Case Reports in Medicine最新文献_第2页

An Unusual Presentation of Cronkhite-Canada Syndrome With Hypothyroidism. 克朗凯特-加拿大综合征伴甲状腺功能减退的不寻常表现。

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Case Reports in Medicine Pub Date : 2025-09-10 eCollection Date: 2025-01-01 DOI: 10.1155/carm/7336583

Carlotta Crisciotti, Alessandra Marchese, Pasquale De Cata, Katerina Vjero, Claudia Vattiato, Vitantonio Caramia, Federico Biagi, Giovanni Arpa

{"title":"An Unusual Presentation of Cronkhite-Canada Syndrome With Hypothyroidism.","authors":"Carlotta Crisciotti, Alessandra Marchese, Pasquale De Cata, Katerina Vjero, Claudia Vattiato, Vitantonio Caramia, Federico Biagi, Giovanni Arpa","doi":"10.1155/carm/7336583","DOIUrl":"10.1155/carm/7336583","url":null,"abstract":"Background: Cronkhite-Canada syndrome (CCS) is a rare, nonhereditary gastrointestinal polyposis characterized by diffuse polyps, hyperpigmentation, onychodystrophy, and alopecia. Hypothyroidism has been infrequently reported in association with CCS. Case Presentation: A Caucasian male in his late 70s presented with dysgeusia, asthenia, and significant weight loss, initially diagnosed with Crohn's disease. Physical examination showed onychodystrophy, hyperpigmentation, and leg edema. Laboratory tests revealed severe hypothyroidism, hypoalbuminemia, and elevated serum IgG-4 levels. Upper and lower endoscopies showed diffuse gastric and colonic polyposis with chronic inflammation, eosinophilic infiltration, and hyperplastic changes. Diagnosis of CCS was confirmed. Treatment included corticosteroids and thyroid hormone replacement. Conclusion: This case highlights CCS diagnostic challenges, particularly when misdiagnosed as inflammatory bowel disease. The coexistence of hypothyroidism and elevated serum IgG-4 levels suggests a possible autoimmune component. Early recognition of this rare syndrome is essential for appropriate management.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"7336583"},"PeriodicalIF":0.7,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12443523/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085173","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 Pulmonary Metastasis of Basal Cell Carcinoma 10 Years After Primary Excision: A Case Report and Literature Review. 原发性基底细胞癌切除后10年延迟肺转移一例报告及文献复习。

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Case Reports in Medicine Pub Date : 2025-09-10 eCollection Date: 2025-01-01 DOI: 10.1155/carm/8239242

Hazhir Moradi, Negar Karavan, Forough Kalantari, Elham Kalantari

{"title":"Delayed Pulmonary Metastasis of Basal Cell Carcinoma 10 Years After Primary Excision: A Case Report and Literature Review.","authors":"Hazhir Moradi, Negar Karavan, Forough Kalantari, Elham Kalantari","doi":"10.1155/carm/8239242","DOIUrl":"10.1155/carm/8239242","url":null,"abstract":"Background: Basal cell carcinoma (BCC) is the most common cutaneous malignancy, characterized by slow progression and a low propensity for metastasis. Metastatic basal cell carcinoma (mBCC) occurs in fewer than 0.1% of the cases, most frequently involving the lungs, lymph nodes, or bones. Although rare, mBCC is associated with poor prognosis and presents unique diagnostic and therapeutic challenges. Case Presentation: We report a 77-year-old male with a remote history of multiple head-and-neck BCCs, including aggressive histologic subtypes (basosquamous and micronodular), treated predominantly with Mohs surgery; the margin status varied across procedures (some tumor free and some positive). Ten years after the initial lesion, the patient developed progressive dyspnea and was found to have bilateral pulmonary nodules on chest CT. PET/CT demonstrated increased FDG uptake, and a CT-guided biopsy of the right lung nodule confirmed mBCC. There was no evidence of local recurrence at the original excision sites. p16/HPV studies were not performed on the prior cutaneous primaries. Conclusion: This case highlights the potential for delayed pulmonary metastasis in BCC, even years after apparently curative treatment. The absence of local recurrence and the bilateral lung involvement suggest hematogenous spread. Clinicians should remain vigilant for metastatic disease in patients with a history of high-risk BCC, particularly when new pulmonary symptoms arise. Imaging and immunohistochemistry are critical for diagnosis, and early detection may improve therapeutic outcomes in this rare and aggressive manifestation. In this patient, the presence of aggressive histologic subtypes and prior positive margins likely increased metastatic risk.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"8239242"},"PeriodicalIF":0.7,"publicationDate":"2025-09-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12443512/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145085165","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

The First Reported Albanian Patient With Fructose-1,6-Bisphosphatase Deficiency: A Rare Disorder of Fructose Metabolism. 首次报道的阿尔巴尼亚患者果糖-1,6-双磷酸酶缺乏症：一种罕见的果糖代谢紊乱。

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Case Reports in Medicine Pub Date : 2025-09-09 eCollection Date: 2025-01-01 DOI: 10.1155/carm/4567735

Paskal Cullufi, Gladiola Hoxha, Inva Gjeta, Ermira Dervishi, Virtut Velmishi, Eda Jazexhiu-Postoli, Ermira Kola, Sonila Tomori, Durim Sala, Mirela Tabaku

{"title":"The First Reported Albanian Patient With Fructose-1,6-Bisphosphatase Deficiency: A Rare Disorder of Fructose Metabolism.","authors":"Paskal Cullufi, Gladiola Hoxha, Inva Gjeta, Ermira Dervishi, Virtut Velmishi, Eda Jazexhiu-Postoli, Ermira Kola, Sonila Tomori, Durim Sala, Mirela Tabaku","doi":"10.1155/carm/4567735","DOIUrl":"10.1155/carm/4567735","url":null,"abstract":"Background: Fructose-1,6-bisphosphatase (FBPase) deficiency is a rare autosomal recessive disorder of gluconeogenesis caused by biallelic pathogenic variants in the FBP1 gene. It presents with episodic hypoglycemia, lactic acidosis, and ketone body abnormalities, particularly during catabolic stress, but often mimics more common metabolic disorders, leading to diagnostic delays. Case Presentation: We describe the first genetically confirmed Albanian case of FBPase deficiency in a 3-year-old girl, born to nonsanguineous parents. The patient presented with recurrent episodes of vomiting, hypoglycemia, and metabolic decompensation since infancy. At her most severe presentation, she was admitted in a subcomatose state with profound hypoglycemia (35 mg/dL) and lactic acidosis (pH 6.9) without ketonuria. Whole exome sequencing identified a homozygous pathogenic FBP1 variant NM_000507.3(FBP1): c.472C > T; p. (Arg158Trp), a recurrent missense mutation associated with significant phenotypic variability. Parental testing confirmed autosomal recessive inheritance. Management and Outcome: Emergency management included intravenous dextrose and bicarbonate for metabolic acidosis, followed by nutritional interventions. The patient was advised to avoid fasting for more than 8 h and to limit fructose intake. No further metabolic crises were observed after these interventions. Conclusion: This case highlights the clinical and genetic complexity of FBPase deficiency and underlines the importance of genomic diagnostics in children with unexplained hypoglycemia and metabolic acidosis. Early diagnosis allows effective dietary management and prevents recurrent life-threatening episodes. As the first reported case in Albania, it contributes to the growing recognition of FBPase deficiency as an underdiagnosed but treatable metabolic disorder.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"4567735"},"PeriodicalIF":0.7,"publicationDate":"2025-09-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12440639/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145079616","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

Pulmonary Aspergillosis Mimicking Metastatic RCC: A Postnephrectomy Diagnostic Consideration. 肺曲霉病模拟转移性肾细胞癌：肾切除术后的诊断考虑。

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Case Reports in Medicine Pub Date : 2025-09-05 eCollection Date: 2025-01-01 DOI: 10.1155/carm/9920083

Supriya Peshin, Ramsha Sohail, Faizan Bashir, Donovan Mabe

{"title":"Pulmonary Aspergillosis Mimicking Metastatic RCC: A Postnephrectomy Diagnostic Consideration.","authors":"Supriya Peshin, Ramsha Sohail, Faizan Bashir, Donovan Mabe","doi":"10.1155/carm/9920083","DOIUrl":"10.1155/carm/9920083","url":null,"abstract":"Survivors of renal cell carcinoma (RCC), especially following nephrectomy, require long follow-up for recurrence or systemic complications. While those with a history of RCC develop pulmonary nodules often with concern for metastasis, we must consider infectious diseases, especially in patients with environmental exposures and immune alterations related to metabolic changes secondary to nephrectomy. We report a 49-year-old male with a history of RCC status postnephrectomy, history of long-term smoking, and history of significant coal dust exposure, who developed progressive pulmonary nodules. Although initially suspected to be metastatic RCC (mRCC), serial imaging demonstrated nodule enlargement without metabolic activity on PET scan, requiring further evaluation. Given the persistent respiratory symptoms, he underwent bronchoscopy with microbiologic analysis which identified Aspergillus fumigates and was ultimately diagnosed with chronic pulmonary aspergillosis. Our patient was successfully treated with voriconazole and over time demonstrated significant clinical improvement. In this case, we have made the observation of the diagnostic dilemma presented by the pulmonary nodules in RCC survivors and the importance of a broad differential to avoid misdiagnosis. Immune changes following nephrectomy, possible accompanying chronic kidney disease (CKD), or prolonged oncologic surveillance could place patients at risk for opportunistic infections. In order to ensure timely detection and treatment of infections that may mimic tumor progression, clinicians treating RCC survivors should integrate microbiologic diagnostics into routine pulmonary evaluations.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"9920083"},"PeriodicalIF":0.7,"publicationDate":"2025-09-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12431814/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145063482","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

Cytomegalovirus Retinitis Following Daratumumab for Multiple Myeloma: A Case Report and Literature Review. 达拉单抗治疗多发性骨髓瘤后巨细胞病毒视网膜炎1例报告及文献复习

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Case Reports in Medicine Pub Date : 2025-09-04 eCollection Date: 2025-01-01 DOI: 10.1155/carm/8861458

Asuka Kono, Kana Bando, Atsushi Takahata, Shigeo Toyota

引用次数: 0

Complete Duplex Right Kidney With Upper Moiety Hydronephrosis due to Ureteral Stone: A Rare Case. 输尿管结石致完全双肾右肾上段积水1例。

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Case Reports in Medicine Pub Date : 2025-09-02 eCollection Date: 2025-01-01 DOI: 10.1155/carm/3800537

I B G A Mahesvara, I W Suarsana, I B O W Putra

引用次数: 0

Orbital and Maxillofacial Soft Tissue Infection Caused by Methicillin-Resistant Staphylococcus aureus With Diabetic Ketoacidosis in a Young Man: A Case Report. 耐甲氧西林金黄色葡萄球菌所致眼眶及颌面软组织感染合并糖尿病酮症酸中毒1例。

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Case Reports in Medicine Pub Date : 2025-09-01 eCollection Date: 2025-01-01 DOI: 10.1155/carm/9977753

Jinhui Yao, Yujing Zhan, Chuanying Zhu, Xiaojuan Wang, Hongmei Kang, Ting Zhao

引用次数: 0

Bronchoalveolar Lavages Combined With Glucocorticoids in Management of Acute Exogenous Lipoid Pneumonia: 3 Case Reports. 支气管肺泡灌洗联合糖皮质激素治疗急性外源性脂质性肺炎3例报告

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Case Reports in Medicine Pub Date : 2025-08-30 eCollection Date: 2025-01-01 DOI: 10.1155/carm/4165969

Xue Huang, Mingjun Wu, Qingliang Xue, Guowei Yu

引用次数: 0

A Case of Ectopic Spleen Transplanted Into the Sigmoid Colon and Pelvic Peritoneum. 异位脾移植至乙状结肠及盆腔腹膜1例。

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Case Reports in Medicine Pub Date : 2025-08-29 eCollection Date: 2025-01-01 DOI: 10.1155/carm/4875687

Ming Liu, Miao Zhang, Jingyu Xiang, Yifang Zhang, Jian Liu

{"title":"A Case of Ectopic Spleen Transplanted Into the Sigmoid Colon and Pelvic Peritoneum.","authors":"Ming Liu, Miao Zhang, Jingyu Xiang, Yifang Zhang, Jian Liu","doi":"10.1155/carm/4875687","DOIUrl":"10.1155/carm/4875687","url":null,"abstract":"Ectopic spleen (ES) is a rare complication of autologous transplant following spleen injury. Autopsy studies suggest that the true incidence rate could be as high as 67%, though only 5%-10% of patients require clinical intervention. This case report describes a highly cautionary case of ES, with an extremely long latent period. The patient presented with dull lower abdominal pain 24 years after undergoing a splenectomy. An ultrasound examination revealed a round-shaped, solid mass measuring 1.6 × 2.5 cm adjacent to the right ovary. Following laparoscopic surgery, a 2.5 × 1.5 cm mass on the surface of the sigmoid colon and a 1.0 cm dark red nodule on the pelvic floor were completely removed. Pathological and immunohistochemical examinations confirmed that both lesions were splenic tissue. This case highlights the fact that the latent period of ES can last for decades. For patients with a history of splenectomy, any new pelvic or abdominal masses should be included in the differential diagnosis of ES. We urge the implementation of standardized long-term follow-up mechanisms combined with multimodal imaging techniques for a comprehensive assessment in order to effectively avoid misdiagnosis and overtreatment.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"4875687"},"PeriodicalIF":0.7,"publicationDate":"2025-08-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12413271/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145013989","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

Late-Induced Autoimmune Disorders Post-COVID-19 Vaccination/Infection: Case Report From Iran. covid -19疫苗接种/感染后迟发性自身免疫性疾病：伊朗病例报告

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Case Reports in Medicine Pub Date : 2025-08-28 eCollection Date: 2025-01-01 DOI: 10.1155/carm/8815875

Mona Sadat Larijani, Anahita Bavand, Fatemeh Ashrafian, Ladan Moradi, Amitis Ramezani

引用次数: 0