic.2025.100326","url":null,"abstract":"<div><div>Hypomyelinating Leukodystrophy Type 17 is a rare autosomal recessive neurodevelopmental disorder characterized by defective myelin formation and progressive neurological impairment. We report the first genetically confirmed case of HLD17 in Africa, associated with a homozygous <em>AIMP2</em> (NM_006303.4): c.157 C&gt;T [p.(Gln53Ter)] nonsense mutation. This variant is predicted to result in a truncated protein, likely impairing the function of the multi-tRNA synthetase complex. A review of the literature was conducted using PubMed, ScienceDirect, and the Cochrane Library, retrieving two articles reporting four cases of HLD17. The clinical phenotype of HLD17 shows a consistent set of features in all genetically confirmed cases (6/6), including absent speech, severe global developmental delay, microcephaly, and growth impairment. Feeding difficulties, inability to walk, intellectual disability, and seizures were reported in all evaluable cases (5/5). Spasticity was seen in 5 of 6 cases. Less common findings include kyphoscoliosis (3/5), hirsutism (3/3), hyperreflexia (3/3), and flexion contractures (2/4). Craniofacial anomalies such as anteverted nares and mandibular prognathia are rare, reported in only 1 of 3 or 4 cases, respectively. The disorder typically begins in infancy. Neurophysiological and neuroimaging abnormalities, such as cerebral and cerebellar atrophy, suggest visual pathway involvement and a progressive neurodegenerative course. All reported HLD17 cases carry biallelic pathogenic nonsense AIMP2 variants predicted to cause loss of function; frameshift, splice site, and missense variants have not been reported in affected patients in the literature. This study contributes new insights into the clinical, neuroimaging, and genetic features of HLD17 for accurate diagnosis and better management.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"13 ","pages":"Article 100326"},"PeriodicalIF":0.0,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144702604","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}

{"title":"A 6-year-old girl with parsonage-turner syndrome: A mysterious case of sudden bilateral arm weakness, a case report","authors":"Sikandar Ajmal Abbasi ,&nbsp;Muhammad Usama bin Shabbir ,&nbsp;Siham Alshawamreh ,&nbsp;Daniya Jawed ,&nbsp;Kamran khan ,&nbsp;Mohsin Abbas","doi":"10.1016/j.hmedic.2025.100323","DOIUrl":"10.1016/j.hmedic.2025.100323","url":null,"abstract":"<div><div>Parsonage-Turner Syndrome is a rare idiopathic neurological condition characterized by acute shoulder pain, arm and shoulder atrophy, and muscle weakness. PTS is uncommon, has a wide range of clinical presentations, makes diagnosis difficult, and has no established course of treatment. Here, we present a case of a 6-year-old female diagnosed with bilateral brachial plexus pan plexopathy and PTS. Initial symptoms included acute shoulder pain and subsequent motor deficits in both arms, with no recognized mechanism of damage. The treatment difficulties and clinical complexity related to pediatric PTS are highlighted in this case report. To improve knowledge of the condition's various clinical manifestations, therapeutic responses, and long-term consequences, it is imperative to document such cases.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"13 ","pages":"Article 100323"},"PeriodicalIF":0.0,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144724770","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}

{"title":"Unmasking the unusual: When common symptoms hide a rare condition","authors":"Pratishtha Sengar ,&nbsp;Bitan Naik ,&nbsp;Vaibhav Pandey ,&nbsp;Rahul Rahul","doi":"10.1016/j.hmedic.2025.100322","DOIUrl":"10.1016/j.hmedic.2025.100322","url":null,"abstract":"<div><div>A 2-year-old male child presented with mass in the lower back region from 6 months of age. Radiological investigations revealed well marginated lobulated heterogenous predominantly hyperintense lesion suggestive of sacrococcygeal rhabdomyosarcoma. Histopathology revealed a heterogenous tumor comprising of areas of alveolar rhabdomyosarcoma with interspersed ganglioneuroblastoma- schwannian stroma poor areas. Immunological examination confirmed the diagnosis of ectomesenchymoma.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"13 ","pages":"Article 100322"},"PeriodicalIF":0.0,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144702507","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}

{"title":"Orofacial abscesses: An unusual clinical presentation of melioidosis (case report)","authors":"Henry Guillaume ,&nbsp;Ruch Yvon ,&nbsp;Bodin Frédéric ,&nbsp;Dissaux Caroline","doi":"10.1016/j.hmedic.2025.100320","DOIUrl":"10.1016/j.hmedic.2025.100320","url":null,"abstract":"<div><div>Melioidosis is a tropical infectious disease caused by <em>Burkholderia pseudomallei,</em> an endemic bacterium in Southeast Asia and Northern Australia, with only a few imported cases reported in non-endemic areas. This article aims to describe an unusual oral and facial presentation of melioidosis and to give an update on this disease, which is relatively unknown in Europe. A 57-year-old man, returning from Thailand, developed a submental abscess and satellite suppurative lymphadenopathy, resulting in odynophagia. Diagnosis depends on a proper identification in systematic bacteriological samples. Surgical drainage of the submental abscess associated with prolonged and targeted antibiotherapy (intravenous ceftazidime and oral trimethoprim/sulfamethoxazole) led to complete recovery. Optimal staging and prolonged follow-up must be pursued for early detection of melioidosis reccurences. As a potential life-threatening infection, early diagnosis, staging, and appropriate treatment are crucial.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"13 ","pages":"Article 100320"},"PeriodicalIF":0.0,"publicationDate":"2025-07-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144702505","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}

{"title":"Autoimmune pancreatitis: A series of 10 cases","authors":"H. Slaoui ,&nbsp;S. Beyyato ,&nbsp;I. Chaouche ,&nbsp;H. Ouazzani ,&nbsp;O. Marghich ,&nbsp;A. Akammar ,&nbsp;N. El Bouardi ,&nbsp;B. Alami ,&nbsp;H. Abid ,&nbsp;A. Elmekkaoui ,&nbsp;K. Ibn Majdoub Hassani ,&nbsp;M. Boubbou ,&nbsp;M. El Abkari ,&nbsp;S.A. Ibrahimi ,&nbsp;M. Maâroufi ,&nbsp;M.Y. Alaoui Lamrani","doi":"10.1016/j.hmedic.2025.100324","DOIUrl":"10.1016/j.hmedic.2025.100324","url":null,"abstract":"<div><div>Autoimmune pancreatitis (AIP) is an uncommon form of chronic pancreatitis—representing 5–10 % of cases—classified into two subtypes: type 1, associated with IgG4-related disease and systemic involvement, and type 2, limited to the pancreas. It is characterized by lymphoplasmacytic fibroinflammatory changes that may closely mimic pancreatic carcinoma on clinical and imaging grounds. Early recognition of its characteristic features is therefore essential to avoid unnecessary surgical resection. In this retrospective case series, we describe ten patients, mostly men, diagnosed using contrast-enhanced CT or MRI, serum IgG4 measurement, and, in two cases, pancreatic biopsy. Imaging revealed typical diffuse “sausage-shaped” enlargement with delayed enhancement in most patients and a focal enlargement in three patients. All nine patients with type 1 AIP demonstrated elevated IgG4 levels, while the type 2 case showed normal serum values but histological confirmation of Lymphocytes and neutrophils (GELs). Initiation of corticosteroid therapy led to rapid symptomatic relief, radiologic resolution of pancreatic abnormalities, and normalization of laboratory markers in all patients. These findings underscore the value of the diagnostic approach—combining imaging patterns, serology, and selective histopathology—to distinguish AIP from malignancy, guide prompt steroid treatment, and prevent invasive procedures.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"13 ","pages":"Article 100324"},"PeriodicalIF":0.0,"publicationDate":"2025-07-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144702504","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}

{"title":"CNS involvement in IgG4-RD presenting as DI associated with CVT","authors":"Sanchit Shailendra Chouksey ,&nbsp;Akansha Jain ,&nbsp;Varun Kumar Singh ,&nbsp;Ritesh Kumar ,&nbsp;Rameshwar Nath Chaurasia ,&nbsp;Deepika Joshi ,&nbsp;Pratishtha Sengar","doi":"10.1016/j.hmedic.2025.100318","DOIUrl":"10.1016/j.hmedic.2025.100318","url":null,"abstract":"<div><div>Immunoglobulin G4-related disease (IgG4-RD) is a multisystem disease. Central nervous system (CNS) involvement in IgG4-RD is rare. We report a case of IgG4-RD with a rare constellation of spectrum of neurological manifestations. A young male presented with right hemicranial headache, bilateral blurred vision, polydipsia, and polyuria. MRI brain revealed hypertrophic cranial pachymeningitis, hypophysitis, and left transverse and sigmoid sinus thrombosis. Serum IgG4 level was elevated suggesting possibility ofIgG4-RD. Patient was managed with steroid, anticoagulant and desmopressin leading to improvement in headache, polydipsia, polyuria, and visual impairment. One must search for associated venous sinus thrombosis and pituitary dysfunction in a case of IgG4-RD with hypertrophic pachymeningitis.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"13 ","pages":"Article 100318"},"PeriodicalIF":0.0,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144686812","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}

{"title":"Recurrent extrahepatic papillary cholangiocarcinoma with CCNE1 amplification, TP53 mutation and CNS involvement a capecitabine exceptional response case report","authors":"Veronica Salais Michaus ,&nbsp;Javier Cervantes-Bojalil ,&nbsp;José O. Navarro-Fernández ,&nbsp;Edith A. Fernandez-Figueroa ,&nbsp;Roberto Herrera-Goepfert ,&nbsp;Maria Fernanda Tejada-Pineda ,&nbsp;Erika Ruiz-Garcia","doi":"10.1016/j.hmedic.2025.100316","DOIUrl":"10.1016/j.hmedic.2025.100316","url":null,"abstract":"<div><div>Cholangiocarcinoma (CCA) is a heterogeneous disease; the incidence of brain metastases from CCA ranges from 0.15 % to 1.4 %. We present the case of a 50-year-old woman with recurrent extrahepatic cholangiocarcinoma involving the central nervous system (CNS) and improvement in overall survival (OS). Next-Generation Sequencing (NGS) was performed, revealing <em>CCNE1</em> amplification and a <em>TP53</em> mutation.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100316"},"PeriodicalIF":0.0,"publicationDate":"2025-07-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144780189","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}