Clinical Case Reports最新文献

{"title":"Joubert Syndrome: A Rare Case of Two Sudanese Sisters With Neurodevelopmental Delays and Diagnostic Challenges","authors":"Ahmed Alshafei Elmahi Ahmed,&nbsp;Mehad Mortada BadrAlden Ahmed,&nbsp;Aisha Gameraldeen Abdalrhim Ibrahim,&nbsp;Arafa Mubarak Abotalib Aref,&nbsp;Thowiba Mohammed Abdalla Saidahmed,&nbsp;Osman Elshazali Osman Abd Elaziz,&nbsp;Zahra Abdalla Ahmed Neel,&nbsp;Mohammed Musa Abozaid Alkarar,&nbsp;Tarig Mohamed Nourallah Altegani,&nbsp;Amjed Abdu Ali Mohammed,&nbsp;Mohammed Hammad Jaber Amin","doi":"10.1002/ccr3.70733","DOIUrl":"https://doi.org/10.1002/ccr3.70733","url":null,"abstract":"<p>Joubert Syndrome's rarity and diagnostic complexity, especially in Sudan, pose significant challenges in low-resource settings. Sibling cases with neurodevelopmental delays and MRI-confirmed molar tooth sign highlight the urgent need for heightened clinical suspicion, accessible neuroimaging, and genetic counseling to address underdiagnosis in underrepresented populations.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 8","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70733","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144740444","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}

{"title":"A Rare Cutaneous Tumor With Unusual Dermoscopic Features","authors":"Antonio Di Guardo,&nbsp;Luca Gargano,&nbsp;Andrea Ascione,&nbsp;Domenico Giordano,&nbsp;Flavia Persechino,&nbsp;Severino Persechino","doi":"10.1002/ccr3.70598","DOIUrl":"https://doi.org/10.1002/ccr3.70598","url":null,"abstract":"<p>Although subtle, dermoscopic clues such as milia-like cysts, white structureless areas, and peripheral vessels may suggest a biphasic adnexal tumor. Histopathology remains essential for definitive diagnosis. Complete excision with clear margins is typically curative. Rare tumors like CS may benefit from AI-driven tools to improve preoperative recognition.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 8","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70598","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144740437","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}

{"title":"AI-Assisted Detection of Intracellular Bacteria in Peripheral Blood Granulocytes: A Case Report","authors":"Junma You,&nbsp;Hongsheng Zhang,&nbsp;Dan Zhou","doi":"10.1002/ccr3.70631","DOIUrl":"https://doi.org/10.1002/ccr3.70631","url":null,"abstract":"<p>Identifying intracellular bacteria in peripheral blood smears is of utmost importance for diagnosing bacteremia in patients. However, during the initial stages, manual microscopic examination of peripheral blood smears faces significant challenges in detecting these intracellular bacteria. Currently, the application of artificial intelligence (AI)-enabled slide scanners has emerged as a transformative technology. By leveraging this advanced technology, the detection rate of this critical positive indicator can be significantly improved. This advancement is vital for the early treatment and prognosis of bacteremia patients and will notably optimize their clinical management.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 8","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70631","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144740108","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}

{"title":"Myelodysplastic Syndrome in a Patient With Cronkhite-Canada Syndrome","authors":"Kevin G. Shim,&nbsp;Kevork Khadarian,&nbsp;Jewel Samadder,&nbsp;Jiehao Zhou,&nbsp;Cecilia Arana Yi","doi":"10.1002/ccr3.70602","DOIUrl":"https://doi.org/10.1002/ccr3.70602","url":null,"abstract":"<p>Cronkhite-Canada Syndrome (CCS) is a rare non-hereditary gastroenterological polyposis syndrome without a clear etiology. Myelodysplastic syndromes (MDS) are clonal hematological disorders. Immune dysregulation has been posited as a contributor to the development of both. A 70-year-old man developed chronic diarrhea, dysgeusia, and onycholysis. Endoscopic evaluation and testing to exclude hereditary polyposis syndromes resulted in a diagnosis of CCS. Approximately 1 year later, he was noted to have persistent anemia, which was ultimately diagnosed as MDS. He was evaluated with a myeloid disorder next-generation sequencing panel and found to have mutations in <i>IDH2</i>, <i>SRSF2</i>, and <i>JAK2</i>. This is the second reported case characterizing concomitant MDS and CCS. This is the first case to report the development of MDS after the diagnosis and treatment of CCS. A successful management strategy for both disorders is outlined within this case report.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 8","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70602","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144740439","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}

{"title":"A Multimodal Approach to the Early Treatment of a Facial Scar: A Case Report","authors":"Jennifer Akl,&nbsp;Hamad El Hajj,&nbsp;Dima Jeha,&nbsp;Maya Habre","doi":"10.1002/ccr3.70719","DOIUrl":"https://doi.org/10.1002/ccr3.70719","url":null,"abstract":"<p>Facial scarring is associated with considerable psychosocial distress and can adversely affect overall quality of life. The combination of intralesional botulinum toxin injection and laser treatments in the early stage of wound healing markedly enhances scar appearance and improves cosmetic and psychological outcomes.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 8","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70719","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144740441","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}

{"title":"Female Urethral Adenocarcinoma Posing a Diagnostic Challenge","authors":"Omar Darboe,&nbsp;Bartholomeo Nicholaus Ngowi,&nbsp;Gideon Mwasakyalo,&nbsp;Christine Mwakio,&nbsp;Rosemary Wangari Kamau,&nbsp;Adan S. Bashir,&nbsp;Waithera David,&nbsp;Paul Juma Irungu","doi":"10.1002/ccr3.70716","DOIUrl":"https://doi.org/10.1002/ccr3.70716","url":null,"abstract":"<p>Generally, urethral malignancies are uncommon urological tumors that are more frequent in women than in men. The etiology of female urethral adenocarcinoma is yet unknown. Recurrent UTIs and urethral diverticula are two common risk factors linked to it. Clinical presentations can differ and are not always specific. A complete history and physical examination are part of management; urethrocystoscopy with urethral biopsy is used for diagnosis; investigations such as magnetic resonance imaging or abdominal computed tomography scans are used for staging; and treatment options include monotherapy and multimodal therapy. A 53-year-old female who presented with a 9-month history of lower urinary tract symptoms characterized by a burning sensation when passing urine, increased urinary frequency, and a feeling of incomplete bladder emptying associated with a feeling of a vaginal mass. A fixed fungating mass at the external urethral orifice was seen. Pelvic magnetic resonance imaging reported a retropubic urethral mass with bilateral inguinal lymph nodes. She underwent urethrocystoscopy with multiple urethral biopsies taken, and the specimen was sent for histopathology, which confirmed a well-differentiated urethral adenocarcinoma with mucin production. She was treated with chemoradiotherapy as per multidisciplinary team (MDT) meeting recommendations. She developed symptoms of radiation proctitis, which were treated with argon plasma coagulation. She has since been on follow-up at our oncology clinic, and a subsequent positron emission tomography CT scan reported no tumor recurrence or metastasis. She is currently doing well with no recurrence of symptoms. Although female urethral adenocarcinoma is uncommon, it requires comprehensive investigation when it is suspected, particularly in women who have nonspecific or recurrent lower urinary tract symptoms. Management should involve a MDT approach where available. Depending on the disease's stage and location, treatment options may include surgery, nonsurgical options such as radiotherapy and chemotherapy, or a combination. Patients should be monitored for any signs of recurrence of the illness. A better prognosis is said to exist for distal urethral cancers that are localized.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 8","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70716","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144740423","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}

{"title":"Primary Isolated Interventricular Hydatid Cyst With Left Ventricular Vegetation Presents With Neurological Manifestations: A Case Report","authors":"Albaraa Bara,&nbsp;Sabah Refaieh,&nbsp;Jia Batha,&nbsp;Meree Daoud,&nbsp;Adeeb Makhlouf","doi":"10.1002/ccr3.70687","DOIUrl":"https://doi.org/10.1002/ccr3.70687","url":null,"abstract":"<p>In areas where hydatid disease is endemic, hydatid cyst embolism should be recognized as a rare but important differential diagnosis in young patients presenting with stroke. Awareness of this potential etiology is essential for early detection, timely intervention, and prevention of severe neurological complications. Cardiac hydatid cysts are infrequent, representing 0.5%–2% of all hydatid disease cases. The left ventricular wall is the most common location for cardiac disease, while interventricular septum involvement is much rarer. Echocardiography is favorable as a non-invasive diagnostic tool with high sensitivity and low cost. Surgical removal with open heart surgery is the treatment of choice for such cysts. Here, we report a case of a hydatid cyst in a 17-year-old patient in the interventricular septum complicated with cerebral embolization. A 17-year-old male presented with a month-long history of right-sided muscle weakness and slurred speech. Neurological examination revealed weak motor power (3/5) in the right upper and lower extremities with hypertonia, hyperreflexia, Babinski sign, and expressive aphasia. Brain MRI showed multiple lesions, including an irregularly shaped area in the left frontal lobe and two lesions in the left occipital-parietal region. A CT neck of the neck, chest, abdomen, and pelvis (NCAP) showed the presence of a cystic heterogeneous formation located at the level of the cardiac interventricular septum. Our decision was surgical removal of the cyst with open-heart surgery. The cystic germinal layer was completely resected, and the cavity was marsupialized. The case reported here is of particular interest not only because a hydatid cyst is located in the interventricular septum but also because the giant hydatid cyst was detected by neurological symptoms without any previously noted cardiac manifestations. Embolism of hydatid cysts should be considered in the differential diagnosis of stroke in young patients, especially in endemic areas.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 8","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70687","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144740443","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}

{"title":"Derivative Complex Small Supernumerary Marker Chromosomes (sSMC) Involving Chromosomes 2 and 15—A Novel Report","authors":"Yazeed Alayed,&nbsp;Aziza Mushiba,&nbsp;Soha Tashkandi,&nbsp;Yahya Almashham,&nbsp;Khelad Alsaidi,&nbsp;Abdulrazaq Albohigan,&nbsp;Amer Jamhawi,&nbsp;Mohammad Alkheilewi,&nbsp;Maryam Alotaibi","doi":"10.1002/ccr3.70592","DOIUrl":"https://doi.org/10.1002/ccr3.70592","url":null,"abstract":"<div>\u0000 \u0000 \u0000 <section>\u0000 \u0000 <p>Small supernumerary marker chromosomes (sSMC) constitute a rare group of structural chromosomal abnormalities characterized by additional genetic material that cannot be identified by conventional banding cytogenetics. The incidence of sSMC is extremely rare, and most are expected to have no clinical phenotypic abnormalities. Advanced cytogenetic modalities are crucial for sSMCs identification, characterization, and analysis of chromosomal structure. An 8-day-old neonate born to a G2P2 mother with gestational diabetes and a history of infertility was admitted for respiratory distress. Clinical evaluations included chromosomal microarray, karyotyping, fluorescence in situ hybridization (FISH), brain magnetic resonance imaging (MRI), and cardiac computed tomography (CT). Initial echocardiography revealed atrial and ventricular septal defects, patent ductus arteriosus, and left pulmonary artery stenosis. Brain MRI showed trigonocephaly, ventriculomegaly, corpus callosum dysgenesis, and gray matter heterotopia. Chromosomal microarray identified proximal duplication of 15q and duplication of 2p. Despite intensive care and surgical interventions, the infant faced recurrent respiratory complications and failed extubation attempts. SMC involving chromosomes 15 and 2 presenting with multiple congenital anomalies delineate the genotype–phenotype correlation roadmap. Rapid and immense development in cytogenetics may expand further correlation strategies in the future.</p>\u0000 </section>\u0000 </div>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 8","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70592","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144740438","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}

{"title":"A Rare Case of Dextrocardia With Atrioventricular Septal Defect and Situs Inversus in an 8-Month-Old Infant Complicated by Severe Acute Malnutrition","authors":"Michael Tesfaye Kassa,&nbsp;Nuru Mohamed Ahmed,&nbsp;Mohamed Abdirahman Shukri,&nbsp;Fatumo Mohamed Abdikadir","doi":"10.1002/ccr3.70604","DOIUrl":"https://doi.org/10.1002/ccr3.70604","url":null,"abstract":"<p>The key clinical message in this case report highlights the rare coexistence of situs inversus totalis, dextrocardia, atrioventricular septal defect, and severe acute malnutrition in an Ethiopian infant. It underscores the need for heightened awareness, timely diagnosis, and integrated management strategies for such complex congenital and nutritional disorders and emphasizes the need for early surgical referral in resource-limited settings, as delayed intervention worsens outcomes.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 8","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70604","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144740440","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}

{"title":"Allograft Injury Following Nandrolone and High-Dose Dietary Supplements Use in a Liver Transplant Recipient: A Case Report","authors":"Mahnaz Sadat Hosseini,&nbsp;Simin Dashti-Khavidaki,&nbsp;Monavar Talebian,&nbsp;Mohsen Nasiri-Toosi,&nbsp;Masoomeh Safaei","doi":"10.1002/ccr3.70721","DOIUrl":"https://doi.org/10.1002/ccr3.70721","url":null,"abstract":"<p>This case report highlights the importance of meticulous monitoring of all medications and dietary supplements used by solid organ transplant recipients. Although the recommended daily allowances of vitamins, minerals, and herbs are generally considered safe, combining various supplement formulations can result in excessive intake, thereby increasing the risk of allograft injury in this patient population.</p>","PeriodicalId":10327,"journal":{"name":"Clinical Case Reports","volume":"13 8","pages":""},"PeriodicalIF":0.6,"publicationDate":"2025-07-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://onlinelibrary.wiley.com/doi/epdf/10.1002/ccr3.70721","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144725532","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}