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Annals of internal medicine. Clinical cases最新文献

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Report of Concomitant Intracranial Cysts in Unrelated Patients With Heterozygous Germline NF1 Pathogenic Variants. 非相关种系NF1杂合子致病变异患者并发颅内囊肿的报道。
Annals of internal medicine. Clinical cases Pub Date : 2026-02-01 Epub Date: 2026-02-03 DOI: 10.7326/aimcc.2025.0802
Ehab Y Harahsheh, Erin Merritt, Judy B Tejon, Bukola A Olarewaju, Misha B Asif, Dusica Babovic-Vuksanovic, Mayowa A Osundiji
{"title":"Report of Concomitant Intracranial Cysts in Unrelated Patients With Heterozygous Germline <i>NF1</i> Pathogenic Variants.","authors":"Ehab Y Harahsheh, Erin Merritt, Judy B Tejon, Bukola A Olarewaju, Misha B Asif, Dusica Babovic-Vuksanovic, Mayowa A Osundiji","doi":"10.7326/aimcc.2025.0802","DOIUrl":"10.7326/aimcc.2025.0802","url":null,"abstract":"<p><p>Neurofibromatosis 1 (NF1) is one of the most common genetic diseases of the central nervous system. The nature of intracranial lesions that are associated with NF1 are yet to be fully defined. Arachnoid, velum interpositum, and odontogenic cysts are among the more common intracranial cystic lesions that can be congenital. Although odontogenic cysts are well known to be associated with Gorlin-Goltz syndrome, the possibilities of other genetic disorders in patients with odontogenic and other intracranial cystic lesions have continued to stir research interests. Here, we report 2 cases of unrelated patients, each patient having concurrent intracranial cystic lesions in the setting of a diagnosis of NF1. Individual I had concomitant arachnoid and odontogenic cysts in parallel with a novel heterozygous germline <i>NF1</i> pathogenic frameshift variant, <i>NF1</i> [NM_000267.3] c.40del (p.Val14Serfs*10). Individual II had concomitant arachnoid and vellum interpositum cysts in the context of a heterozygous likely pathogenic <i>NF1</i> germline variant [<i>NF1</i> (NM_000267.3) c.4265C>T, p.(Ser1422Leu)]. Our observations suggest that clinicians should consider NF1 among the differential diagnosis for intracranial cystic lesions such as arachnoid, vellum interpositum, and odontogenic cysts.</p>","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"5 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-02-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12904477/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146203961","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}
引用次数: 0
Congenital Coarctation of the Aorta in a Patient With ROBO4 c.695C>T (p.Thr232Met) Germline Variant. ROBO4 c.695C>T （p.s thr232met）种系变异患者的先天性主动脉缩窄
Annals of internal medicine. Clinical cases Pub Date : 2026-01-01 Epub Date: 2026-01-06 DOI: 10.7326/aimcc.2025.0735
Mohammad Karam Chaaban, George Bcharah, Bukola A Olarewaju, Linnea M Baudhuin, Fadi Shamoun, Mayowa A Osundiji
{"title":"Congenital Coarctation of the Aorta in a Patient With <i>ROBO4</i> c.695C>T (p.Thr232Met) Germline Variant.","authors":"Mohammad Karam Chaaban, George Bcharah, Bukola A Olarewaju, Linnea M Baudhuin, Fadi Shamoun, Mayowa A Osundiji","doi":"10.7326/aimcc.2025.0735","DOIUrl":"10.7326/aimcc.2025.0735","url":null,"abstract":"<p><p>Roundabout guidance receptor 4 (<i>ROBO4</i>) germline variants [including c.695C>T (p.Thr232Met)] have been linked with bicuspid aortic valve and thoracic aortic aneurysm. However, the precise nature of <i>ROBO4</i>'s role in aortopathy is yet to be fully defined. We studied a 64-year-old woman with a history of surgically corrected congenital aortic coarctation in childhood, bicuspid aortic valve, and mild mitral regurgitation. She had genome sequencing, which revealed a heterozygous germline <i>ROBO4</i> variant [c.695C>T (p.Thr232Met)]. Our findings suggest that the spectrum of aortic abnormalities that are associated with <i>ROBO4</i> germline variants may include congenital coarctation of the aorta.</p>","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"5 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2026-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12851620/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"146087995","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}
引用次数: 0
Movement Disorder Following Hypoglycemic Encephalopathy in Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase-2 (mHS) Deficiency. 线粒体3-羟基-3-甲基戊二酰辅酶a合成酶-2 （mHS）缺乏的低血糖性脑病后运动障碍
Annals of internal medicine. Clinical cases Pub Date : 2025-08-01 Epub Date: 2025-08-05 DOI: 10.7326/aimcc.2025.0080
Mayowa A Osundiji, Alicia Chen, Joseph D Farris, Radhika Dhamija
{"title":"Movement Disorder Following Hypoglycemic Encephalopathy in Mitochondrial 3-Hydroxy-3-methylglutaryl-CoA Synthase-2 (mHS) Deficiency.","authors":"Mayowa A Osundiji, Alicia Chen, Joseph D Farris, Radhika Dhamija","doi":"10.7326/aimcc.2025.0080","DOIUrl":"https://doi.org/10.7326/aimcc.2025.0080","url":null,"abstract":"<p><p>Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase (mHS) deficiency is an ultra-rare inborn error of ketone body synthesis that is caused by biallelic mutations in <i>HMGCS2</i>. The manifestations of mHS deficiency can include hypoketotic hypoglycemia, metabolic acidosis, lethargy, encephalopathy, hyperammonemia, and hepatomegaly. Here, we report a case of movement disorder following hypoglycemic encephalopathy involving the basal ganglia in a patient with mHS deficiency. Exome sequencing showed novel compound heterozygous variants in <i>HMGCS2</i>, a partial gene deletion (classified as pathogenic) and c.704T>A (p.M235K) variant that was deemed to be likely pathogenic. Our findings suggest that mHS deficiency can result in basal ganglia injury and movement disorder.</p>","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"4 8","pages":""},"PeriodicalIF":0.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12377477/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144980731","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}
引用次数: 0
Severe, Refractory Primary Warm Autoimmune Hemolytic Anemia Requiring 90 Erythrocyte Transfusions. 需要输注 90 次红细胞的严重难治性原发性温暖自身免疫性溶血性贫血。
Annals of internal medicine. Clinical cases Pub Date : 2024-05-01 Epub Date: 2024-05-07 DOI: 10.7326/aimcc.2023.1141
Neeharika Namineni, Christina Waldron, Christopher Tormey, George Goshua
{"title":"Severe, Refractory Primary Warm Autoimmune Hemolytic Anemia Requiring 90 Erythrocyte Transfusions.","authors":"Neeharika Namineni, Christina Waldron, Christopher Tormey, George Goshua","doi":"10.7326/aimcc.2023.1141","DOIUrl":"10.7326/aimcc.2023.1141","url":null,"abstract":"<p><p>A previously healthy 60-year-old man presented to the hospital with a hemoglobin of 3.5 g/dL. He was diagnosed with severe warm autoimmune hemolytic anemia (wAIHA) with reticulocytopenia on hospital day 1 that was not responsive to steroids, immune globulin, and rituximab. Over a 42-day hospital stay, the patient remained continuously transfusion-dependent with a ninety red cell unit requirement for his refractory disease. He was trialed on therapeutic plasma exchange before ultimately undergoing inpatient splenectomy that led to a response within hours. He remains in complete remission at six months of follow-up.</p>","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"3 5","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11081177/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140900655","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}
引用次数: 0
Ischemic Complications of Giant-Cell Arteritis 巨细胞动脉炎的缺血性并发症
Annals of internal medicine. Clinical cases Pub Date : 2023-11-01 DOI: 10.7326/aimcc.2023.0560
Fátima Raad, Vicente Ramos Polledo, Andreu Fernández-Codina, Fernando De La Iglesia Martínez
{"title":"Ischemic Complications of Giant-Cell Arteritis","authors":"Fátima Raad, Vicente Ramos Polledo, Andreu Fernández-Codina, Fernando De La Iglesia Martínez","doi":"10.7326/aimcc.2023.0560","DOIUrl":"https://doi.org/10.7326/aimcc.2023.0560","url":null,"abstract":"Giant-cell arteritis (GCA) is a medium- to large-vessel arteritis predominantly involving the branches of the aorta, occurring in elderly patients. Findings in GCA include symptoms such as headache, jaw claudication, or polymyalgia rheumatica; ischemic events; and signs of a systemic inflammatory reaction. The clinical presentation may rarely involve other areas. We report the case of an 85-year-old man with biopsy-proven GCA presenting with fever, weight loss, and scalp necrosis.","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"26 4","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135509674","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Recurrent Strokes in a Hypertensive Smoker: An Atypical Case and Review of Thrombotic Thrombocytopenic Purpura 高血压吸烟者的复发性卒中:血栓性血小板减少性紫癜的一个不典型病例和回顾
Annals of internal medicine. Clinical cases Pub Date : 2023-11-01 DOI: 10.7326/aimcc.2023.0424
Nithya Ramesh, Shanjeev Kumar Rajeshkumar Chitra, Udunma Ikoro, Sohiel Deshpande, Vartika Singh, Vidhi Mehta, Andre Posner
{"title":"Recurrent Strokes in a Hypertensive Smoker: An Atypical Case and Review of Thrombotic Thrombocytopenic Purpura","authors":"Nithya Ramesh, Shanjeev Kumar Rajeshkumar Chitra, Udunma Ikoro, Sohiel Deshpande, Vartika Singh, Vidhi Mehta, Andre Posner","doi":"10.7326/aimcc.2023.0424","DOIUrl":"https://doi.org/10.7326/aimcc.2023.0424","url":null,"abstract":"Thrombotic thrombocytopenic purpura (TTP) can present with neurologic symptoms before the development of typical hematologic abnormalities. We describe a patient presenting with decreased grip strength in his right hand who was found to have an ischemic stroke from acute TTP. In the setting of subtle hematologic abnormalities, detection of severely decreased ADAMTS13 activity aided in early diagnosis and prompt initiation of plasmapheresis. Hence, we emphasize the need for high clinical suspicion for TTP in patients with recurrent and cryptogenic strokes, especially in the setting of subtle hematologic findings, as early treatment decreases mortality rate by almost 90%.","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"27 2","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135509841","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Recognition and Treatment of a Right Ventricular Air Embolism 右心室空气栓塞的识别与治疗
Annals of internal medicine. Clinical cases Pub Date : 2023-11-01 DOI: 10.7326/aimcc.2023.0817
Leon Sun, Katherine I. Harris
{"title":"Recognition and Treatment of a Right Ventricular Air Embolism","authors":"Leon Sun, Katherine I. Harris","doi":"10.7326/aimcc.2023.0817","DOIUrl":"https://doi.org/10.7326/aimcc.2023.0817","url":null,"abstract":"Right ventricular air embolism is a rare and dangerous condition that frequently presents with nonspecific symptoms, making diagnosis difficult. We present a case involving a young woman with concerning symptoms following routine injection of contrast. Computed tomography scan visualizing the heart confirmed the finding of a large air embolism. We describe the immediate actions taken and the subsequent treatment provided.","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"26 1","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135509675","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
A Heterozygous Variant of TGFB3 in a Patient With an Atypical Presentation of Loeys–Dietz Syndrome: A Case Report 一个不典型Loeys-Dietz综合征患者的TGFB3杂合变异:一个病例报告
Annals of internal medicine. Clinical cases Pub Date : 2023-11-01 DOI: 10.7326/aimcc.2023.0035
Tarika D. Patel, Meagan N. McNicholas, Christina M. Laukaitis
{"title":"A Heterozygous Variant of <i>TGFB3</i> in a Patient With an Atypical Presentation of Loeys–Dietz Syndrome: A Case Report","authors":"Tarika D. Patel, Meagan N. McNicholas, Christina M. Laukaitis","doi":"10.7326/aimcc.2023.0035","DOIUrl":"https://doi.org/10.7326/aimcc.2023.0035","url":null,"abstract":"Loeys–Dietz syndrome (LDS) 5 is characterized by aortic aneurysms, hypertelorism, and cleft palate/bifid uvula. We describe a woman with a transforming growth factor beta3 (TGFβ3) mutation who displays a forme fruste phenotype of LDS5. A 43-year-old woman with joint pain and hypermobile joints underwent evaluation for hypermobile Ehlers–Danlos syndrome. Her features included pes planus, treated high-arched palate, and increased joint mobility. Genetic analysis identified a pathogenic TGFβ3 variant (c.427A>T, p.Arg143*), clarifying the diagnosis of LDS5. Comparing our patient with others with TGFB3 mutations illustrated the diversity of LDS5 features, often a milder forme fruste form, which warrants more investigation due to insufficient characterization.","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"23 12","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135509691","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Paraneoplastic Leukemoid Reaction in High-Grade Lung Adenocarcinoma Complicated by Triple Co-Mutations 高级别肺腺癌并发三重共突变的副肿瘤样白血病反应
Annals of internal medicine. Clinical cases Pub Date : 2023-11-01 DOI: 10.7326/aimcc.2023.0502
Kim L. Tran, Seema R. Walvekar, Brian C. Boulmay, Sarah W. Lungaro, Jasmine L. Taylor
{"title":"Paraneoplastic Leukemoid Reaction in High-Grade Lung Adenocarcinoma Complicated by Triple Co-Mutations","authors":"Kim L. Tran, Seema R. Walvekar, Brian C. Boulmay, Sarah W. Lungaro, Jasmine L. Taylor","doi":"10.7326/aimcc.2023.0502","DOIUrl":"https://doi.org/10.7326/aimcc.2023.0502","url":null,"abstract":"","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"27 5","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135509839","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Systemic Emboli and Biventricular Hypertrophy Due to Glycogen Storage Disease: Clinical, Imaging, and Pathologic Predicament 糖原蓄积病引起的全身栓塞和双心室肥厚:临床、影像学和病理困境
Annals of internal medicine. Clinical cases Pub Date : 2023-11-01 DOI: 10.7326/aimcc.2023.0463
Amirhossein Esmaeeli, Prashant Nagpal, Jefree J. Schulte, Sofia C. Masri, Peter S. Rahko
{"title":"Systemic Emboli and Biventricular Hypertrophy Due to Glycogen Storage Disease: Clinical, Imaging, and Pathologic Predicament","authors":"Amirhossein Esmaeeli, Prashant Nagpal, Jefree J. Schulte, Sofia C. Masri, Peter S. Rahko","doi":"10.7326/aimcc.2023.0463","DOIUrl":"https://doi.org/10.7326/aimcc.2023.0463","url":null,"abstract":"Glycogen storage disease cardiomyopathy is being recognized increasingly as a mimicker of hypertrophic cardiomyopathy. It is important to diagnose these diseases, as there are prognostic and treatment ramifications. This case report discusses a patient who presented with cardioembolic renal infarction and was ultimately diagnosed with glycogen storage disease XV (which is extremely rare). The diagnosis was made by pursuing multimodality imaging, endomyocardial biopsy, and genetic testing.","PeriodicalId":72222,"journal":{"name":"Annals of internal medicine. Clinical cases","volume":"24 6","pages":"0"},"PeriodicalIF":0.0,"publicationDate":"2023-11-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135509686","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
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