Clinical Case Reports最新文献

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A Massive Interstitial Cervical Leiomyoma Successfully Treated With Myomectomy: A Case Report 子宫肌瘤切除术成功治疗宫颈间质性肌瘤1例。
IF 0.6
Clinical Case Reports Pub Date : 2025-10-01 DOI: 10.1002/ccr3.71067
Marah Mansour, Komait Swaid, Marah Razouk, Samaya Ibrahim Abdeen, Siba Baki, Mais Kwara, Ilda Kanbour
{"title":"A Massive Interstitial Cervical Leiomyoma Successfully Treated With Myomectomy: A Case Report","authors":"Marah Mansour,&nbsp;Komait Swaid,&nbsp;Marah Razouk,&nbsp;Samaya Ibrahim Abdeen,&nbsp;Siba Baki,&nbsp;Mais Kwara,&nbsp;Ilda Kanbour","doi":"10.1002/ccr3.71067","DOIUrl":"10.1002/ccr3.71067","url":null,"abstract":"<p>Cervical leiomyomas are rare pelvic tumors, with interstitial subtypes being the least common. This case highlights a 44-year-old female with a 14-mm interstitial cervical leiomyoma, successfully treated with myomectomy. This approach preserved fertility, demonstrating its feasibility as an alternative to hysterectomy for select patients.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12485284/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211942","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 Rare Case of Blastomycosis in a Psoriasis Patient Treated With Ustekinumab (Stelara) Ustekinumab (Stelara)治疗银屑病患者中罕见的芽孢菌病病例。
IF 0.6
Clinical Case Reports Pub Date : 2025-10-01 DOI: 10.1002/ccr3.71098
Fatima Ghaffar, Ahmed Hassan, Masab Ali, Hafiz Noman Ijaz, Sajjad Jameel, Monika Kumari, Muhammad Husnain Ahmad
{"title":"A Rare Case of Blastomycosis in a Psoriasis Patient Treated With Ustekinumab (Stelara)","authors":"Fatima Ghaffar,&nbsp;Ahmed Hassan,&nbsp;Masab Ali,&nbsp;Hafiz Noman Ijaz,&nbsp;Sajjad Jameel,&nbsp;Monika Kumari,&nbsp;Muhammad Husnain Ahmad","doi":"10.1002/ccr3.71098","DOIUrl":"10.1002/ccr3.71098","url":null,"abstract":"<p>Psoriasis is a chronic inflammatory skin condition mediated by T-helper 1 (Th1) and T-helper 17 (Th17) cytokines, including interleukin (IL)-12, IL-23, IL-17, and tumor necrosis factor alpha (TNF-α). Ustekinumab, a human monoclonal antibody against the p40 subunit of IL-12/23, has revolutionized treatment of moderate to severe psoriasis but carries a risk of opportunistic infections due to impaired cell-mediated immunity. We describe a 54-year-old man from Kentucky with type 2 diabetes and chronic sinusitis, receiving ustekinumab for 1 year for plaque psoriasis. He presented with recurrent pneumonia unresponsive to multiple courses of amoxicillin-clavulanate, azithromycin, and levofloxacin. Chest imaging consistently demonstrated left lower lobe airspace opacities, initially attributed to nonresolving bacterial pneumonia or possible malignancy. On bronchoscopy with bronchoalveolar lavage, scattered broad-based budding yeast were visualized, and culture confirmed <i>Blastomyces dermatitidis</i>. The patient was initiated on oral itraconazole, resulting in symptomatic relief and gradual radiographic resolution over 6 months of follow-up. Although pulmonary blastomycosis is rare (1–2 cases per 100,000 in endemic areas), clinicians should maintain a high index of suspicion for endemic mycoses in immunosuppressed patients on biologic therapies presenting with persistent pulmonary infiltrates. Early invasive diagnostics and targeted antifungal therapy are critical to prevent morbidity and improve outcomes.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12485289/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211951","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
Delayed TSC Diagnosis Presenting as End-Stage Renal Disease With Renal and Hepatic Angiomyolipoma: Case Report and Review 延迟TSC诊断为终末期肾脏疾病合并肾脏和肝脏血管平滑肌脂肪瘤:病例报告和回顾。
IF 0.6
Clinical Case Reports Pub Date : 2025-10-01 DOI: 10.1002/ccr3.70937
Changlin Wei, Yangfei He, Huairong Yan, Mei Yang, Lichuan Yang, Jiaojiao Zhou
{"title":"Delayed TSC Diagnosis Presenting as End-Stage Renal Disease With Renal and Hepatic Angiomyolipoma: Case Report and Review","authors":"Changlin Wei,&nbsp;Yangfei He,&nbsp;Huairong Yan,&nbsp;Mei Yang,&nbsp;Lichuan Yang,&nbsp;Jiaojiao Zhou","doi":"10.1002/ccr3.70937","DOIUrl":"10.1002/ccr3.70937","url":null,"abstract":"<p>Tuberous sclerosis complex (TSC) is a rare and complex autosomal dominant disease. Many patients with TSC may remain undiagnosed for years due to its widespread and heterogeneous clinical presentation, with only 1% of TSC patients developing end-stage renal disease (ESRD). This case report presents a 50-year-old woman newly diagnosed with TSC due to ESRD. She had facial lesions in childhood, was diagnosed with renal angiomyolipoma (AML) in adulthood, and her daughter died of TSC-related epilepsy, but she was not diagnosed with TSC until the age of 50 when admitted to a nephrology unit for renal dysfunction. Additionally, the patient had multiple rare concurrent lesions, including ESRD, pulmonary lymphangiomyomatosis (PLAM), renal AML, and hepatic AML. To raise clinicians' awareness of the coexistence of renal and pulmonary lesions in TSC, 47 rare TSC case reports were reviewed and their clinical features analyzed. This case and literature review highlight the overlapping spectrum of renal AML, PLAM, and TSC, underscoring the importance of a systemic diagnostic approach for patients with these lesions. Proactive investigation of TSC can facilitate early intervention and improve outcomes, particularly in preventing progression to ESRD.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12485285/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211957","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
Topical Estradiol Gel Leading to Laboratory Error in Serum Estradiol Measurement: A Diagnostic Pitfall 局部雌二醇凝胶导致血清雌二醇测量的实验室误差:一个诊断缺陷。
IF 0.6
Clinical Case Reports Pub Date : 2025-10-01 DOI: 10.1002/ccr3.71077
Takeki Sato, Masahito Tachibana, Hiroaki Hiraga, Emi Yokoyama, Zen Watanabe, Masatoshi Saito
{"title":"Topical Estradiol Gel Leading to Laboratory Error in Serum Estradiol Measurement: A Diagnostic Pitfall","authors":"Takeki Sato,&nbsp;Masahito Tachibana,&nbsp;Hiroaki Hiraga,&nbsp;Emi Yokoyama,&nbsp;Zen Watanabe,&nbsp;Masatoshi Saito","doi":"10.1002/ccr3.71077","DOIUrl":"10.1002/ccr3.71077","url":null,"abstract":"<p>Estradiol gel is commonly used as an estrogen replacement therapy for patients with menopausal symptoms. Herein, we present a case of a patient with iatrogenic primary ovarian insufficiency who exhibited an abnormally elevated serum estradiol concentration (5634.0 pg/mL) during routine estradiol monitoring. A detailed interview revealed that the cause of these elevated levels was contamination of the needle used to draw her blood with gel from her skin. To the best of our knowledge, this is the first report of estradiol concentrations exceeding 2000 pg/mL due to such contamination. This phenomenon is not well known and is not described in package inserts or guidelines. There is a risk that misleadingly high serum estradiol concentrations may lead to inappropriate dose adjustments, potentially negatively affecting the health of the patients. Thus, clinicians must provide precise instructions to patients to avoid applying the gel around the area where venipuncture is to be performed.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12485269/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211978","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
Management of Oehler's Type II Dens Invaginatus in a Maxillary Lateral Incisor With Asymptomatic Periapical Periodontitis: A Case Report 无症状根尖周炎上颌侧切牙Oehler型牙槽内陷1例。
IF 0.6
Clinical Case Reports Pub Date : 2025-10-01 DOI: 10.1002/ccr3.71097
Abbas Basiri, Sholeh Ghabraei, Hadi Assadian, Somayeh Majidi
{"title":"Management of Oehler's Type II Dens Invaginatus in a Maxillary Lateral Incisor With Asymptomatic Periapical Periodontitis: A Case Report","authors":"Abbas Basiri,&nbsp;Sholeh Ghabraei,&nbsp;Hadi Assadian,&nbsp;Somayeh Majidi","doi":"10.1002/ccr3.71097","DOIUrl":"10.1002/ccr3.71097","url":null,"abstract":"<p>Dens invaginatus (DI), also known as dens in dente, is a rare developmental anomaly where the enamel organ folds into the dental papilla, resulting in complex anatomical structures. This anomaly predisposes teeth to early pulp involvement, periapical pathology, and treatment challenges, particularly in maxillary lateral incisors, which are most frequently affected. Early diagnosis and the use of advanced imaging are critical in ensuring effective treatment. This report details the successful nonsurgical endodontic treatment of a 23-year-old female with Oehler's type II dens invaginatus in the maxillary left lateral incisor (tooth #10). The patient presented with a non-vital tooth and periapical lesion, with CBCT confirming the invagination's extent and classification. Treatment utilized a dental operating microscope (DOM) to create dual-level access cavities, allowing thorough debridement and disinfection of both the main and invaginated canals, irrigated with sodium hypochlorite and EDTA and obturated with mineral trioxide aggregate (MTA) and gutta-percha. At a 14-month follow-up, complete periapical healing and tooth retention were observed. This case emphasizes the complexity of Type II dens invaginatus anatomy and highlights the critical roles of CBCT and DOM in diagnosis and management, alongside appropriate material selection and advanced techniques to achieve favorable outcomes. Early detection combined with precise imaging and conservative endodontic treatment can lead to successful clinical and radiographic resolution.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12485280/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212016","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
Glycogenic Hepatopathy: A Case Report of a Rare Complication in Uncontrolled Diabetes 糖原性肝病:1例未控制糖尿病罕见并发症报告。
IF 0.6
Clinical Case Reports Pub Date : 2025-10-01 DOI: 10.1002/ccr3.71079
Mais Musleh, Amani AlMokbel
{"title":"Glycogenic Hepatopathy: A Case Report of a Rare Complication in Uncontrolled Diabetes","authors":"Mais Musleh,&nbsp;Amani AlMokbel","doi":"10.1002/ccr3.71079","DOIUrl":"10.1002/ccr3.71079","url":null,"abstract":"<p>Glycogenic hepatopathy (GH) is an underrecognized yet reversible cause of hepatomegaly and transaminase elevation in adolescents with poorly controlled type 1 diabetes mellitus (T1DM). While liver biopsy is often utilized to exclude other hepatic pathologies, it can also aid in confirming GH when noninvasive findings are inconclusive. We present a case of an 18-year-old male with type 1 diabetes, whose poorly controlled condition led to the development of GH. The diagnosis was confirmed through a liver biopsy, emphasizing the significance of early detection and proper glycemic management in preventing irreversible liver damage.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12485270/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211986","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
Heterotopic Pancreas in the Gallbladder: An Incidental Finding Following Laparoscopic Cholecystectomy in a Patient With Cholelithiasis 胆囊异位胰腺:胆石症患者腹腔镜胆囊切除术后的偶然发现。
IF 0.6
Clinical Case Reports Pub Date : 2025-10-01 DOI: 10.1002/ccr3.71091
Aram Farhoudian, Sepideh Hadimaleki, Bahareh Mehramouz, Amirreza Khalaji
{"title":"Heterotopic Pancreas in the Gallbladder: An Incidental Finding Following Laparoscopic Cholecystectomy in a Patient With Cholelithiasis","authors":"Aram Farhoudian,&nbsp;Sepideh Hadimaleki,&nbsp;Bahareh Mehramouz,&nbsp;Amirreza Khalaji","doi":"10.1002/ccr3.71091","DOIUrl":"10.1002/ccr3.71091","url":null,"abstract":"<p>Heterotopic pancreas (HP)—defined as ectopic pancreatic tissue lacking vascular or ductal connections to the main organ—represents an exceedingly rare anatomical variant in the gallbladder. This developmental anomaly warrants careful clinical attention due to its potential surgical implications. We report a case of a 38-year-old female who presented to the emergency department with progressive abdominal pain, nausea, and vomiting. Ultrasonographic evaluation revealed a solitary 15-mm gallstone without evidence of gallbladder wall inflammation. Following laparoscopic cholecystectomy, histological examination of the 7.5 cm × 3 cm specimen demonstrated acute-on-chronic cholecystitis with localized cholesterolosis. Microscopic evaluation revealed heterotopic pancreatic tissue beneath the gallbladder fundus serosa. The tissue displayed complete pancreatic architecture—including acini, ducts, and islets of Langerhans—without evidence of malignancy or dysplasia. The patient experienced an uncomplicated postoperative course, with complete symptom resolution during follow-up. This case emphasizes the importance of thorough histopathological examination in identifying rare anatomical variants and contributes to the limited literature on gallbladder HP. While typically asymptomatic, recognition of HP remains crucial for appropriate surgical planning and patient management.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12485282/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212011","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
Response to Comment on 26 cm Fall Caught on Video Causing Subdural Hemorrhages and Extensive Retinal Hemorrhages in an 8-Month-Old Infant 对一名8个月大婴儿26厘米跌落导致硬膜下出血和大面积视网膜出血的视频评论的回应。
IF 0.6
Clinical Case Reports Pub Date : 2025-10-01 DOI: 10.1002/ccr3.70702
Chris Brook, Waney Squier, Julie Mack
{"title":"Response to Comment on 26 cm Fall Caught on Video Causing Subdural Hemorrhages and Extensive Retinal Hemorrhages in an 8-Month-Old Infant","authors":"Chris Brook,&nbsp;Waney Squier,&nbsp;Julie Mack","doi":"10.1002/ccr3.70702","DOIUrl":"10.1002/ccr3.70702","url":null,"abstract":"&lt;p&gt;We thank Dr. Shouldice and Dr. Smith for their interest in our case report, “26 cm Fall Caught on Video Causing Subdural Hemorrhages and Extensive Retinal Hemorrhages in an 8-Month-Old Infant” [&lt;span&gt;1&lt;/span&gt;].&lt;/p&gt;&lt;p&gt;In their comment [&lt;span&gt;2&lt;/span&gt;], Shouldice and Smith assert that “existing literature… supports the predominant opinion that subdural hemorrhages and retinal hemorrhages are highly associated with inflicted injury.” However, this literature has been criticized for its poor methodology, including a lack of appropriate reference standards to classify injuries as inflicted, and frequent use of circular reasoning [&lt;span&gt;3-5&lt;/span&gt;]. An alternative interpretation that such findings are markers of the degree of intracranial pathology is supported by the data [&lt;span&gt;4, 6, 7&lt;/span&gt;].&lt;/p&gt;&lt;p&gt;Glutaric aciduria type 1 was excluded due to a normal urine amino acid profile. The full blood count showed a slightly elevated white count (13.9 × 10&lt;sup&gt;9&lt;/sup&gt;/L), normal hemoglobin (105 g/L), and normal platelets (541 × 10&lt;sup&gt;3&lt;/sup&gt;). Basic coagulation studies (PT, INR, APTT) were normal. An extended coagulation profile showed normal thrombin time, fibrinogen, factor XI and VII assays, and a normal factor XII screen. Factor II, VII, and XI levels were elevated. No abnormalities were detected on von Willebrand studies. Platelet function aggregation studies showed high levels, which the hematology team advised were not significant.&lt;/p&gt;&lt;p&gt;While we did not obtain a coronal FLAIR image, we did obtain an axial FLAIR MRI, which clearly demonstrates the subdural collections as bilateral, involving frontal, parietal, occipital, and middle cranial fossa dura, including extending along a portion of the midline dural fold (falx). As noted in the case report, the collections are holohemispheric, involving both cerebral hemispheres reflecting the ability of subdural blood to track widely in the subdural compartment. They do not involve the infratentorial dura.&lt;/p&gt;&lt;p&gt;For additional context, the sagittal T1 MRI image included in the case report clearly delineates the supratentorial subdural collection as distinct from the subarachnoid cerebral spinal fluid (CSF) which is visible as a darker signal dipping in between the brain sulci.&lt;/p&gt;&lt;p&gt;There was no indication of cerebral edema on the CT scan completed on the day of the described event. There was no clinical or radiographic evidence of increased intracranial pressure. The infant continued to experience projectile vomiting for several days and remained in the hospital for 6 days. No intervention was required, as the symptoms resolved during this time.&lt;/p&gt;&lt;p&gt;&lt;i&gt;Long-term follow-up can likewise be informative&lt;/i&gt;. &lt;i&gt;In the months following the injury, what was the child's neurodevelopmental status and follow-up head imaging?&lt;/i&gt;&lt;/p&gt;&lt;p&gt;The child is now 4 years old and continues to develop normally. Follow-up head imaging has not been required.&lt;/p&gt;&lt;p&gt;&lt;b&gt;Chris Brook:&lt;/b&gt; conceptualization, writing – original draft","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12485276/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145212045","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
Bilateral Elastofibroma Dorsi Managed With Single-Stage Resection in the Prone Position: A Case Report 俯卧位单期切除双侧背弹性纤维瘤1例。
IF 0.6
Clinical Case Reports Pub Date : 2025-10-01 DOI: 10.1002/ccr3.71051
Carlos Rafael Luna-Lizárraga, Enrique Berebichez-Fastlicht, Roberto Berebichez-Fridman
{"title":"Bilateral Elastofibroma Dorsi Managed With Single-Stage Resection in the Prone Position: A Case Report","authors":"Carlos Rafael Luna-Lizárraga,&nbsp;Enrique Berebichez-Fastlicht,&nbsp;Roberto Berebichez-Fridman","doi":"10.1002/ccr3.71051","DOIUrl":"10.1002/ccr3.71051","url":null,"abstract":"<p>Elastofibroma dorsi is a rare, benign tumor commonly found at the inferior angle of the scapula in older women. Symptoms include pain and crepitus during shoulder movement. MRI is the preferred diagnostic tool. Surgical resection is recommended for symptomatic cases, with single-stage resection in the prone position being a valid and safe approach.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12485281/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211903","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 Homozygous GFI1B Mutation in Siblings With Thrombocytopenia and Bleeding Tendency 一个新的纯合子GFI1B突变与血小板减少和出血倾向的兄弟姐妹。
IF 0.6
Clinical Case Reports Pub Date : 2025-10-01 DOI: 10.1002/ccr3.71075
Shova Aryal, Surabhi Aryal, Sangit Adhikari, Punam Adhikari
{"title":"A Novel Homozygous GFI1B Mutation in Siblings With Thrombocytopenia and Bleeding Tendency","authors":"Shova Aryal,&nbsp;Surabhi Aryal,&nbsp;Sangit Adhikari,&nbsp;Punam Adhikari","doi":"10.1002/ccr3.71075","DOIUrl":"10.1002/ccr3.71075","url":null,"abstract":"<p>Platelet type bleeding disorder 17 (OMIM #187900) is a type of “gray platelet syndrome” and occurs due to a mutation in the GFI1B gene on chromosome 9q34.13. Patients usually present with a history of easy bleeding tendencies, recurrent epistaxis or gum bleeding, and rarely with severe hemorrhage, and they may often be misdiagnosed. We herein report a novel autosomal recessive bleeding disorder in two sisters of the same family caused by a mutation in GFI1B, where both sisters, 13 and 8 years old, respectively presented with a history of recurrent episodes of epistaxis, firstly misdiagnosed and treated as ITP. Later, the final diagnosis was made with whole genome sequencing. The identification of GFI1B mutations in patients with thrombocytopenia and bleeding disorders highlights the importance of genetic testing in the diagnostic workup of these conditions. The cases reported here presented with mild to moderate thrombocytopenia and were initially misdiagnosed as ITP. Whole exome sequencing has proven to be a valuable tool in identifying mutations, as demonstrated in this case. This case report underscores the significance of evaluating for inherited platelet disorders in instances of recurrent bleeding.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 10","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-10-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12485271/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145211928","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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