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Unclassified COL6A1 Variant in a Child With Congenital Hypotonia: A Case Report. 先天性肌张力低下儿童COL6A1未分类变异1例报告。
IF 0.6
Clinical Case Reports Pub Date : 2026-10-17 eCollection Date: 2026-10-01 DOI: 10.1002/ccr3.73765
Khadeeja Nofal, Hamza M A Ghaith, Haneen Abdullatif Barghouthi, Mohammad Shahrori, Batool Darraj, Anwar Abu Hetta
{"title":"Unclassified COL6A1 Variant in a Child With Congenital Hypotonia: A Case Report.","authors":"Khadeeja Nofal, Hamza M A Ghaith, Haneen Abdullatif Barghouthi, Mohammad Shahrori, Batool Darraj, Anwar Abu Hetta","doi":"10.1002/ccr3.73765","DOIUrl":"10.1002/ccr3.73765","url":null,"abstract":"<p><p>We report a 3-year-old male with congenital hypotonia, proximal contractures, and distal hyperlaxity. Exome sequencing identified a novel homozygous <i>COL6A1</i> variant (c.2821C>T), classified as a variant of uncertain significance. The distinct phenotype strongly supports Ullrich congenital muscular dystrophy, expanding the gene's mutational spectrum in consanguineous populations.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"14 10","pages":"e73765"},"PeriodicalIF":0.6,"publicationDate":"2026-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675840/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149215071","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
B-Lymphoblastic Leukemia Presenting as Bilateral Ovarian Masses in a 20-Year-Old Woman. 20岁女性双侧卵巢肿块表现为b淋巴母细胞白血病。
IF 0.6
Clinical Case Reports Pub Date : 2026-10-17 eCollection Date: 2026-10-01 DOI: 10.1002/ccr3.73736
Jennifer Cai, David Sin, Marian Varda, Lauren Lewis, James Yeh
{"title":"B-Lymphoblastic Leukemia Presenting as Bilateral Ovarian Masses in a 20-Year-Old Woman.","authors":"Jennifer Cai, David Sin, Marian Varda, Lauren Lewis, James Yeh","doi":"10.1002/ccr3.73736","DOIUrl":"10.1002/ccr3.73736","url":null,"abstract":"<p><p>Hematologic malignancies involving the ovaries are rare and may mimic ovarian carcinoma. We report a 20-year-old woman who presented with generalized body pain, bilateral ovarian masses, and abdominal adenopathy, initially suspected to have ovarian carcinoma. Despite normal blood counts, a retroperitoneal lymph node biopsy and subsequent bone marrow biopsy confirmed B-lymphoblastic leukemia. Molecular analysis identified multiple pathogenic alterations, including <i>CREBBP</i>, <i>KMT2D</i>, and <i>KRAS</i> mutations, <i>CDKN2A</i> copy number loss, and <i>FLT3</i> overexpression. The patient developed tumor lysis syndrome and was transferred to a tertiary center, after which she was lost to follow-up. While long-term treatment response could not be evaluated, this case underscores the clinical necessity of including B-lymphoblastic leukemia/lymphoma in the differential diagnosis of bilateral ovarian masses in young women, even with normal peripheral blood counts. Early tissue diagnosis through minimally invasive biopsy is essential to avoid unnecessary surgery and to initiate appropriate systemic therapy.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"14 10","pages":"e73736"},"PeriodicalIF":0.6,"publicationDate":"2026-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675837/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149215075","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
Preoperative CT Suspicion of Main Pancreatic Duct Injury in Isolated Blunt Pancreatic Trauma: A Case Report With Operative Correlation. 孤立性钝性胰腺创伤术前CT怀疑主胰管损伤1例与手术相关。
IF 0.6
Clinical Case Reports Pub Date : 2026-10-17 eCollection Date: 2026-10-01 DOI: 10.1002/ccr3.73760
Syeda Sarah Kazmi, Syeda Zubaria Qamar, Ahmed Ali, Manahil Sohail Fatani, Syed Ali Haider, Muhammad Farhan, Ahmed Asad Raza, Abedin Samadi
{"title":"Preoperative CT Suspicion of Main Pancreatic Duct Injury in Isolated Blunt Pancreatic Trauma: A Case Report With Operative Correlation.","authors":"Syeda Sarah Kazmi, Syeda Zubaria Qamar, Ahmed Ali, Manahil Sohail Fatani, Syed Ali Haider, Muhammad Farhan, Ahmed Asad Raza, Abedin Samadi","doi":"10.1002/ccr3.73760","DOIUrl":"10.1002/ccr3.73760","url":null,"abstract":"<p><p>An 18-year-old male had persistent tachycardia after blunt abdominal trauma. CT signs raised suspicion of main pancreatic duct disruption in the tail (suspected AAST Grade III). Exploratory laparotomy confirmed ductal transection, managed by spleen-preserving distal pancreatectomy. Six-month follow-up showed no fistula or clinical pancreatic insufficiency.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"14 10","pages":"e73760"},"PeriodicalIF":0.6,"publicationDate":"2026-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675839/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149215066","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
Diffuse Leptomeningeal Glioneuronal Tumor With Initial Diagnosis of Pilocytic Astrocytoma With Anaplasia: A Case Study. 弥漫性轻脑膜胶质神经元肿瘤伴毛细胞星形细胞瘤伴发育不全的初步诊断一例。
IF 0.6
Clinical Case Reports Pub Date : 2026-10-17 eCollection Date: 2026-10-01 DOI: 10.1002/ccr3.73701
Anita Zhou, Joseph Carmicheal, Jie Chen, Chi Zhang
{"title":"Diffuse Leptomeningeal Glioneuronal Tumor With Initial Diagnosis of Pilocytic Astrocytoma With Anaplasia: A Case Study.","authors":"Anita Zhou, Joseph Carmicheal, Jie Chen, Chi Zhang","doi":"10.1002/ccr3.73701","DOIUrl":"10.1002/ccr3.73701","url":null,"abstract":"<p><p>Diffuse leptomeningeal glioneuronal tumor is a rare central nervous system tumor with imaging findings including leptomeningeal enhancement and nodular/cystic lesions. This case highlights how patients can have differing imaging features, requiring whole-genome DNA methylation profiling for diagnosis, and demonstrates successful treatment after initial descriptive diagnosis of pilocytic astrocytoma with anaplasia.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"14 10","pages":"e73701"},"PeriodicalIF":0.6,"publicationDate":"2026-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675905/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149215123","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
Spontaneous Bilateral Vesical Artery Pseudoaneurysms Presenting With Massive Recurrent Hematuria and Obstructive Acute Kidney Injury: A Case Report. 自发性双侧膀胱动脉假性动脉瘤伴大量反复血尿及阻塞性急性肾损伤1例报告。
IF 0.6
Clinical Case Reports Pub Date : 2026-10-16 eCollection Date: 2026-10-01 DOI: 10.1002/ccr3.73739
Dheeraj Kumar Alias Sailish, Amisha Kumari, Hadia Jamil, Sardar Ravi Singh, Muhammad Hassaan Javaid, Muddassir Khalid, Fred Segawa
{"title":"Spontaneous Bilateral Vesical Artery Pseudoaneurysms Presenting With Massive Recurrent Hematuria and Obstructive Acute Kidney Injury: A Case Report.","authors":"Dheeraj Kumar Alias Sailish, Amisha Kumari, Hadia Jamil, Sardar Ravi Singh, Muhammad Hassaan Javaid, Muddassir Khalid, Fred Segawa","doi":"10.1002/ccr3.73739","DOIUrl":"10.1002/ccr3.73739","url":null,"abstract":"<p><p>Spontaneous development of vesical artery pseudoaneurysm (VA-PA) as a cause of life-threatening hematuria is very rare. Most of the existing reports are due to trauma or other types of pelvic surgeries/urological procedures. Incomplete hemostasis in these patients can lead to subsequent complications such as clot retention, severe blood loss resulting in anemia and obstructive AKI. We report this extremely rare case of a 35 year old lady with bilateral VA-PA causing recurrent episodes of massive hematuria and obstructive AKI that was ultimately resolved by selective embolization. A 35-year-old female presented with a history of gross hematuria along with clot retention and severe anemia. She also had signs of obstructive AKI which required her to have temporary dialysis. Cystoscopy showed intravesical clot but no bleed site was identified on initial evaluation. On contrast-enhanced CT scan, there were pseudoaneurysms found from both sides coming off from left superior and right inferior branches of vesical artery. Following confirmation by selective pelvic angiogram, we did a superselective embolization using micro coils and PVOH particles to occlude both pseudoaneurysms. This resulted in immediate cessation of hematuria, normalization of renal functions and stabilization of Hb values. At last follow-up done in 6 weeks' time, all symptoms had resolved and there was complete thrombosis of both the lesions seen on imaging. Bilateral spontaneous vesical artery pseudoaneurysm is a condition that must be suspected in a patient presenting with recurrent episodes of severe hematuria despite having undergone seemingly successful endoscopic treatment. Immediate imaging of the vessels and selective angioembolization is the surest means of diagnosis and treatment, thus avoiding further complications.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"14 10","pages":"e73739"},"PeriodicalIF":0.6,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13673404/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149215094","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
Recurrent Supraventricular Tachycardia Triggered by Tea Consumption in a Postoperative Adolescent Female: A Case Report. 青少年女性术后饮茶引发复发性室上性心动过速1例报告。
IF 0.6
Clinical Case Reports Pub Date : 2026-10-16 eCollection Date: 2026-10-01 DOI: 10.1002/ccr3.73741
Mukti Nath Sankhi, Raj Kumar Thapa, Pramila Dhakal, Nirmal Shrestha, Nabin Adhikari, Rajiv Sitaula, Santosh Kumar Singh
{"title":"Recurrent Supraventricular Tachycardia Triggered by Tea Consumption in a Postoperative Adolescent Female: A Case Report.","authors":"Mukti Nath Sankhi, Raj Kumar Thapa, Pramila Dhakal, Nirmal Shrestha, Nabin Adhikari, Rajiv Sitaula, Santosh Kumar Singh","doi":"10.1002/ccr3.73741","DOIUrl":"10.1002/ccr3.73741","url":null,"abstract":"<p><p>Supraventricular tachycardia (SVT) in adolescents may be triggered by physiological stress or caffeine. We report a 16-year-old girl who complained of palpitations, dyspnea, and regular tachycardia (170 beats/min) after tea intake. ECG showed SVT and intravenous adenosine restored sinus rhythm. Recognizing dietary stimulants as potential precipitants of SVT is important.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"14 10","pages":"e73741"},"PeriodicalIF":0.6,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675651/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149215132","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
Giant Cavernous Hemangioma in the Mesentery of the Descending Colon: A Case Report. 降结肠肠系膜巨大海绵状血管瘤1例报告。
IF 0.6
Clinical Case Reports Pub Date : 2026-10-16 eCollection Date: 2026-10-01 DOI: 10.1002/ccr3.73742
Dong Xie, Jinna Yu, Dan Shi, Yaqi Jiang
{"title":"Giant Cavernous Hemangioma in the Mesentery of the Descending Colon: A Case Report.","authors":"Dong Xie, Jinna Yu, Dan Shi, Yaqi Jiang","doi":"10.1002/ccr3.73742","DOIUrl":"10.1002/ccr3.73742","url":null,"abstract":"<p><p>Gastrointestinal hemangiomas are rare, and those involving the mesentery are even more infrequent. The majority of cases reported in the literature had mesenteric cavernous hemangioma of the small intestine. To the best of our knowledge, this is the first documented case of a hemangioma originating from the mesentery of the descending colon. Preoperative diagnosis is exceedingly difficult, and various imaging modalities may be inconclusive. The patient was a 71-year-old Asian male presenting with recurrent dizziness and fatigue over several months. Physical examination revealed a mass that was palpable in the left mid-abdominal region. Laboratory examinations suggested gastrointestinal bleeding and anemia. Abdominal CT scans revealed a large mesenteric mass in the descending colon. The mass was surgically resected, and histopathological examination confirmed mesenteric cavernous hemangioma. The patient showed no signs of recurrence in 1 year of postoperative follow-up.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"14 10","pages":"e73742"},"PeriodicalIF":0.6,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675654/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149215060","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
A Novel De Novo Heterozygous Missense Variant in CTNNB1 (c.2215A>C, p.Met739Leu) Underlying Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects (NEDSDV): A Case Report. CTNNB1 （C . 2215a >C, p.Met739Leu）一种新的从头杂合错义变异（C . 2215a >C, p.Met739Leu）潜在神经发育障碍伴痉挛性双瘫和视力缺陷（NEDSDV）一例报告。
IF 0.6
Clinical Case Reports Pub Date : 2026-10-16 eCollection Date: 2026-10-01 DOI: 10.1002/ccr3.73743
Omar Jamal Ibrahim, Ali Rajabi, Mortaza Bonyadi, Mohammad Barzegar
{"title":"A Novel <i>De Novo</i> Heterozygous Missense Variant in <i>CTNNB1</i> (c.2215A>C, p.Met739Leu) Underlying Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects (NEDSDV): A Case Report.","authors":"Omar Jamal Ibrahim, Ali Rajabi, Mortaza Bonyadi, Mohammad Barzegar","doi":"10.1002/ccr3.73743","DOIUrl":"10.1002/ccr3.73743","url":null,"abstract":"<p><p>We report a 7-year-old male with microcephaly, spasticity, strabismus, dysmorphism, autistic behaviors, and moderate ID due to a novel <i>de novo</i> likely pathogenic <i>CTNNB1</i> variant (c.2215A>C, p.Met739Leu). This case underscores Whole Exome Sequencing's diagnostic utility for early detection of rare monogenic neurodevelopmental disorders.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"14 10","pages":"e73743"},"PeriodicalIF":0.6,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13674167/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149215107","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
Improvement of Erectile Function After Switching From Valsartan to Olmesartan Within a Fixed-Dose Antihypertensive Combination: A Case Report. 固定剂量降压联合用药缬沙坦改用奥美沙坦后勃起功能的改善1例报告。
IF 0.6
Clinical Case Reports Pub Date : 2026-10-16 eCollection Date: 2026-10-01 DOI: 10.1002/ccr3.73718
Mario Ćurković, Nika Ćurković
{"title":"Improvement of Erectile Function After Switching From Valsartan to Olmesartan Within a Fixed-Dose Antihypertensive Combination: A Case Report.","authors":"Mario Ćurković, Nika Ćurković","doi":"10.1002/ccr3.73718","DOIUrl":"10.1002/ccr3.73718","url":null,"abstract":"<p><p>Intra-class differences may exist between ARBs regarding tissue-specific outcomes. In this case, valsartan was probably associated with erectile dysfunction (Naranjo score 7). Switching to olmesartan was followed by resolutions of symptoms. An intra-class switch may be considered in selected patients with suspected drug-associated erectile dysfunction after evaluating other vascular, metabolic, or lifestyle contributions. Clinicians should remain cautious, as concurrent treatment modifications can confound definitive causal attributions.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"14 10","pages":"e73718"},"PeriodicalIF":0.6,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13673293/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149215077","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
Weil's Syndrome Masquerading as Acute Cholangitis: A Case Report of a Farmer With Leptospirosis. 韦尔氏综合征伪装成急性胆管炎：一例农民钩端螺旋体病报告。
IF 0.6
Clinical Case Reports Pub Date : 2026-10-16 eCollection Date: 2026-10-01 DOI: 10.1002/ccr3.73751
Ahmed Ali Shaikh, Fiza Shaikh, Saad Arshad, Tarachand Devrajani, Humayou Ahmed, Manal Al-Dhaheri
{"title":"Weil's Syndrome Masquerading as Acute Cholangitis: A Case Report of a Farmer With Leptospirosis.","authors":"Ahmed Ali Shaikh, Fiza Shaikh, Saad Arshad, Tarachand Devrajani, Humayou Ahmed, Manal Al-Dhaheri","doi":"10.1002/ccr3.73751","DOIUrl":"10.1002/ccr3.73751","url":null,"abstract":"<p><p>Leptospirosis can masquerade as acute cholangitis with cholestatic jaundice, fever, and leukocytosis. In febrile patients with cholestatic liver profile without biliary obstruction, especially farmers with calf pain and conjunctival suffusion, consider leptospirosis early to initiate timely antibiotics and prevent poor outcomes.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"14 10","pages":"e73751"},"PeriodicalIF":0.6,"publicationDate":"2026-10-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13675650/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149215139","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
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