Clinical Medicine Insights. Case Reports最新文献

{"title":"Unique Dermatological and Systemic Manifestations in a Classic Pediatric Case of Kindler Syndrome: A Case Report and Literature Review.","authors":"Muhammad Aamir, Fahad Faizullah, Malik W Z Khan, Touba Azeem, Muhammad Awais Khan","doi":"10.1177/11795476251342637","DOIUrl":"https://doi.org/10.1177/11795476251342637","url":null,"abstract":"<p><p>Kindler Syndrome (KS) is a rare, autosomal recessive genodermatosis caused by mutations in the FERMT1 gene, leading to skin fragility, blistering, photosensitivity, and progressive poikiloderma. We present a unique case of KS in a 6-year-old boy born to consanguineous parents, exhibiting uncommon dermatological, and systemic features. The patient developed multiple erythematous plaques, hemorrhagic crusting, and purulent discharge after birth, with a family history suggesting genetic predisposition. Uniquely, the patient presented with well-demarcated hyperpigmented macules on the abdomen, a feature rarely seen in KS, which adds to the phenotypic diversity of the condition. Additionally, the patient had extensive lanugo hair growth, nail dystrophy, and gingivitis, typical of KS, but without urinary or mucosal involvement, a departure from more classic presentations. The patient also presented with glucose intolerance, indicated by elevated glucose levels of 222 mg/dL, likely due to infection-induced metabolic dysregulation, which normalized after treatment. The differential diagnosis initially considered porphyria cutanea tarda (PCT) due to overlapping features like photosensitivity and skin fragility. However, laboratory findings, including normal liver function and the absence of specific PCT markers, effectively excluded PCT. Microbiological swabs from purulent discharge identified Staphylococcus aureus, which was sensitive to the prescribed antibiotics. Management focused on symptomatic relief with antibiotics, supportive care, and iron supplementation to address anemia caused by chronic skin erosions. The case highlights diagnostic challenges in resource-limited settings where genetic testing was unavailable. It underscores the need for heightened awareness of atypical KS manifestations, the importance of clinical evaluation and genetic counseling, and contributes to the expanding knowledge of KS, particularly in populations with consanguineous marriages.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251342637"},"PeriodicalIF":0.8,"publicationDate":"2025-05-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12117226/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144172856","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 Report of Pancreatic Hydatid Cyst From Syria: A Diagnostic and Therapeutic Challenge.","authors":"Sliman Marina, Sham Zoukar, Mais Basel Alreem Mohaisen, Miriam Laflouf, Mahmoud Alhamadeh Alswij, Ali Al Wynse, Alhamza Khalaf Alali, Mouhammed Sleiay","doi":"10.1177/11795476251342378","DOIUrl":"10.1177/11795476251342378","url":null,"abstract":"<p><strong>Introduction and significance: </strong>Hydatid disease, primarily caused by the parasite <i>Echinococcus granulosus</i>, commonly affects the liver and lungs. However, it can also involve other organs, including the pancreas. Pancreatic hydatid cysts are rare, constituting less than 2% of all hydatid cases. Their infrequent occurrence and atypical presentation often pose diagnostic and therapeutic challenges, especially in non-endemic regions.</p><p><strong>Case presentation: </strong>A 42-year-old man with a cystic lesion in his pancreatic tail who had no notable medical history was seen. The diagnosis of a pancreatic hydatid cyst was validated by serological testing and diagnostic imaging techniques.</p><p><strong>Clinical discussion: </strong>Due to their uncommon nature, the differential diagnosis of pancreatic hydatid cysts can be challenging. Imaging modalities such as computed tomography (CT), magnetic resonance imaging (MRI), and ultrasound are important for identifying characteristic features. Serological testing further aids in confirming the diagnosis. Treatment typically involves a combination of medical and surgical approaches. Antiparasitic drugs, such as albendazole or mebendazole, are administered to kill the parasite. Surgical intervention is necessary to remove the cyst and reduce the chance of recurrence and complications.</p><p><strong>Conclusion: </strong>This instance highlights the significance it is to take hydatid disease into consideration when making a differential diagnosis for pancreatic cystic lesions, particularly in people from endemic regions. For the optimal possible patient outcomes and avoiding of complications, early diagnosis and effective treatment are important.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251342378"},"PeriodicalIF":0.8,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12107011/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157120","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":"Reversal of Chorea Hyperglycemia Basal Ganglia Syndrome With Glycemic Control: A Case Report.","authors":"Sumanth Gundraju, Jaideep Menda, Tarun Kumar Suvvari, Anupama Kumudavalli Pindi, Prudhvi Kumar Davala, Tejinder Singh, Vimal Thomas","doi":"10.1177/11795476251345877","DOIUrl":"10.1177/11795476251345877","url":null,"abstract":"<p><p>Chorea Hyperglycemia Basal Ganglia Syndrome (CHBG) is an uncommon neurological complication arising in diabetic patients with severe, non-ketotic hyperglycemia. This case report describes a 50-year-old woman presenting with new-onset, choreiform movements in her extremities. Initial workup revealed uncontrolled diabetes (plasma glucose 410 mg/dl, HbA1c 11.2%) with negative serum ketones. Brain MRI findings supported the diagnosis, demonstrating characteristic T1 hyperintensity in the right basal ganglia. Implementation of gradual glycemic control over 48 hours led to significant improvement of her symptoms. This case emphasizes the importance of considering CHBG in the differential diagnosis of movement disorders in patients with uncontrolled diabetes. Early recognition and prompt glycemic management can lead to complete resolution of symptoms, highlighting the crucial role of maintaining proper blood sugar control in diabetic patients.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251345877"},"PeriodicalIF":0.8,"publicationDate":"2025-05-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12107003/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144157122","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":"Intradural-Intramedullary Spinal Teratoma with Syrinx Formation: A Case Report.","authors":"Munna William, Shahroze Ahmed, Mudasira Habib, Noor Fatima, Ayesha Jamal, Abdul Sattar Anjum","doi":"10.1177/11795476251341070","DOIUrl":"https://doi.org/10.1177/11795476251341070","url":null,"abstract":"<p><p>Spinal teratomas, though rare among spinal tumors, should be considered in the differential diagnosis of intradural-intramedullary lesions, especially in children presenting with urinary and fecal symptoms. Comprehensive imaging evaluation, including CT and MRI with characteristic findings such as cystic and solid components, the presence of fatty tissue, and associated spinal cord abnormalities like syrinx formation, can aid in early diagnosis. Surgical resection remains the mainstay of treatment, and prompt intervention is crucial to prevent progression and alleviate symptoms in affected patients. Here, we discuss a case of an intradural-intramedullary teratoma in a 6-year-old child who was timely diagnosed using CT and MRI and treated with total surgical resection.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251341070"},"PeriodicalIF":0.8,"publicationDate":"2025-05-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12078952/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144076365","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 Hypoparathyroidism With Basal Ganglia Calcification in a 17-year-old Epileptic Patient Presenting With Falciparum Malaria, Thrombocytopenia and Anemia.","authors":"Zauha Fawad Memon, Sibgha Fawad Memon, Matia Fawad Memon, Hussain Haider Shah, Tooba Hussain","doi":"10.1177/11795476251332438","DOIUrl":"https://doi.org/10.1177/11795476251332438","url":null,"abstract":"<p><p>Fahr Syndrome or Strio-Pallido Dentate Calcinosis is a rare neurological syndrome characterized by deposition of calcium in basal ganglia, which usually occurs secondary to other underlying endocrinological disorders like hypo/hyper-parathyroidism. Symptoms vary greatly and may range from psychiatric ones like confusion and hallucination to neurological like Tremors, Rigidity, with seizures being the rarest manifestation. Laboratory tests and brain imaging play a crucial role in establishing the diagnosis, while treatment primarily focuses on managing symptoms. Here, we report a case of a 17-year-old female diagnosed with Fahr's syndrome secondary to hypo-parathyroidism, onset of the disease at such young age coupled with uncommon presentation of fits makes this case rather remarkable.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251332438"},"PeriodicalIF":0.8,"publicationDate":"2025-04-30","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12044265/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143981139","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":"Periodontal Disease and Age-Related Maculopathy: A Case Report.","authors":"Francesco Mattia Ceruso, Stephany Gabriela Zambrano Leon, Luca Fiorillo, Gabriele Cervino, Marco Cicciù, Artak Heboyan, Francesco Pernice, Silvio Meloni, Marco Tallarico","doi":"10.1177/11795476251333251","DOIUrl":"https://doi.org/10.1177/11795476251333251","url":null,"abstract":"<p><p>Age-related macular degeneration (AMD) is a leading cause of significant vision impairment in individuals aged 50 and older, primarily impacting central vision. This study seeks to investigate potential associations between periodontal disease and age-related maculopathy in the analyzed clinical case. A male subject of 66 years old, with age-related degenerative maculopathy and severe periodontal disease, was evaluated and treated. After an initial phase of non-surgical causal periodontal therapy, the periodontal indices were re-evaluated. In addition, the extraction of hopeless teeth replaced by dental implants was performed. A retinal topography was used to assess possible regression of the pathology, and proper anti-VEGF therapy was administered. The results showed a regression of periodontal disease and an improvement of the degenerative maculopathy. These preliminary results, even if encouraging, should be supported by larger prospective trials.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251333251"},"PeriodicalIF":0.8,"publicationDate":"2025-04-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12044269/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143967946","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":"Spontaneous Retropharyngeal and Cervical Hematoma: A Case Report.","authors":"Hatim Bensouda Korachi, Safa Darouich, Said Anajar, Khalid Snoussi, Mustapha Essaadi, Amal Hajjij","doi":"10.1177/11795476251337223","DOIUrl":"https://doi.org/10.1177/11795476251337223","url":null,"abstract":"<p><strong>Background: </strong>Spontaneous Retropharyngeal Hematoma and cervical hematoma are rare conditions characterized by the accumulation of blood in the retropharyngeal and cervical region and poses a potential life-threatening risk. This complication can occur unexpectedly and without apparent trauma, particularly in patients on vitamin K antagonists.</p><p><strong>Case presentation: </strong>A 60-year-old man presented to the emergency with acute dysphagia, dysphonia and a right-sided neck ecchymosis. The patient had been on vitamin K antagonists for 7 years following a left intraventricular thrombus. Blood tests revealed an International Normalized Ratio of 7. The diagnosis of Spontaneous Retropharyngeal Hematoma was suspected given the absence of an identified cause and was confirmed by contrast-enhanced computed tomography. The hematoma was attributed to the patient's long-term use of vitamin K antagonists, which predisposed him to spontaneous bleeding. Treatment involved the administration of vitamin K but the patient ultimately passed as a result of respiratory arrest.</p><p><strong>Conclusion: </strong>Spontaneous Retropharyngeal Hematoma due to VKA-related incidents is a rare but significant complication to consider in patients undergoing anticoagulant therapy. Awareness among healthcare professionals is crucial to ensure early recognition and appropriate management.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251337223"},"PeriodicalIF":0.8,"publicationDate":"2025-04-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12038189/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143987740","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":"Chronic Rib Osteomyelitis in a Young Adult Female: Diagnostic Challenges and Implications of a Rare Case in a Resource-Limited Setting.","authors":"Bikash Pandey, Pujan Pant, Aayush Bist, Nishant Pandey","doi":"10.1177/11795476251333238","DOIUrl":"https://doi.org/10.1177/11795476251333238","url":null,"abstract":"<p><p>This case report presents a rare instance of chronic rib osteomyelitis in a 23-year-old female from Darchula, an underserved rural area in Nepal. Rib osteomyelitis is uncommon and often diagnosed late due to its subtle presentation. The patient initially presented at a primary care center with a 2-week history of a protruding bony mass in the right upper back, accompanied by foul-smelling discharge and low-grade fever. She was referred to a tertiary hospital, where a CT scan, surgical excision, and biopsy confirmed chronic rib osteomyelitis. This case highlights the diagnostic challenges of rare conditions in rural settings and emphasizes the essential role of community-based healthcare in early identification and referral. It underscores the need for accessible diagnostic facilities, community health education, and a multidisciplinary approach to support patients in resource-limited environments.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251333238"},"PeriodicalIF":0.8,"publicationDate":"2025-04-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12033584/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143966674","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":"Atypical Presentation of Spontaneous Bilateral Internal Carotid Artery Dissection Leading to Stroke: A Case Report.","authors":"Bao Liao, Qin Yang, Dengxing Li, Chai Theam Ooi","doi":"10.1177/11795476251332440","DOIUrl":"10.1177/11795476251332440","url":null,"abstract":"<p><p>A case of spontaneous bilateral internal carotid artery dissection (ICAD) in a 36-year-old male, potentially linked to COVID-19, is reported. Initially presenting with excessive daytime sleepiness, an atypical symptom for ICAD, the patient lacked focal neurologic deficits. Diagnostic evaluation revealed severe stenosis and dissecting aneurysms in both carotid arteries. Treatment included anticoagulation, corticosteroid therapy, and subsequent endovascular stent placement. This case underscores the importance of considering ICAD as a potential complication of COVID-19, especially in patients with atypical symptoms. Further research is needed to understand the underlying mechanisms and optimize treatment strategies.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476251332440"},"PeriodicalIF":0.8,"publicationDate":"2025-04-04","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11970067/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143794722","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":"Bilateral Renal Infarction, a Rare Consequence of Blunt Renal Artery Injury: A Case Report.","authors":"Ali Tavoosian, Amirreza Shamshirgaran, Seyed Mohammad Kazem Aghamir","doi":"10.1177/11795476241297632","DOIUrl":"10.1177/11795476241297632","url":null,"abstract":"<p><strong>Background: </strong>Renal infarction is an uncommon complication of Blunt renal artery injury (BRAI) following abdominal trauma. Diagnosis of infarction is difficult and mostly delayed due to non-specific symptoms. Early diagnosis can lead to appropriate and effective treatment, which prevents further complication.</p><p><strong>Case presentation: </strong>We report a case of 21-year-old man falling from a height of 9 m. A contrast-enhanced CT scan in the nephrogram phase showed no evidence of absorption in the right kidney and significantly decreased absorption in the left kidney. The pyelogram phase showed no secretion in the right kidney and decreased secretion in the left kidney suggesting segmental renal infarction. Subsequently, heparin infusion was initiated immediately. A follow-up contrast- enhanced abdominopelvic CT scan was performed after 1 month and showed no sign of infarction, and all laboratory tests were normal.</p><p><strong>Conclusion: </strong>Contrast-enhanced abdominopelvic CT scan helps physicians diagnose the renal infarction immediately and start appropriate treatment. Treatment can vary from aggressive surgical procedures to observation and supportive care.</p>","PeriodicalId":10357,"journal":{"name":"Clinical Medicine Insights. Case Reports","volume":"18 ","pages":"11795476241297632"},"PeriodicalIF":0.8,"publicationDate":"2025-03-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC11960154/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143763152","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}