Medical Reports最新文献

{"title":"TB or not to be: A case of atypical gastrointestinal tuberculosis mimicking Crohn’s disease – A case report","authors":"Demver P. Gomez,&nbsp;Wilmyr F. Hababag","doi":"10.1016/j.hmedic.2025.100410","DOIUrl":"10.1016/j.hmedic.2025.100410","url":null,"abstract":"<div><h3>Background</h3><div>Gastrointestinal tuberculosis (GI TB) is a rare form of extrapulmonary TB that often mimics Crohn’s disease (CD) due to overlapping clinical, endoscopic, and histopathologic features. We present a case of GI TB that initially manifested as a perianal fistula, an atypical presentation for TB but commonly seen in CD. Familiarity with this presentation is essential to ensure timely diagnosis and appropriate management, particularly in TB endemic regions.</div></div><div><h3>Case summary</h3><div>A 38-year-old male from the Philippines presented with a 4-year history of chronic perianal fistula and recurrent rectal pain, initially diagnosed as CD based on findings from three colonoscopies and biopsies showing non-caseating granulomas. MTB GeneXpert and mycobacterial cultures were consistently negative. He was treated with antibiotics, corticosteroids, and biologic therapy, but showed no clinical improvement. One month later, he returned with persistent symptoms and sudden onset jaundice, accompanied by marked elevation of liver enzymes. Imaging revealed hepatosplenomegaly, hepatic nodules, and lymphadenopathy. A fourth colonoscopy with biopsy demonstrated caseating granulomas and Langhans giant cells, confirming tuberculous ileitis. Anti-tuberculosis therapy was initiated, resulting in significant clinical and biochemical improvement, including normalization of liver enzymes and closure of the perianal fistulas.</div></div><div><h3>Conclusion</h3><div>This case highlights the diagnostic challenge of distinguishing GI TB from Crohn’s disease in TB endemic regions. A high index of suspicion for TB must be maintained before initiating biologic therapy. Histopathologic confirmation and careful clinical correlation are essential for accurate diagnosis and appropriate treatment.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100410"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738016","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 dyspnea on exertion: Hypersensitivity pneumonitis caused by exposure to household birds","authors":"Elena Stekolchik ,&nbsp;David Saul ,&nbsp;Aaron Chidekel","doi":"10.1016/j.hmedic.2025.100403","DOIUrl":"10.1016/j.hmedic.2025.100403","url":null,"abstract":"","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100403"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145685078","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":"Brucellosis or tuberculosis? A case of misdiagnosed cervical spondylodiscitis leading to ATT-induced hepatitis","authors":"Divya Tanwar ,&nbsp;Naresh Kumar Midha ,&nbsp;Suvinay Saxena ,&nbsp;Monika Chaudhary ,&nbsp;Deepak Kumar ,&nbsp;Vibhor Tak","doi":"10.1016/j.hmedic.2025.100407","DOIUrl":"10.1016/j.hmedic.2025.100407","url":null,"abstract":"<div><h3>Background</h3><div>Brucellosis is a zoonotic infection that can affect multiple organ systems, often presenting with non-specific symptoms such as fatigue, back pain, and low-grade fever. The musculoskeletal system is frequently involved, leading to conditions like arthritis, sacroiliitis, spondylitis, spondylodiscitis, and osteomyelitis. Among these, spondylodiscitis most commonly affects the lumbar vertebrae, followed by the thoracic vertebrae, with cervical involvement being rare. Brucellosis diagnosis is challenging due to slow, low-yield cultures and limitations of standard agglutination test (SAT) and Enzyme-linked immunosorbent assay (ELISA), which may show false negatives and cross-reactivity. Overlapping clinical and radiological features with tuberculosis often cause misdiagnosis, leading to delayed diagnosis.</div></div><div><h3>Case description</h3><div>We present a rare case of cervical brucellar spondylodiscitis with an epidural abscess, initially misdiagnosed as tuberculosis. A middle-aged patient presented with progressive quadriparesis, prompting clinical suspicion of tubercular spondylitis. The patient started on antitubercular therapy (ATT) but subsequently developed drug-induced hepatitis. Further investigation revealed Brucella was the causative agent. Treatment was adjusted accordingly, resulting in notable clinical recovery and radiological abscess resolution.</div></div><div><h3>Conclusion</h3><div>Brucellar spondylodiscitis should be considered in the differential diagnosis of infective spondylitis, especially in endemic regions. Misdiagnosis as tubercular spondylitis can result in unnecessary ATT exposure and its associated complications. Timely diagnosis with appropriate serological and microbiological investigations is crucial for initiating appropriate therapy and preventing adverse outcomes.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100407"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145624947","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":"Late diagnosis of Loeys-Dietz syndrome in a cystic fibrosis patient: A case report","authors":"M. Lorenz ,&nbsp;M. Pavlova ,&nbsp;H.J. Mentzel ,&nbsp;A. Moeser","doi":"10.1016/j.hmedic.2025.100413","DOIUrl":"10.1016/j.hmedic.2025.100413","url":null,"abstract":"<div><h3>Background</h3><div>Cystic fibrosis (CF) already entails high treatment burden. Co-occurrence with connective-tissue aortopathy is exceptionally rare.</div></div><div><h3>Case</h3><div>We report a 23-year-old woman with CF due to <em>CFTR</em> c.1521_1523delCTT (p.Phe508del) apparent homozygosity. She underwent multiple orthopedic procedures from childhood. On transfer to our CF center, dysmorphic features (bifid uvula, hypertelorism) prompted genetic evaluation and a diagnosis of Loeys–Dietz syndrome (LDS) due to a heterozygous <em>TGFBR2</em> [Exon 8,c.1678G &gt; C, p.(Ala560pro), heterozygot] pathogenic variant. Imaging showed a 48 mm aortic root (≈ + 6 z). Valve-sparing aortic root repair (David procedure) was performed with good postoperative recovery under ongoing CFTR-modulator therapy (elexacaftor/tezacaftor/ivacaftor).</div></div><div><h3>Lessons learned</h3><div>In CF patients with disproportionate musculoskeletal or craniofacial findings, consider syndromic aortopathy and pursue genetics early. Timely LDS recognition enables elective aortic repair at smaller diameters and may prevent dissection.</div></div><div><h3>Conclusion</h3><div>This case underscores the value of cross-disciplinary screening for dual genetic diagnoses to optimize outcomes in complex phenotypes.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100413"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145924683","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":"Unusual presentation of thrombotic microangiopathy in a young adult","authors":"Aaron Bertolo ,&nbsp;Denis Ruzdija ,&nbsp;Muhammad Fawad Ashraf ,&nbsp;Haind Fadel ,&nbsp;Ahmad Iftikhar","doi":"10.1016/j.hmedic.2025.100411","DOIUrl":"10.1016/j.hmedic.2025.100411","url":null,"abstract":"<div><div>Thrombotic Microangiopathy (TMA) is a complex disorder encompassing various acquired and hereditary causes. In this case report, we delve into the atypical presentation of TMA in a 21-year-old patient, characterized by a distinctive lack of systemic findings (e.g., thrombocytopenia and microangiopathic hemolytic anemia) typically associated with the condition. An extensive investigation ruled out common etiologies, including ADAMTS13 deficiency (ruling out TTP), Shiga-toxin mediated HUS, and other secondary causes such as drug/immune-related factors, toxins, and systemic complement dysregulation (aHUS). A comprehensive genetic panel for complement mutations was negative. The patient's medical history did not align with prior COVID-19 infection, eliminating a potential causative link. The patient's lack of hypertension history raised a perplexing question: did renal disease precede hypertension or vice versa? Renal biopsy revealed characteristic features of TMA with mesangial deposits, hinting at a potential underlying genetic cause. However, common hereditary culprits, such as complement factor H mutations or Cobalamin C abnormalities, were ruled out through meticulous clinical, serological, and genetic evaluation.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100411"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145924681","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":"Breast cancer metastasis to gallbladder and urinary bladder: A rare case report","authors":"Farah Tarek Shaalan ,&nbsp;Israa Ahmed Qutob","doi":"10.1016/j.hmedic.2025.100398","DOIUrl":"10.1016/j.hmedic.2025.100398","url":null,"abstract":"<div><h3>Background</h3><div>Breast cancer is among the most frequently diagnosed malignancies worldwide, with metastases significantly impacting prognosis and treatment strategies. While the bones, lungs, liver, and brain are common metastatic sites, the involvement of the gallbladder and urinary bladder is exceedingly rare. These atypical metastatic sites pose considerable diagnostic challenges, often mimicking primary malignancies or benign conditions, thereby complicating timely diagnosis and appropriate management.</div></div><div><h3>Case Presentation</h3><div>We present the case of a 59-year-old female with a history of invasive lobular carcinoma of the right breast, diagnosed in 2018. Following a modified radical mastectomy, she underwent adjuvant chemotherapy, radiotherapy, and hormonal therapy, achieving an initial disease-free period. In June 2021, she presented with persistent vomiting, epigastric pain, and hematuria. Further evaluation revealed gastric outlet obstruction, prompting an exploratory laparotomy revealed a thickened gallbladder and pyloric narrowing. She underwent gastrojejunostomy (bypass surgery) with cholecystectomy, which confirmed metastatic carcinoma of lobular breast cancer origin in the gallbladder. Additional metastatic workup identified metastases to the bone and urinary bladder. Immunohistochemical analysis of metastatic lesions demonstrated estrogen receptor positivity, progesterone receptor positivity, and human epidermal growth factor receptor-2 negativity, consistent with the primary breast malignancy. Given her deteriorating condition, she commenced palliative chemotherapy with paclitaxel and zoledronic acid, subsequently transitioning to anastrozole and zoledronic acid.</div></div><div><h3>Conclusion</h3><div>This case underscores the importance of recognizing rare metastatic patterns in breast cancer. Comprehensive diagnostic evaluation, integrating imaging, histopathology, and molecular profiling, is crucial for accurate diagnosis and appropriate treatment. Further research is necessary to elucidate the mechanisms driving metastasis to uncommon sites and improve therapeutic approaches.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100398"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145685075","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":"Multicentric intracranial germinomas – Case report","authors":"Mohammad Qureshi ,&nbsp;Jamie Sloan ,&nbsp;Sunpreet Rakhra ,&nbsp;Gurpreet Gandhoke ,&nbsp;Stephanie A. Kolakowsky-Hayner","doi":"10.1016/j.hmedic.2025.100404","DOIUrl":"10.1016/j.hmedic.2025.100404","url":null,"abstract":"<div><div>Intracranial germ cell tumors, in locations other than the suprasellar and pineal area, are rare and typically present in children and adolescents. There is a dearth of literature regarding the presentation and treatment of germ cell tumors, particularly in adults. We present the case history, management, and 2-year follow up imaging of a 33-year-old male presenting with headaches and diabetes insipidus. On investigation, multiple tumors were found in the pineal, sellar region, posterior falcine area, and the frontal lobe on enhanced MRI. Stereotactic biopsy of the most accessible lesion was performed. Immunological analysis revealed tumor cells positive for OCT 3/4, CD117, CD10, D2–40 and dot-like CAM5.2. The patient was treated with BEP (Bleomycin + Etoposide + Cisplatin) chemotherapy and cranio-spinal proton beam radiation with significant reduction of tumor burden and no local recurrence or distant metastasis at 24 months. Timely diagnosis and excellent response to chemo-radiation helped avoid invasive and morbid surgical interventions. This case enhances the understanding of timely diagnosis and initiation of treatment for central nervous system germ cell tumors.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100404"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738015","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":"Stroke as the initial presentation of Takayasu’s arteritis in a 10-year-old girl: A case report","authors":"Filimon Getaneh Assefa ,&nbsp;Suleiman Ayalew Belay ,&nbsp;Belachew Wolellaw Bezie ,&nbsp;Kedir Workye Muhamed ,&nbsp;Bewketu Tadese Baines ,&nbsp;Ayalsew Zerihun Damessa ,&nbsp;Biniyam Mequanent Sileshi ,&nbsp;Alazar Amlaku Teshager","doi":"10.1016/j.hmedic.2025.100409","DOIUrl":"10.1016/j.hmedic.2025.100409","url":null,"abstract":"<div><div>Takayasu arteritis (TA) is a chronic, idiopathic, granulomatous large-vessel vasculitis that primarily affects the aorta and its major branches, representing a significant cause of vascular morbidity in children and young adults. Stroke is an uncommon but recognized complication of TA and may occasionally be the presenting feature. Crossed aphasia in a dextral (right-handed) patient, aphasia resulting from a right-hemisphere lesion, is particularly rare. We report the case of a 10-year-old right-handed girl who presented with sudden-onset expressive language disturbance and left-sided weakness. Physical examination revealed a discrepancy in upper-limb pulse and blood pressure, bilateral carotid bruits, and left-sided hemiparesis. Brain CT demonstrated a right middle cerebral artery (MCA) territory infarct, while vascular imaging showed marked bilateral common carotid artery wall thickening with severe luminal narrowing and an intraluminal thrombus on the right. Inflammatory markers were elevated. The patient met the ACR/EULAR classification criteria for Takayasu arteritis and was categorized as Numano type I. She received antithrombotic therapy and high-dose oral corticosteroids. At two-month follow-up, there was partial recovery of language but persistent left-sided weakness.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100409"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145738017","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":"Fatal persistent pulmonary hypertension as part of 3q11.1-q21.3 deletion syndrome?","authors":"Shirley Lo-A-Njoe ,&nbsp;Liselot van der Laan ,&nbsp;Alex V. Postma ,&nbsp;Anouk van Doorn ,&nbsp;Ginette Ecury ,&nbsp;Mieke M. van Haelst","doi":"10.1016/j.hmedic.2025.100408","DOIUrl":"10.1016/j.hmedic.2025.100408","url":null,"abstract":"<div><div>We present a premature female neonate diagnosed with a rare multiple congenital anomalies (MCA) syndrome resulting from a 3q11.1-q21.3 deletion. This MCA disorder is characterized by developmental delay, brain anomalies (mainly agenesis of corpus callosum), characteristic facial features (short philtrum, protruding lips), and urogenital anomalies. In addition, the girl also exhibited unresponsive fatal persistent pulmonary hypertension of the neonate (PPHN). Diagnosis of chromosome 3q deletion was confirmed through comprehensive molecular analyses and PPHN through echocardiography. Management strategies were tailored to the specific phenotype presentation, with focus on providing support and comfort for the patient and the available treatment options for PPHN in our local setting. Despite intensive medical interventions, the patient died because of refractory PPHN in the neonatal period. To our knowledge, this is the first case with fatal PPHN in a patient with chromosome a 3q11.1-q21.3 deletion and the largest deletion thus far reported.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100408"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145685077","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 common drug, an uncommon reaction: The combination of amoxicillin-clavulanic acid induced acute allergic reaction with urticaria and angioedema—A case study","authors":"Aruna Kale ,&nbsp;Avinash Khairnar ,&nbsp;Anil Pardeshi ,&nbsp;Vaishali Agrawal ,&nbsp;Shweta Bora","doi":"10.1016/j.hmedic.2025.100401","DOIUrl":"10.1016/j.hmedic.2025.100401","url":null,"abstract":"<div><h3>Background</h3><div>Amoxicillin-clavulanic acid is a commonly prescribed β-lactam antibiotic combination known for its broad-spectrum activity and general tolerability. However, it can rarely cause severe immediate hypersensitivity reactions, including urticaria, angioedema, and life-threatening anaphylaxis. Early identification and management are crucial, especially in perioperative settings.</div></div><div><h3>Case presentation</h3><div>The patient who was a 38-year-old female gynaecologist, developed an acute allergic reaction with urticaria, angioedema, and anaphylaxis shortly after intravenous administration of amoxicillin-clavulanic acid during an elective caesarean section. Despite previous uneventful exposures and no known allergy history, she experienced rapid cardiovascular collapse requiring advanced resuscitation. The patient recovered fully after timely intervention with corticosteroids, vasopressors, and supportive care.</div></div><div><h3>Pathogenesis</h3><div>The hypersensitivity was likely IgE-mediated, involving mast cell activation triggered by both amoxicillin and clavulanic acid sensitization. Proposed mechanisms include drug-induced hapten formation and disruption of skin cell adhesion proteins, leading to immune activation and the characteristic skin manifestations.</div></div><div><h3>Diagnosis and management</h3><div>Diagnosis relied on clinical correlation of symptoms with drug exposure. Immediate cessation of the drug and initiation of corticosteroids, antihistamines, vasopressors, and cardiopulmonary resuscitation were critical to patient survival. Close monitoring post-event ensured recovery and prevented complications.</div></div><div><h3>Contribution of this study</h3><div>This case underscores the unpredictable nature of severe β-lactam allergies, highlighting the necessity for vigilant allergy assessment and pharmacovigilance. It supports the implementation of penicillin skin testing and awareness of clavulanate-specific hypersensitivity. Additionally, pharmacogenomic insights may enhance personalized antibiotic therapy and reduce adverse reactions.</div></div><div><h3>Conclusion</h3><div>Anaphylaxis to amoxicillin-clavulanate may occur despite prior tolerance, indicating delayed sensitization. Early drug withdrawal and epinephrine use are lifesaving. Pregnancy at advanced maternal age may heighten immune reactivity. Post-resuscitation pulmonary complications warrant monitoring. Confirmatory allergic testing for β-lactam and clavulanate determinants is crucial for guiding future antibiotic safety and prophylaxis.</div></div>","PeriodicalId":100908,"journal":{"name":"Medical Reports","volume":"15 ","pages":"Article 100401"},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145685076","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}