Medical Reports最新文献

{"title":"Severe agranulocytosis as the first manifestation of secondary Sjögren’s syndrome masked by iatrogenic Cushing’s: A diagnostic challenge","authors":"Sofia Uribe-Toscano ,&nbsp;Alberto Gudiño-Ochoa","doi":"10.1016/j.hmedic.2025.100319","DOIUrl":"10.1016/j.hmedic.2025.100319","url":null,"abstract":"<div><div>Agranulocytosis is a rare but potentially fatal hematologic condition characterized by a marked reduction in absolute neutrophil count (ANC <span><math><mrow><mo>&lt;</mo><mn>100</mn></mrow></math></span> cells//<span><math><mi>μ</mi></math></span>L). While most cases are drug-induced, autoimmune etiologies must be considered in refractory or atypical presentations. We report the case of a 54-year-old male with untreated rheumatoid arthritis who presented with persistent fever and was found to have severe agranulocytosis (ANC = 20 cells//<span><math><mi>μ</mi></math></span>L) and thrombocytopenia, without an apparent infectious focus. The patient had a history of chronic unsupervised intake of Ardosons (a combination of betamethasone, indomethacin, and methocarbamol), and physical examination revealed cushingoid features suggestive of iatrogenic Cushing’s syndrome. Initial management with empirical broad-spectrum antibiotics and granulocyte-colony stimulating factor failed to improve the cytopenias. Immunologic testing showed high-titer ANA with mixed patterns, strong anti-SSA positivity, and elevated C-reactive protein. The erythrocyte sedimentation rate was undetectable, likely due to steroid suppression. Systemic lupus erythematosus was ruled out based on ACR/EULAR 2019 criteria. A diagnosis of Secondary Sjögren’s syndrome , likely secondary to untreated rheumatoid arthritis, was established by the rheumatology team. The patient responded favorably to high-dose intravenous methylprednisolone followed by immunomodulatory therapy. The patient responded favorably to high-dose intravenous methylprednisolone followed by immunomodulatory therapy. This case highlights the importance of considering autoimmune causes in the differential diagnosis of cytopenias, particularly in patients with underlying connective tissue diseases and chronic glucocorticoid exposure. Functional autoimmune syndromes may present atypically and require high clinical suspicion for timely diagnosis and treatment.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100319"},"PeriodicalIF":0.0,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144827478","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":"Cutaneous tuberculosis revealing disseminated infection in a young patient with myelodysplastic syndrome: A case report","authors":"Mahrez Fissah ,&nbsp;Meriem Charifi,&nbsp;Hassina Chicha,&nbsp;Djihane Bouteflika,&nbsp;Ahcene Chibane","doi":"10.1016/j.hmedic.2025.100337","DOIUrl":"10.1016/j.hmedic.2025.100337","url":null,"abstract":"<div><div>The association of cutaneous tuberculosis and myelodysplastic syndrome is rare, especially in young patients, and its diagnosis can be difficult given the clinical polymorphism. Our 19-year-old patient presented with gum-like lesions and scrofulodermal lesions, initially related to histiocytosis. After some misdiagnosis, it was only after repeated biopsies and expert histopathological examination that we were able to diagnose cutaneous tuberculosis. Further investigations revealed dissemination of the tuberculosis, particularly to the lungs and lymph nodes. Our observation draws attention to the diagnostic difficulty because tuberculosis can simulate many diseases and also because this extra-pulmonary involvement, announced as benign, can herald disseminated tuberculosis which can be fatal. In countries with a high prevalence of tuberculosis, clinicians must maintain a high index of suspicion for TB in patients with MDS who present with unexplained skin lesions.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100337"},"PeriodicalIF":0.0,"publicationDate":"2025-08-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144780188","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":"Cavernous venous malformation of the orbit: Case report and review of literature","authors":"Z. Ezzoulali ,&nbsp;Y. Mouhcine ,&nbsp;I. Chaouche ,&nbsp;H. Ouazzani ,&nbsp;A. Akammar ,&nbsp;N. El Bouardi ,&nbsp;Y. Alaoui Lamrani ,&nbsp;M. Boubbou ,&nbsp;M. Maaroufi ,&nbsp;B. Alami","doi":"10.1016/j.hmedic.2025.100334","DOIUrl":"10.1016/j.hmedic.2025.100334","url":null,"abstract":"<div><div>Cavernous venous malformation of the orbit (CVM) is a benign, vascular-derived lesion, with slow venous flow. Epidemiologically, it occurs more often in women with peak incidence during the fourth and fifth decades of life. These lesions can be asymptomatic, being discovered unintentionally in imaging exams or symptomatic, indicated mainly by the presence of proptosis, diplopia, and visual disturbances by optic nerve compression. Imaging techniques contributes greatly in the diagnosis of CVM, helping to differentiate this benign lesion from malignant one. CT and MRI scans allow a precise diagnosis to be made in the vast majority of cases. Surgical treatment is required in case of symptomatic lesions, the vital and functional prognosis is generally good, and the recurrence is almost exceptional. We report a 47-year-old patient with progressive left proptosis secondary to orbital cavernous venous malformation.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100334"},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144749436","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":"Hodgkin’s lymphoma in a 3-year-old toddler: A case report and brief review of literature","authors":"Birhanu Kassie Reta ,&nbsp;Dirar Medhanie Gebremedhin ,&nbsp;Gebremedhn Gebremichael Lema ,&nbsp;Yordanos Birhane Gebrecherkos ,&nbsp;Mesfin Asefa Tola ,&nbsp;Samrawit Goshu Tsegaye ,&nbsp;Hindeya Hailu Hagos","doi":"10.1016/j.hmedic.2025.100333","DOIUrl":"10.1016/j.hmedic.2025.100333","url":null,"abstract":"<div><div>Hodgkin’s lymphoma (HL) is exceptionally rare in the under-5 age group. The present case is a 3-year-old male toddler who presented with a painless cervical lymphadenopathy of 4-week duration. Fine needle aspiration cytology and histopathologic examination from the lymph node concluded classical Hodgkin’s lymphoma of the mixed cellularity subtype. Immunohistochemistry demonstrated that the neoplastic cells are positive for CD30, CD15 and CD20 and negative for CD45, which further supported the diagnosis of classical HL. The patient is treated with the ABVD chemotherapy regimen, with complete resolution after four cycles. The aim of this case report is to highlight that Hodgkin’s lymphoma can occur in under 5 children so that the clinicians and pathologists will consider it as a possibility to facilitate early diagnosis and treatment.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100333"},"PeriodicalIF":0.0,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144757446","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":"Atypical ataxic-spastic syndrome with SYNE1 variant association: Coincidence or contribution?","authors":"Roberta Bonomo ,&nbsp;Antonio E. Elia ,&nbsp;Giulio Bonomo ,&nbsp;Guglielmo Iess ,&nbsp;Giuseppe M.V. Barbagallo ,&nbsp;Paolo Ferroli ,&nbsp;Gennaro Bussone","doi":"10.1016/j.hmedic.2025.100336","DOIUrl":"10.1016/j.hmedic.2025.100336","url":null,"abstract":"<div><div>Spinocerebellar ataxias encompass a group of hereditary ataxias notable for their degenerative changes in the cerebellum, brainstem, and spinal cord. This case study details the clinical course of a 42-year-old male presenting with an ataxic-spastic syndrome, harboring a homozygous variant in the <em>SYNE1</em> gene, classically associated with Autosomal Recessive Spinocerebellar Ataxia type 8 (SCAR8), who also exhibited unusual bilateral thalamic and midbrain hyperintensities. While the significance of this imaging finding remains unclear, it raises the question of whether it represents a rare manifestation of <em>SYNE1</em>-related ataxic-spastic syndrome or an incidental, unrelated observation. The patient's condition deteriorated progressively, characterized by a relevant decline in motor functions and speech articulation, prompting further neurological evaluation and psychomotor rehabilitation. This case underscores the importance of prioritizing detailed clinical assessment while cautiously integrating genetic findings, particularly when variants are of uncertain relevance, in atypical presentations of ataxia. It also highlights the need for continued research into the broader phenotypic spectrum, pathogenic mechanisms, and potential targeted therapies.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100336"},"PeriodicalIF":0.0,"publicationDate":"2025-07-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144827278","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":"Acute hepatitis A and E virus dual infection in a beta thalassemia major child complicated with hypocalcemia and secondary hyperparathyroidism: A case report","authors":"Ayesha Mukhtar Rathore,&nbsp;Junaid Saleem,&nbsp;Inzimam ul Haq","doi":"10.1016/j.hmedic.2025.100331","DOIUrl":"10.1016/j.hmedic.2025.100331","url":null,"abstract":"<div><div>Hepatitis A (HAV) and E (HEV) dual infection, though rare and self-limiting, can lead to acute liver failure, particularly in high-risk patients such as those with beta-thalassemia major. This case report presents a 16-year-old male with beta-thalassemia major and no prior liver disease who presented to the outpatient department with a week's history of low-grade fever, jaundice, and dyspnea. Upon thorough investigation, dual-infection with hepatitis A and hepatitis E virus was found complicated by hypocalcemia (Ca = 4 mg/dl) and secondary hyperparathyroidism (PTH = 80 pg/dl). The diagnosis was confirmed through serology and laboratory findings, including elevated liver enzymes, low serum calcium, and high parathyroid hormone levels. He received aggressive supportive management, including intravenous hydration, syrup Hepa Merz (L-Ornithine, L-Aspartate) twice daily for seven days, folic acid supplementation for beta thalassemia, paracetamol for symptom relief, and intravenous calcium twice infusion over the span of seven days, leading to full recovery and discharge on oral calcium supplements. This case highlights the potential severity of HAV/HEV dual infection in thalassemia patients, emphasizing the need for prompt diagnosis, electrolyte monitoring, and aggressive supportive care. Additionally, it underscores the importance of preventive strategies, including HAV vaccination, improved hygiene, safe water and food practices and awareness and education. The report contributes to the limited literature on metabolic complications (hypocalcemia, secondary hyperparathyroidism) in such dual infections and reinforces the necessity of early intervention in high-risk populations. It also highlights the necessity of more research on the complications of dual infection with HAV and HEV in a beta-thalassemia major patient.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100331"},"PeriodicalIF":0.0,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144757445","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":"Copper-beaten skull: A case report","authors":"Imad Akasbi ,&nbsp;Amal Akammar ,&nbsp;Hajar Ouazzani Chahdi ,&nbsp;Ismail Chaouche ,&nbsp;Nizar El Bouardi ,&nbsp;Badr Alami ,&nbsp;MY Youssef Alaoui Lamrani ,&nbsp;Mustapha Maaroufi ,&nbsp;Meryem Boubbou","doi":"10.1016/j.hmedic.2025.100335","DOIUrl":"10.1016/j.hmedic.2025.100335","url":null,"abstract":"<div><div>The copper-beaten skull is a radiological finding often associated with elevated intracranial pressure (ICP) and craniosynostosis. It presents as convolutional markings resembling a hammered copper surface on imaging, particularly in children. We report the case of a 1-month-old male diagnosed with a copper-beaten skull, correlating clinical findings with imaging features, and provide a comprehensive literature review to highlight diagnostic and prognostic considerations. Early recognition and intervention are critical to preventing long-term complications such as cognitive impairment or visual loss.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100335"},"PeriodicalIF":0.0,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144749566","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":"Hurler syndrome: Oral and radiographic findings of a rare clinical case","authors":"W. Kabbassi,&nbsp;H. Hessissen,&nbsp;J. Hammouti","doi":"10.1016/j.hmedic.2025.100325","DOIUrl":"10.1016/j.hmedic.2025.100325","url":null,"abstract":"<div><div>Hurler syndrome (HS) is a rare disorder which belongs to the category of mucopolysaccharidosis (MPS) caused due to inherited deficiencies of lysosomal α-L-iduronidase activity. Individuals with HS share specific facial features with several oral manifestations. We present through this article a case of a 15-year-old girl that was referred to the pediatric dentistry department at the center of dental consultation and treatment of Rabat, diagnosed with Hurler- syndrome with numerous oral manifestations.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100325"},"PeriodicalIF":0.0,"publicationDate":"2025-07-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144749484","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":"The unseen majority: Characterizing seronegative MOGAD beyond traditional diagnostic criteria","authors":"BD Charan ,&nbsp;Vinod Chaudhary ,&nbsp;Preeti Joon","doi":"10.1016/j.hmedic.2025.100321","DOIUrl":"10.1016/j.hmedic.2025.100321","url":null,"abstract":"<div><div>Myelin oligodendrocyte glycoprotein antibody- associated disease (MOGAD) presents with optic neuritis, transverse myelitis, acute encephalitis or acute disseminated encephalomyelitis (ADEM). Less commonly it may manifest as aseptic meningitis, seizures and fever of unknown origin. We describe a paediatric case of seronegative MOGAD with an unusual clinical and neuroimaging profile. Despite negative serum MOG antibody testing, the patient exhibited features consistent with MOGAD and showed response to pulse methylprednisolone, expanding the known phenotypic spectrum of the disease. Recent studies have reported patients with CSF MOG-IgG but without detectable serum MOG-IgG challenging existing diagnostic criteria and need for further research on utility of CSF MOG antibody testing.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"13 ","pages":"Article 100321"},"PeriodicalIF":0.0,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144724771","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 rare case of fibro-thecoma mimicking ovarian malignancy: Diagnostic challenges and surgical management","authors":"Hafsa Taheri ,&nbsp;Oussama lamzouri ,&nbsp;Youssef Aloua ,&nbsp;Hanane Saadi ,&nbsp;Ahmed Mimouni","doi":"10.1016/j.hmedic.2025.100327","DOIUrl":"10.1016/j.hmedic.2025.100327","url":null,"abstract":"<div><div>A 78-year-old woman presented with chronic pelvic pain, abdominal distension, and a mobile mass suggestive of ovarian malignancy. Imaging studies, including MRI, revealed a malignant-appearing ovarian mass with abundant ascites, and serum CA125 levels were significantly elevated. During surgery, a total hysterectomy with bilateral anexectomy was performed due to the tumor’s malignant features. Postoperative histopathology identified the mass as a fibro-thecoma, a rare benign ovarian tumor often misdiagnosed as malignant. The surgical intervention was curative, and no adjuvant therapy was required. This case underscores the diagnostic challenges associated with fibro-thecoma, emphasizing the importance of preoperative evaluation, intraoperative assessment, and the role of radical surgery in achieving optimal outcomes. It also highlights the need for distinguishing Demons-Meigs syndrome from advanced ovarian malignancies.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"14 ","pages":"Article 100327"},"PeriodicalIF":0.0,"publicationDate":"2025-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144809699","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}