BACKGROUND Infectious arthritis is an infection of the joint and joint cavities, with Staphylococcus aureus being the most common causative agent. Most cases of infectious arthritis are caused by a single pathogen, with polymicrobial infections being comparatively rare. This article describes a patient with a knee infection caused by Treponema pallidum, Brucella spp., and possibly co-infected with Mycobacterium tuberculosis and Escherichia coli (E. coli). The aim of this paper is to discuss the characteristics of atypical joint diseases caused by multi-pathogenic infections and to provide a reference for the diagnosis and treatment of related diseases. CASE REPORT A 58-year-old male veterinarian from western China presented with pain, swelling, and restricted movement in his left knee after arthroscopic surgery. The imaging results showed extensive and severe damage to the knee joint structure, but the laboratory results showed that the neutrophil level was normal and he did not experience severe pain. His blood and cerebrospinal fluid were positive for Treponema pallidum antibodies and his blood was positive for IgG antibodies against Brucella abortus. Because the knee joint was severely damaged, knee arthrodesis surgery was performed, with a satisfactory outcome. CONCLUSIONS This case was a multi-pathogenic joint infection with a complex course. By comparing the patient's test results and clinical condition with the common features and symptoms of Charcot arthropathy, we concluded that syphilis had invaded the central nervous system, and that Charcot arthropathy, likely secondary to neurosyphilis, masked the severe pain typically associated with extensive joint destruction. This case highlights the diagnostic challenges associated with such conditions.
{"title":"Multi-Pathogen Knee Infection, Including Treponema pallidum and Brucella: A Case Report.","authors":"Youhan Yang, Haitao Chen, Yinxian Wen, Qinglong Chai, Yi Hua, Xu Yang, Liaobin Chen","doi":"10.12659/AJCR.950156","DOIUrl":"10.12659/AJCR.950156","url":null,"abstract":"<p><p>BACKGROUND Infectious arthritis is an infection of the joint and joint cavities, with Staphylococcus aureus being the most common causative agent. Most cases of infectious arthritis are caused by a single pathogen, with polymicrobial infections being comparatively rare. This article describes a patient with a knee infection caused by Treponema pallidum, Brucella spp., and possibly co-infected with Mycobacterium tuberculosis and Escherichia coli (E. coli). The aim of this paper is to discuss the characteristics of atypical joint diseases caused by multi-pathogenic infections and to provide a reference for the diagnosis and treatment of related diseases. CASE REPORT A 58-year-old male veterinarian from western China presented with pain, swelling, and restricted movement in his left knee after arthroscopic surgery. The imaging results showed extensive and severe damage to the knee joint structure, but the laboratory results showed that the neutrophil level was normal and he did not experience severe pain. His blood and cerebrospinal fluid were positive for Treponema pallidum antibodies and his blood was positive for IgG antibodies against Brucella abortus. Because the knee joint was severely damaged, knee arthrodesis surgery was performed, with a satisfactory outcome. CONCLUSIONS This case was a multi-pathogenic joint infection with a complex course. By comparing the patient's test results and clinical condition with the common features and symptoms of Charcot arthropathy, we concluded that syphilis had invaded the central nervous system, and that Charcot arthropathy, likely secondary to neurosyphilis, masked the severe pain typically associated with extensive joint destruction. This case highlights the diagnostic challenges associated with such conditions.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"27 ","pages":"e950156"},"PeriodicalIF":0.7,"publicationDate":"2026-01-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12831463/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145999133","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}
BACKGROUND Common oral pathogens such as Treponema denticola, Porphyromonas gingivalis, and Tannerella forsythia, which form biofilms in the periodontal pockets, are classified together as Red Complex bacteria in Socransky's subgingival cluster model and are key pathogenic bacteria in periodontitis. Oral pathogens play a critical role in pulmonary infections, particularly in the pathogenesis of lung abscesses. Lung abscesses caused by Red Complex bacteria have rarely been described; to our knowledge, few cases have been reported to date. CASE REPORT We present the first documented case of chronic lung abscess caused by Red Complex bacteria, with recurrent hemoptysis as the main symptom. The patient had chronic periodontitis and uncontrolled diabetes, and exhibited an indolent clinical course with consistently negative bacterial cultures. Chest computed tomography (CT) demonstrated a thick-walled cavity with minimal liquefactive changes in the right upper lobe. Red Complex bacteria in the bronchoalveolar lavage fluid and the lung tissue were identified by metagenomics next-generation sequencing (mNGS). The patient underwent intravenous penicillin therapy. The hemoptysis resolved completely coupled with improvement in clinical status and inflammatory markers. The chest CT demonstrated near-complete resolution of the lung abscess during follow-up. CONCLUSIONS Red Complex bacteria are rare pathogens in patients with periodontitis who develop culture-negative chronic lung abscesses accompanied by recurrent hemoptysis. This case report highlights this rare etiology and reveals a critical diagnostic limitation, as routine cultures frequently fail to detect these fastidious organisms. The incorporation of mNGS into the diagnostic algorithm for such cases can facilitate a definitive diagnosis and guide precise antimicrobial therapy.
{"title":"Red Complex Bacteria as a Hidden Cause of Chronic Lung Abscess: A Case Report.","authors":"Hong Chang, Xiaohua Qin","doi":"10.12659/AJCR.949102","DOIUrl":"10.12659/AJCR.949102","url":null,"abstract":"<p><p>BACKGROUND Common oral pathogens such as Treponema denticola, Porphyromonas gingivalis, and Tannerella forsythia, which form biofilms in the periodontal pockets, are classified together as Red Complex bacteria in Socransky's subgingival cluster model and are key pathogenic bacteria in periodontitis. Oral pathogens play a critical role in pulmonary infections, particularly in the pathogenesis of lung abscesses. Lung abscesses caused by Red Complex bacteria have rarely been described; to our knowledge, few cases have been reported to date. CASE REPORT We present the first documented case of chronic lung abscess caused by Red Complex bacteria, with recurrent hemoptysis as the main symptom. The patient had chronic periodontitis and uncontrolled diabetes, and exhibited an indolent clinical course with consistently negative bacterial cultures. Chest computed tomography (CT) demonstrated a thick-walled cavity with minimal liquefactive changes in the right upper lobe. Red Complex bacteria in the bronchoalveolar lavage fluid and the lung tissue were identified by metagenomics next-generation sequencing (mNGS). The patient underwent intravenous penicillin therapy. The hemoptysis resolved completely coupled with improvement in clinical status and inflammatory markers. The chest CT demonstrated near-complete resolution of the lung abscess during follow-up. CONCLUSIONS Red Complex bacteria are rare pathogens in patients with periodontitis who develop culture-negative chronic lung abscesses accompanied by recurrent hemoptysis. This case report highlights this rare etiology and reveals a critical diagnostic limitation, as routine cultures frequently fail to detect these fastidious organisms. The incorporation of mNGS into the diagnostic algorithm for such cases can facilitate a definitive diagnosis and guide precise antimicrobial therapy.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"27 ","pages":"e949102"},"PeriodicalIF":0.7,"publicationDate":"2026-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12831465/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145991249","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}
Ashley Battenberg, Malcolm R Bell, Mandeep Singh, Allan S Jaffe, Marysia S Tweet
BACKGROUND Management of myocardial infarction (MI) in a patient with gastrointestinal (GI) bleeding presents a clinical challenge with competing ischemic and bleeding risks. Distinction of type 1 MI from type 2 MI is particularly important when planning antiplatelet therapy. CASE REPORT A 90-year-old man presented with MI, severe acute-on-chronic anemia, and active GI bleeding. The etiology of his MI was unclear in the setting of severe coronary artery disease, although type 2 MI was favored when his chest pain resolved with blood transfusions. After treatment of his bleeding angiodysplasias, dual antiplatelet therapy (DAPT) was attempted but discontinued due to recurrent bleeding. Ischemic heart disease was managed conservatively with antiplatelet monotherapy, which was subsequently withheld after shared decision making with the patient. At the 3-month follow-up, his symptoms were controlled with optimized antianginal therapy, although he required rehospitalization for recurrent GI bleeding that was treated endoscopically. CONCLUSIONS This case highlights the nuances of treating acute ischemic heart disease and the complexity of decision making regarding DAPT in patients with high GI bleeding risk. The risks and benefits of DAPT should be continually assessed in patients who exhibit bleeding or have a risk of bleeding onset. If antiplatelet monotherapy is considered due to GI bleeding, P2Y12 inhibitors such as clopidogrel are preferable. The outcome of the present case supports individualized treatment and may have broader implications for older patients with coexisting GI bleeding and coronary artery disease.
{"title":"Balancing Bleeding and Ischemic Risk: Dual Antiplatelet Therapy in a 90-Year-Old Man With Myocardial Infarction and Gastrointestinal Bleeding.","authors":"Ashley Battenberg, Malcolm R Bell, Mandeep Singh, Allan S Jaffe, Marysia S Tweet","doi":"10.12659/AJCR.949920","DOIUrl":"10.12659/AJCR.949920","url":null,"abstract":"<p><p>BACKGROUND Management of myocardial infarction (MI) in a patient with gastrointestinal (GI) bleeding presents a clinical challenge with competing ischemic and bleeding risks. Distinction of type 1 MI from type 2 MI is particularly important when planning antiplatelet therapy. CASE REPORT A 90-year-old man presented with MI, severe acute-on-chronic anemia, and active GI bleeding. The etiology of his MI was unclear in the setting of severe coronary artery disease, although type 2 MI was favored when his chest pain resolved with blood transfusions. After treatment of his bleeding angiodysplasias, dual antiplatelet therapy (DAPT) was attempted but discontinued due to recurrent bleeding. Ischemic heart disease was managed conservatively with antiplatelet monotherapy, which was subsequently withheld after shared decision making with the patient. At the 3-month follow-up, his symptoms were controlled with optimized antianginal therapy, although he required rehospitalization for recurrent GI bleeding that was treated endoscopically. CONCLUSIONS This case highlights the nuances of treating acute ischemic heart disease and the complexity of decision making regarding DAPT in patients with high GI bleeding risk. The risks and benefits of DAPT should be continually assessed in patients who exhibit bleeding or have a risk of bleeding onset. If antiplatelet monotherapy is considered due to GI bleeding, P2Y12 inhibitors such as clopidogrel are preferable. The outcome of the present case supports individualized treatment and may have broader implications for older patients with coexisting GI bleeding and coronary artery disease.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"27 ","pages":"e949920"},"PeriodicalIF":0.7,"publicationDate":"2026-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12831464/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145994622","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}
BACKGROUND Crohn's disease (CD) is an autoimmune disorder affecting the gastrointestinal tract, particularly the terminal ileum and colon. Moderate-to-severe CD is often managed with advanced therapeutic approaches, including biologics and small molecules. Several studies and reports have shown that new immunosuppressive biologics are effective as second-line therapies in patients with refractory CD, including upadacitinib (a JAK1 inhibitor) and risankizumab (interleukin-23 p19 inhibitor). CASE REPORT We report a case of a 17-year-old male adolescent with a 7-year history of CD. The patient experienced response failure to infliximab and adalimumab, despite both agents being maintained within the therapeutic range. He was steroid-dependent. His infectious workup was repeatedly negative. He was started on ustekinumab, which was stopped after 9 months due to active endoscopic disease. This was followed by an induction course of upadacitinib, which resulted in only a partial response, with a fecal calprotectin level of 500 mcg/g. Finally, he was treated effectively with advanced combined targeted therapy, with oral upadacitinib at a dose of 45 mg daily and risankizumab induction dose of 600 mg intravenously at 0, 4, and 8 weeks, followed by 360 mg subcutaneously every 8 weeks. The patient achieved complete clinical and biochemical remission. At 9 months, his repeat colonoscopy showed quiescent disease, with a Simple Endoscopic Score for Crohn's disease score <4. CONCLUSIONS This report supports recent regulatory approvals, reports, and study findings that have shown the effectiveness of upadacitinib and risankizumab as second-line therapy in patients with refractory inflammatory bowel disease.
{"title":"A 17-Year-Old Male Adolescent With Refractory Crohn's Disease Managed With Upadacitinib and Risankizumab Combination Therapy: A Case Report and Review of Current Evidence.","authors":"Mohammad Alhashemi, Mohammad Shehab","doi":"10.12659/AJCR.950174","DOIUrl":"10.12659/AJCR.950174","url":null,"abstract":"<p><p>BACKGROUND Crohn's disease (CD) is an autoimmune disorder affecting the gastrointestinal tract, particularly the terminal ileum and colon. Moderate-to-severe CD is often managed with advanced therapeutic approaches, including biologics and small molecules. Several studies and reports have shown that new immunosuppressive biologics are effective as second-line therapies in patients with refractory CD, including upadacitinib (a JAK1 inhibitor) and risankizumab (interleukin-23 p19 inhibitor). CASE REPORT We report a case of a 17-year-old male adolescent with a 7-year history of CD. The patient experienced response failure to infliximab and adalimumab, despite both agents being maintained within the therapeutic range. He was steroid-dependent. His infectious workup was repeatedly negative. He was started on ustekinumab, which was stopped after 9 months due to active endoscopic disease. This was followed by an induction course of upadacitinib, which resulted in only a partial response, with a fecal calprotectin level of 500 mcg/g. Finally, he was treated effectively with advanced combined targeted therapy, with oral upadacitinib at a dose of 45 mg daily and risankizumab induction dose of 600 mg intravenously at 0, 4, and 8 weeks, followed by 360 mg subcutaneously every 8 weeks. The patient achieved complete clinical and biochemical remission. At 9 months, his repeat colonoscopy showed quiescent disease, with a Simple Endoscopic Score for Crohn's disease score <4. CONCLUSIONS This report supports recent regulatory approvals, reports, and study findings that have shown the effectiveness of upadacitinib and risankizumab as second-line therapy in patients with refractory inflammatory bowel disease.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"27 ","pages":"e950174"},"PeriodicalIF":0.7,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12829254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145991193","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}
Benjamin W Mancini, Sudhanshu Bhatnagar, Patricia Louis, Julio Andre Hernandez, Brandon R Peterson
BACKGROUND Takotsubo cardiomyopathy (TCM) is a transient form of myocardial dysfunction often precipitated by emotional or physical stress with characteristic apical ventricular ballooning pattern on echocardiogram with no acute coronary event. Recurrent TCM is rare, only occurring in approximately 1-6% of cases, with re-recurrences being even more unusual. We describe a rare case of a second recurrence of TCM in a patient with chronic anxiety but no clear inciting physical or emotional stressors. CASE REPORT A 71-year-old woman with recurrent TCM episodes (2013, 2016) and chronic anxiety presented with chest pain, nausea, diaphoresis, and elevated troponins with a normal EKG and coronary angiography that revealed no signs of significant coronary disease. Transthoracic echocardiogram was notable for mildly reduced left ventricular ejection fraction associated with circumferential hypokinesis and mild left ventricular outflow tract (LVOT) gradient consistent with her second recurrence of TCM. The mid-ventricular ballooning pattern differed from her prior patterns of TCM. CONCLUSIONS This case highlights the importance of clinical suspicion of re-recurrent TCM despite its rarity, especially as it may occur in the absence of clear triggers. Recurrence risk is likely higher in patients with a history of psychiatric conditions, suggesting that optimizing psychiatric care, including psychotherapy and pharmacological management, could be key to preventing further episodes. Although beta-blockers are commonly used for recurrence prevention, their effectiveness may be limited in some patients, particularly those with hypotension or orthostasis. Further research is needed to better understand the mechanisms underlying TCM recurrence and to refine preventive strategies.
{"title":"Rare Case of Second Recurrence of Takotsubo Cardiomyopathy With Variable Ballooning Pattern.","authors":"Benjamin W Mancini, Sudhanshu Bhatnagar, Patricia Louis, Julio Andre Hernandez, Brandon R Peterson","doi":"10.12659/AJCR.948201","DOIUrl":"10.12659/AJCR.948201","url":null,"abstract":"<p><p>BACKGROUND Takotsubo cardiomyopathy (TCM) is a transient form of myocardial dysfunction often precipitated by emotional or physical stress with characteristic apical ventricular ballooning pattern on echocardiogram with no acute coronary event. Recurrent TCM is rare, only occurring in approximately 1-6% of cases, with re-recurrences being even more unusual. We describe a rare case of a second recurrence of TCM in a patient with chronic anxiety but no clear inciting physical or emotional stressors. CASE REPORT A 71-year-old woman with recurrent TCM episodes (2013, 2016) and chronic anxiety presented with chest pain, nausea, diaphoresis, and elevated troponins with a normal EKG and coronary angiography that revealed no signs of significant coronary disease. Transthoracic echocardiogram was notable for mildly reduced left ventricular ejection fraction associated with circumferential hypokinesis and mild left ventricular outflow tract (LVOT) gradient consistent with her second recurrence of TCM. The mid-ventricular ballooning pattern differed from her prior patterns of TCM. CONCLUSIONS This case highlights the importance of clinical suspicion of re-recurrent TCM despite its rarity, especially as it may occur in the absence of clear triggers. Recurrence risk is likely higher in patients with a history of psychiatric conditions, suggesting that optimizing psychiatric care, including psychotherapy and pharmacological management, could be key to preventing further episodes. Although beta-blockers are commonly used for recurrence prevention, their effectiveness may be limited in some patients, particularly those with hypotension or orthostasis. Further research is needed to better understand the mechanisms underlying TCM recurrence and to refine preventive strategies.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"27 ","pages":"e948201"},"PeriodicalIF":0.7,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12829251/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145991175","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}
BACKGROUND Ceftriaxone is a cephalosporin antibiotic administered by injection, and although it is widely used, there have been rare reports of anaphylaxis and cardiac arrest, with some fatal outcomes. This report describes the case of a 61-year-old woman with anaphylaxis and cardiac arrest on initial intravenous administration of ceftriaxone who recovered following cardiopulmonary resuscitation. CASE REPORT A 61-year-old woman with a 3-day history of cough and dizziness presented to the emergency room. She had been taking cefuroxime and aminophylline, with no known antibiotic allergies. On examination, mild leukocytosis was observed, and chest computed tomography (CT) revealed right lower-lobe consolidation, consistent with pneumonia. Intravenous ceftriaxone was administered. Within 30 seconds, she developed severe respiratory distress and cyanosis. Ceftriaxone was immediately discontinued, and she rapidly progressed to asystole, and advanced cardiovascular life support (ACLS) was initiated. Spontaneous circulation was restored after 2 minutes. She stabilized with corticosteroids and supportive care and her respiratory status and oxygenation improved. One hour after onset, a transient truncal urticaria occurred and resolved spontaneously. She was then transferred to the intensive care unit (ICU) and discharged in good health after 3 days. No complications were noted at 1-month follow-up. CONCLUSIONS An initial intravenous dose of ceftriaxone may trigger rare but serious anaphylactic reactions, even in patients without a history of drug allergy, underscoring the need for vigilant monitoring during administration.
{"title":"Anaphylaxis and Cardiac Arrest Induced by Initial Intravenous Ceftriaxone: A Case Report.","authors":"Zhichu Dai, Jiankun Liao, Liwei He","doi":"10.12659/AJCR.949917","DOIUrl":"10.12659/AJCR.949917","url":null,"abstract":"<p><p>BACKGROUND Ceftriaxone is a cephalosporin antibiotic administered by injection, and although it is widely used, there have been rare reports of anaphylaxis and cardiac arrest, with some fatal outcomes. This report describes the case of a 61-year-old woman with anaphylaxis and cardiac arrest on initial intravenous administration of ceftriaxone who recovered following cardiopulmonary resuscitation. CASE REPORT A 61-year-old woman with a 3-day history of cough and dizziness presented to the emergency room. She had been taking cefuroxime and aminophylline, with no known antibiotic allergies. On examination, mild leukocytosis was observed, and chest computed tomography (CT) revealed right lower-lobe consolidation, consistent with pneumonia. Intravenous ceftriaxone was administered. Within 30 seconds, she developed severe respiratory distress and cyanosis. Ceftriaxone was immediately discontinued, and she rapidly progressed to asystole, and advanced cardiovascular life support (ACLS) was initiated. Spontaneous circulation was restored after 2 minutes. She stabilized with corticosteroids and supportive care and her respiratory status and oxygenation improved. One hour after onset, a transient truncal urticaria occurred and resolved spontaneously. She was then transferred to the intensive care unit (ICU) and discharged in good health after 3 days. No complications were noted at 1-month follow-up. CONCLUSIONS An initial intravenous dose of ceftriaxone may trigger rare but serious anaphylactic reactions, even in patients without a history of drug allergy, underscoring the need for vigilant monitoring during administration.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"27 ","pages":"e949917"},"PeriodicalIF":0.7,"publicationDate":"2026-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12822611/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145985697","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}
BACKGROUND Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in the glucosylceramidase beta 1 (GBA1) gene, with a wide range of clinical manifestations. Type 2 GD, the acute neuronopathic form, is the most severe and has historically been considered a distinct clinical entity. Emerging evidence suggests a broader phenotypic spectrum, including intermediate forms that do not fully align with the diagnostic criteria for either type 2 or type 3 GD. Here, we describe an Albanian patient with an unusual intermediate type 2-3 phenotype, homozygous for the rare GBA1 complex allele p.[His294Gln;Asp448His] that is frequently found in Balkan populations. Although this genotype is typically associated with early-onset type 2 GD and death within the first 2 years of life, our patient developed neurologic symptoms at 15 months and survived until age 5. CASE REPORT A male Albanian infant presented at 4 months of age with hepatosplenomegaly and thrombocytopenia. Genetic testing revealed homozygosity for the rare GBA1 complex allele p.[His294Gln;Asp448His]. Enzyme replacement therapy, initiated at 7 months, led to temporary improvement of visceral and hematological symptoms. Neurologic manifestations - including oculomotor apraxia, dystonia, and seizures - emerged at 15 months. Despite continued enzyme replacement therapy and supportive care, the patient's neurologic condition progressively worsened, and he died at age 5 due to disease progression and pulmonary complications. CONCLUSIONS This case reinforces the concept that type 2 GD exists on a phenotypic spectrum, rather than as a uniform clinical entity, and underscores the broad genotype-phenotype variability in GD.
{"title":"Phenotypic Spectrum of Type 2-3 Gaucher Disease: A Case Study in the Balkan Genotype.","authors":"Paskal Cullufi, Virtut Velmishi, Ermira Dervishi, Sonila Tomori, Gladiola Hoxha, Eda Jazexhiu-Postoli, Entela Basha, Aferdita Kumaraku Tako, Mirela Tabaku","doi":"10.12659/AJCR.948999","DOIUrl":"10.12659/AJCR.948999","url":null,"abstract":"<p><p>BACKGROUND Gaucher disease (GD) is a lysosomal storage disorder caused by mutations in the glucosylceramidase beta 1 (GBA1) gene, with a wide range of clinical manifestations. Type 2 GD, the acute neuronopathic form, is the most severe and has historically been considered a distinct clinical entity. Emerging evidence suggests a broader phenotypic spectrum, including intermediate forms that do not fully align with the diagnostic criteria for either type 2 or type 3 GD. Here, we describe an Albanian patient with an unusual intermediate type 2-3 phenotype, homozygous for the rare GBA1 complex allele p.[His294Gln;Asp448His] that is frequently found in Balkan populations. Although this genotype is typically associated with early-onset type 2 GD and death within the first 2 years of life, our patient developed neurologic symptoms at 15 months and survived until age 5. CASE REPORT A male Albanian infant presented at 4 months of age with hepatosplenomegaly and thrombocytopenia. Genetic testing revealed homozygosity for the rare GBA1 complex allele p.[His294Gln;Asp448His]. Enzyme replacement therapy, initiated at 7 months, led to temporary improvement of visceral and hematological symptoms. Neurologic manifestations - including oculomotor apraxia, dystonia, and seizures - emerged at 15 months. Despite continued enzyme replacement therapy and supportive care, the patient's neurologic condition progressively worsened, and he died at age 5 due to disease progression and pulmonary complications. CONCLUSIONS This case reinforces the concept that type 2 GD exists on a phenotypic spectrum, rather than as a uniform clinical entity, and underscores the broad genotype-phenotype variability in GD.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"27 ","pages":"e948999"},"PeriodicalIF":0.7,"publicationDate":"2026-01-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12822607/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145971213","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}
Michelle Villegas-Downs, Mehrdad Mohammadi, Aiguo Han, William D O'Brien, Judith M Schlaeger, Barbara L McFarlin
BACKGROUND The uterine cervix is crucial for maintaining pregnancy to term, and complete cervical repair is essential to prevent future obstetric complications. Despite the importance of the cervical remodeling process, its characterization from pregnancy to the postpartum period in humans has been challenging. Quantitative ultrasound (QUS) noninvasively estimates tissue properties, potentially providing insights into the cervical remodeling process beyond standard clinical assessment. By characterizing biological changes throughout pregnancy and the postpartum period, QUS can potentially improve our understanding of normal cervical remodeling and early deviations that can be associated with adverse outcomes. CASE REPORT This retrospective case series was aimed to characterize the cervical remodeling process from pregnancy to 1 year postpartum. Eight women underwent transvaginal ultrasound scans at 2 time points in mid-pregnancy (approximately 20 and 24 weeks of gestation) and 5 time points postpartum (approximately 6 weeks, and 3, 6, 9, and 12 months). Five QUS biomarkers were analyzed: attenuation coefficient, backscatter coefficient, shear wave speed, slope, and intercept. Similar trends were observed in attenuation coefficient, backscatter coefficient, and slope over time. During pregnancy, lower shear wave speed values were detected (mean [SD], 1.6 [0.3] m/s) that increased after delivery (3.2 [0.2] m/s). Additionally, intercept values were higher during both pregnancy time points (-33.3 [0.52] dB) and decreased postpartum (-36.1 [0.45] dB). CONCLUSIONS This case series provides data on the cervical tissue changes observed in 8 participants measured using QUS. These preliminary findings can inform future studies aimed at understanding cervical remodeling and its clinical implications based on cervical tissue changes.
{"title":"Characterization of Cervical Remodeling During Pregnancy and the Postpartum Period: A Case Series Analysis.","authors":"Michelle Villegas-Downs, Mehrdad Mohammadi, Aiguo Han, William D O'Brien, Judith M Schlaeger, Barbara L McFarlin","doi":"10.12659/AJCR.949296","DOIUrl":"10.12659/AJCR.949296","url":null,"abstract":"<p><p>BACKGROUND The uterine cervix is crucial for maintaining pregnancy to term, and complete cervical repair is essential to prevent future obstetric complications. Despite the importance of the cervical remodeling process, its characterization from pregnancy to the postpartum period in humans has been challenging. Quantitative ultrasound (QUS) noninvasively estimates tissue properties, potentially providing insights into the cervical remodeling process beyond standard clinical assessment. By characterizing biological changes throughout pregnancy and the postpartum period, QUS can potentially improve our understanding of normal cervical remodeling and early deviations that can be associated with adverse outcomes. CASE REPORT This retrospective case series was aimed to characterize the cervical remodeling process from pregnancy to 1 year postpartum. Eight women underwent transvaginal ultrasound scans at 2 time points in mid-pregnancy (approximately 20 and 24 weeks of gestation) and 5 time points postpartum (approximately 6 weeks, and 3, 6, 9, and 12 months). Five QUS biomarkers were analyzed: attenuation coefficient, backscatter coefficient, shear wave speed, slope, and intercept. Similar trends were observed in attenuation coefficient, backscatter coefficient, and slope over time. During pregnancy, lower shear wave speed values were detected (mean [SD], 1.6 [0.3] m/s) that increased after delivery (3.2 [0.2] m/s). Additionally, intercept values were higher during both pregnancy time points (-33.3 [0.52] dB) and decreased postpartum (-36.1 [0.45] dB). CONCLUSIONS This case series provides data on the cervical tissue changes observed in 8 participants measured using QUS. These preliminary findings can inform future studies aimed at understanding cervical remodeling and its clinical implications based on cervical tissue changes.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"27 ","pages":"e949296"},"PeriodicalIF":0.7,"publicationDate":"2026-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12822610/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145985707","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}
BACKGROUND Anterior cervical discectomy and fusion (ACDF) is a commonly performed and effective procedure for treating cervical spondylosis. Although cerebrospinal fluid (CSF) leakage is an uncommon complication, occurring in 0.2% to 1.7% of cases, it typically presents as an extraspinal leak. This report describes the case of a 51-year-old woman with postoperative headache due to an early epidural (intraspinal) CSF leak following ACDF - a complication that has not been previously reported. CASE REPORT A 51-year-old woman presented with chronic neck pain, cervicogenic headaches, and upper-limb paresthesia due to multilevel cervical spondylosis. MRI revealed discopathy at C4-C7. She underwent elective ACDF at C4-C7. During discectomy at C5/C6, a CSF leak was observed before exposure of the posterior longitudinal ligament (PLL) and was repaired intraoperatively using TachoSil, a muscle graft, and fibrin glue. On the first postoperative day, the patient developed headaches, nausea, and dizziness consistent with intracranial hypotension. MRI on postoperative day 4 revealed a ventral epidural CSF collection. Lumbar drainage was placed, resulting in resolution of symptoms and the CSF collection. Follow-up MRI at 6 weeks confirmed complete recovery. CONCLUSIONS This report presents a rare case of early epidural CSF leak following ACDF. Prompt recognition and conservative management with lumbar drainage resulted in full recovery without reoperation. Awareness of this potential complication can aid early diagnosis and prevent unnecessary surgical interventions.
{"title":"Early Epidural Cerebrospinal Fluid Leak After Anterior Cervical Discectomy and Fusion: A Case Report of Postoperative Intracranial Hypotension.","authors":"Bartosz Limanówka, Leszek Sagan","doi":"10.12659/AJCR.950550","DOIUrl":"10.12659/AJCR.950550","url":null,"abstract":"<p><p>BACKGROUND Anterior cervical discectomy and fusion (ACDF) is a commonly performed and effective procedure for treating cervical spondylosis. Although cerebrospinal fluid (CSF) leakage is an uncommon complication, occurring in 0.2% to 1.7% of cases, it typically presents as an extraspinal leak. This report describes the case of a 51-year-old woman with postoperative headache due to an early epidural (intraspinal) CSF leak following ACDF - a complication that has not been previously reported. CASE REPORT A 51-year-old woman presented with chronic neck pain, cervicogenic headaches, and upper-limb paresthesia due to multilevel cervical spondylosis. MRI revealed discopathy at C4-C7. She underwent elective ACDF at C4-C7. During discectomy at C5/C6, a CSF leak was observed before exposure of the posterior longitudinal ligament (PLL) and was repaired intraoperatively using TachoSil, a muscle graft, and fibrin glue. On the first postoperative day, the patient developed headaches, nausea, and dizziness consistent with intracranial hypotension. MRI on postoperative day 4 revealed a ventral epidural CSF collection. Lumbar drainage was placed, resulting in resolution of symptoms and the CSF collection. Follow-up MRI at 6 weeks confirmed complete recovery. CONCLUSIONS This report presents a rare case of early epidural CSF leak following ACDF. Prompt recognition and conservative management with lumbar drainage resulted in full recovery without reoperation. Awareness of this potential complication can aid early diagnosis and prevent unnecessary surgical interventions.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"27 ","pages":"e950550"},"PeriodicalIF":0.7,"publicationDate":"2026-01-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12822608/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145967434","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}
Gurpreet Singh, Jack Petroski, Drake Marden, Andrew Knauer
BACKGROUND Gallbladder agenesis is a rare congenital anomaly resulting from failed cystic bud development or canalization during early embryogenesis. While frequently asymptomatic, up to half of patients develop postprandial right upper-quadrant pain resembling biliary colic. This report describes an unusual case of gallbladder agenesis in a 38-year-old man with Klinefelter syndrome who presented with hematemesis and right upper-quadrant pain. CASE REPORT A 38-year-old man with known Klinefelter syndrome (47, XXY) and no prior abdominal surgery presented with hematemesis, lightheadedness, syncope, and right upper-quadrant pain. Laboratory testing revealed mild transaminitis, elevated ferritin, and normal bilirubin. Computed tomography angiography initially revealed hepatic steatosis and splenomegaly, and no gallbladder was visualized on hepatobiliary iminodiacetic acid scan and ultrasound. Esophagogastroduodenoscopy showed mild antral gastritis and a small hiatal hernia without active bleeding. Gallbladder agenesis was confirmed by magnetic resonance cholangiopancreatography. The patient's hematemesis resolved spontaneously, and he was discharged in stable condition with hepatology follow-up. CONCLUSIONS This case highlights the diagnostic value of MRCP in confirming gallbladder agenesis and avoiding unnecessary surgical exploration. Hematemesis as the initial presentation is highly atypical, suggesting a potential but unproven link between gallbladder agenesis and upper-gastrointestinal bleeding. Additionally, this report presents the first known coexistence of GA and Klinefelter syndrome, raising the possibility of a subtle developmental correlation between chromosomal nondisjunction and endodermal organogenesis. Recognition of such rare presentations expands the phenotypic spectrum of Klinefelter-associated hepatobiliary abnormalities and underscores the need for awareness of gallbladder agenesis in patients with biliary-type pain but no visible gallbladder on imaging.
{"title":"Gallbladder Agenesis in a Patient With Klinefelter Syndrome Presenting With Hematemesis and Right Upper-Quadrant Pain.","authors":"Gurpreet Singh, Jack Petroski, Drake Marden, Andrew Knauer","doi":"10.12659/AJCR.949945","DOIUrl":"10.12659/AJCR.949945","url":null,"abstract":"<p><p>BACKGROUND Gallbladder agenesis is a rare congenital anomaly resulting from failed cystic bud development or canalization during early embryogenesis. While frequently asymptomatic, up to half of patients develop postprandial right upper-quadrant pain resembling biliary colic. This report describes an unusual case of gallbladder agenesis in a 38-year-old man with Klinefelter syndrome who presented with hematemesis and right upper-quadrant pain. CASE REPORT A 38-year-old man with known Klinefelter syndrome (47, XXY) and no prior abdominal surgery presented with hematemesis, lightheadedness, syncope, and right upper-quadrant pain. Laboratory testing revealed mild transaminitis, elevated ferritin, and normal bilirubin. Computed tomography angiography initially revealed hepatic steatosis and splenomegaly, and no gallbladder was visualized on hepatobiliary iminodiacetic acid scan and ultrasound. Esophagogastroduodenoscopy showed mild antral gastritis and a small hiatal hernia without active bleeding. Gallbladder agenesis was confirmed by magnetic resonance cholangiopancreatography. The patient's hematemesis resolved spontaneously, and he was discharged in stable condition with hepatology follow-up. CONCLUSIONS This case highlights the diagnostic value of MRCP in confirming gallbladder agenesis and avoiding unnecessary surgical exploration. Hematemesis as the initial presentation is highly atypical, suggesting a potential but unproven link between gallbladder agenesis and upper-gastrointestinal bleeding. Additionally, this report presents the first known coexistence of GA and Klinefelter syndrome, raising the possibility of a subtle developmental correlation between chromosomal nondisjunction and endodermal organogenesis. Recognition of such rare presentations expands the phenotypic spectrum of Klinefelter-associated hepatobiliary abnormalities and underscores the need for awareness of gallbladder agenesis in patients with biliary-type pain but no visible gallbladder on imaging.</p>","PeriodicalId":39064,"journal":{"name":"American Journal of Case Reports","volume":"27 ","pages":"e949945"},"PeriodicalIF":0.7,"publicationDate":"2026-01-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12817595/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145960552","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}