Case Reports in Medicine最新文献

Autosomal Dominant Calpainopathy in a Diabetic Patient Complicated by Functional Gitelman Syndrome. 常染色体显性calpain病合并功能性Gitelman综合征1例。

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Case Reports in Medicine Pub Date : 2025-06-05 eCollection Date: 2025-01-01 DOI: 10.1155/carm/4210190

Kabilash Manivalli Peterpalaniswami, Krishnaswamy Madhavan, Gerry George Mathew, V Jayaprakash

{"title":"Autosomal Dominant Calpainopathy in a Diabetic Patient Complicated by Functional Gitelman Syndrome.","authors":"Kabilash Manivalli Peterpalaniswami, Krishnaswamy Madhavan, Gerry George Mathew, V Jayaprakash","doi":"10.1155/carm/4210190","DOIUrl":"https://doi.org/10.1155/carm/4210190","url":null,"abstract":"Adult-onset Gitelman syndrome with calpainopathy is a rare clinical condition in patients with diabetes mellitus. We present the case of a 52-year-old male diabetic patient who presented with muscle weakness and fatigue. On evaluation, he had reduced power in the thigh and pelvic girdle muscles. Laboratory tests revealed hypokalemia, hypomagnesemia, metabolic alkalosis, kaliuresis, and hypocalciuria, which led to the diagnosis of Gitelman syndrome. Electromyography revealed a myopathic pattern with polyphasic motor unit action potentials of a short duration. Genetic analysis revealed a heterozygous mutation in CAPN3, suggestive of autosomal dominant calpainopathy or limb girdle muscular dystrophy. He was administered intravenous potassium and magnesium supplements, followed by oral potassium chloride, magnesium oxide, and potassium-sparing diuretics. The patient had improved muscle strength on follow-up, with resolution of the electrolyte abnormalities. This case report highlights this rare clinical entity, its variable clinical manifestations, and the pathophysiological mechanisms involved in electrolyte abnormalities.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"4210190"},"PeriodicalIF":0.8,"publicationDate":"2025-06-05","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12163201/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144301186","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 Reclassification of a FBN1 Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation. 通过仔细的临床相关性和基于家庭的评估重新分类与马凡氏综合征相关的未知意义的FBN1变异。

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Case Reports in Medicine Pub Date : 2025-06-02 eCollection Date: 2025-01-01 DOI: 10.1155/carm/8854360

Dominique Bouhamdani, Véronique Allain, Nadia Bouhamdani, Mouna Ben Amor

{"title":"The Reclassification of a FBN1 Variant of Unknown Significance Associated With Marfan Syndrome Through Careful Clinical Correlation and Family-Based Evaluation.","authors":"Dominique Bouhamdani, Véronique Allain, Nadia Bouhamdani, Mouna Ben Amor","doi":"10.1155/carm/8854360","DOIUrl":"10.1155/carm/8854360","url":null,"abstract":"Background:Fibrillin-1 (FBN1) is a major structural component of the extracellular matrix, providing strength and stability to tissues. Pathogenic variants lead to the development of FBN1-associated syndromes which comprise a broad host of phenotypes, and more commonly, Marfan syndrome (MFS). MFS is typically diagnosed in patients presenting with ectopia lentis, thoracic or aortic disease, and skeletal features, which may prompt genetic testing. Case Presentation: In this case report, we describe the reclassification of a newly identified heterozygous FBN1 variant, c.2686T > A, p.(Cys896Ser), to likely pathogenic in a Caucasian 21-year-old female patient presenting with abnormal anterior eye segment with superior bilateral ectopia lentis; joint pain affecting wrists, knees, and upper back; and mild thoracolumbar scoliosis. Identification of this variant led to cascade testing in the patient's 49-year-old mother which revealed the same FBN1 variant and an incidental finding of aortic dilatation, prompting standard management. Notably, the identification and reclassification of the variant led to early diagnosis and preventive management in the patient's mother, including cardiovascular monitoring and treatment. The segregation of the phenotype in both patient and mother, the family member testing, the variant's absence in control populations, and all in silico tools predicting pathogenicity led to the reclassification of this FBN1 variant to likely pathogenic. Conclusion: We highlight the reclassification of a variant of unknown significance through careful clinical correlation and family-based evaluation. This reclassification led to a timely diagnosis and preventive management through cascade testing, demonstrating the real-world utility of genetic testing and cascade screening in connective tissue disorders.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"8854360"},"PeriodicalIF":0.8,"publicationDate":"2025-06-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12149504/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144265328","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

Uremic Pericarditis in a Patient With Hyperphosphatemic Familial Tumoral Calcinosis: Case Report. 尿毒症心包炎合并高磷血症家族性肿瘤钙质沉着症1例报告。

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Case Reports in Medicine Pub Date : 2025-05-29 eCollection Date: 2025-01-01 DOI: 10.1155/carm/3968524

Rana A Nabalawi

{"title":"Uremic Pericarditis in a Patient With Hyperphosphatemic Familial Tumoral Calcinosis: Case Report.","authors":"Rana A Nabalawi","doi":"10.1155/carm/3968524","DOIUrl":"10.1155/carm/3968524","url":null,"abstract":"Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare hereditary disorder characterized by defective phosphate homeostasis, leading to ectopic calcium deposition in soft tissues. This case report describes a 41 year-old Jordanian male with HFTC and stage 5 chronic kidney disease (CKD) secondary to nonsteroidal anti-inflammatory drug (NSAID) abuse, who presented with symptoms suggestive of uremic pericarditis (UP). His medical history included multiple excisions for tumoral calcinosis, epilepsy, and hypertension. Upon presentation, the patient exhibited severe retrosternal pain, dyspnea, and signs of renal failure. Laboratory findings confirmed severe anemia, metabolic acidosis, hyperkalemia, hyperphosphatemia, and hypocalcemia. Imaging revealed mild pericardial effusion and echogenic kidneys. Following a diagnosis of UP, the patient was initiated on daily hemodialysis and received blood transfusions and antibiotic therapy. His condition improved significantly, with complete regression of pleural effusion and stabilization of renal function. This case emphasizes the importance of effective pain management in HFTC to prevent the misuse of analgesics like NSAIDs, which can lead to severe complications such as UP. This report serves as a valuable reminder of the intricate relationship between medication management and the worsening of underlying health conditions in patients with HFTC.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"3968524"},"PeriodicalIF":0.8,"publicationDate":"2025-05-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12140817/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144233279","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 Sublingual Hematoma in a COVID-19 Patient on Heparin Therapy: A Case Report and Review of Management Challenges. 1例接受肝素治疗的COVID-19患者自发性舌下血肿：1例报告及管理挑战回顾

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Case Reports in Medicine Pub Date : 2025-05-24 eCollection Date: 2025-01-01 DOI: 10.1155/carm/3371235

Mohsen Golkar, Anita Taheri, Milad Baseri, Parnian Nikraftar, Ramin Ansari, Ardeshir Khorsand

{"title":"Spontaneous Sublingual Hematoma in a COVID-19 Patient on Heparin Therapy: A Case Report and Review of Management Challenges.","authors":"Mohsen Golkar, Anita Taheri, Milad Baseri, Parnian Nikraftar, Ramin Ansari, Ardeshir Khorsand","doi":"10.1155/carm/3371235","DOIUrl":"10.1155/carm/3371235","url":null,"abstract":"COVID-19 is associated with a hypercoagulable state, often managed with anticoagulation therapy to prevent thrombotic events. However, anticoagulation can lead to rare but serious bleeding complications. We present the case of a 62-year-old male with severe COVID-19 admitted to the intensive care unit (ICU) with shortness of breath, cough, and oxygen desaturation. Also, he had diabetes, undergoing treatment with Neutral Protamine Hagedorn (NPH) insulin, and ischemic heart disease. On the eighth day of his admission, he developed a spontaneous sublingual hematoma while on unfractionated heparin therapy. The patient was managed conservatively with blood pressure control, cold compresses, adjustment of anticoagulation and close monitoring with laboratory anticoagulation tests, and careful observation. Despite the hematoma's initial enlargement, he exhibited no respiratory distress, and the hematoma gradually resolved without surgical intervention. This case highlights the need for vigilant monitoring, careful management of anticoagulation, and a multidisciplinary approach in balancing the benefits and risks of anticoagulation in COVID-19 patients.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"3371235"},"PeriodicalIF":0.8,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126272/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198337","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

Permanent Congenital Hypothyroidism due to Rare Thyroglobulin Gene Variant (p.Cys1476Arg): A Delayed Diagnosis of Thyroid Dyshormonogenesis. 由罕见甲状腺球蛋白基因变异引起的永久性先天性甲状腺功能减退症（p.Cys1476Arg）：甲状腺激素生成障碍的延迟诊断。

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Case Reports in Medicine Pub Date : 2025-05-24 eCollection Date: 2025-01-01 DOI: 10.1155/carm/5313611

Ghassan Mohamadsalih, Khalid Al Bureshad, Idris Mohammed, Shiga Chirayath, Elwaseila Hamdoun, Khalid Hussain

{"title":"Permanent Congenital Hypothyroidism due to Rare Thyroglobulin Gene Variant (p.Cys1476Arg): A Delayed Diagnosis of Thyroid Dyshormonogenesis.","authors":"Ghassan Mohamadsalih, Khalid Al Bureshad, Idris Mohammed, Shiga Chirayath, Elwaseila Hamdoun, Khalid Hussain","doi":"10.1155/carm/5313611","DOIUrl":"10.1155/carm/5313611","url":null,"abstract":"Thyroid dyshormonogenesis is an inherited hypothyroidism caused by a monogenic defect, in the vast majority of cases, in thyroid hormone biosynthesis. It is commonly associated with thyroid enlargement which is vulnerable to nodule formation. We present a Qatari patient with an overlooked diagnosis of thyroid dyshormonogenesis due to thyroglobulin gene mutation. A 10.5-year-old boy has been following up for congenital hypothyroidism since the age of 4 years. He was diagnosed by newborn screening that was confirmed by laboratory thyroid function testing; however, no further workup was done to understand the underlying cause. He was born to consanguineous parents with a family history of hypothyroidism. The patient was not adherent to his medication and follow-up visits, and thyroid-stimulating hormone was above 5 mIU/L most of the time. On examination, he had a goiter that developed a few months ago. The father admitted that it was there at birth but disappeared with levothyroxine therapy. Molecular genetics revealed a homozygous c.4426T > C, p.Cys1476Arg variant in the thyroglobulin gene. This variant was only previously reported, in the Middle East region, in five patients. Determination of congenital hypothyroidism underlying etiology is important for family counseling and long-term management.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"5313611"},"PeriodicalIF":0.8,"publicationDate":"2025-05-24","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12126254/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144198336","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

Sigmoid Colon Intussusception Secondary to Giant Colonic Submucosal Lipoma: A Case Report. 乙状结肠粘膜下脂肪瘤继发于乙状结肠肠套叠1例。

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Case Reports in Medicine Pub Date : 2025-05-21 eCollection Date: 2025-01-01 DOI: 10.1155/carm/9948237

Mohammed Alessa

{"title":"Sigmoid Colon Intussusception Secondary to Giant Colonic Submucosal Lipoma: A Case Report.","authors":"Mohammed Alessa","doi":"10.1155/carm/9948237","DOIUrl":"10.1155/carm/9948237","url":null,"abstract":"Background: Lipoma is one of the benign tumors that originate from adipose tissue, most likely in the neck, chest, back, shoulders, arms, and thighs. It is rare to find lipoma originating from submucosal adipose tissue. Colonic submucosal lipomas develop at frequency of 0.035%-4.4%. The incidence of submucosal colonic lipoma is 0.15% at colonoscopy. Intussusception is a common cause of bowel obstruction in children; however, it is rare in adults. Usually, it has a malignant background in adults. Case Presentation: A 43-year-old male presented to the hospital with a history of intermittent abdominal pain for 6 months. Pain is associated with alternating diarrhea and constipation. Physical examination showed left lower abdominal tenderness. CT scan of the abdomen showed sigmoid colo-colonic intussusception. Discussion: Colo-colonic intussusceptions account for 17% of all intestinal intussusceptions in adults, and it is most likely caused by malignant lesions rather than a submucosal lipoma. Conclusion: Submucosal lipoma is a rare cause of colo-colonic intussusceptions. It should be considered in differential diagnosis.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"9948237"},"PeriodicalIF":0.8,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12119157/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144172728","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

Severe Presentation of Cannabinoid Hyperemesis Syndrome With Mixed Acid-Base Disorder and Cardiac Complications: A Case Report. 重度大麻素剧吐综合征伴混合酸碱失调和心脏并发症1例报告。

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Case Reports in Medicine Pub Date : 2025-05-21 eCollection Date: 2025-01-01 DOI: 10.1155/carm/8161294

Giovanni Mantelli, Armando Fiore, Caterina Barberi, Barbara Zaia, Giorgio Ricci, Massimo Carollo, Fabio Malalan

{"title":"Severe Presentation of Cannabinoid Hyperemesis Syndrome With Mixed Acid-Base Disorder and Cardiac Complications: A Case Report.","authors":"Giovanni Mantelli, Armando Fiore, Caterina Barberi, Barbara Zaia, Giorgio Ricci, Massimo Carollo, Fabio Malalan","doi":"10.1155/carm/8161294","DOIUrl":"10.1155/carm/8161294","url":null,"abstract":"Background: Cannabinoid hyperemesis syndrome (CHS) is a condition characterized by cyclic abdominal pain, vomiting, and nausea, primarily affecting adolescents and adults with a history of chronic cannabis use. The diagnosis of CHS is clinical, with symptom resolution upon cannabis cessation considered pathognomonic. The overlap of CHS symptoms with other conditions complicates the differential diagnosis, particularly in emergency settings. Case Presentation: We report an unusual case of a 28-year-old man admitted to the Emergency Department of Rovereto (Italy) with limb paresthesia and agitation. Initial evaluation revealed indirect clinical signs of hypocalcemia, and QTc prolongation and severe hypokalemia on electrocardiogram. The arterial blood gas analysis suggested mixed acid-base disturbances. His symptoms improved with aggressive electrolyte correction, benzodiazepine administration, magnesium sulfate administration, and fluid resuscitation. Given the significant risk of arrhythmias, antiemetics known to prolong QTc, such as dopamine antagonists, were contraindicated, and midazolam was used as an alternative for symptom control (both nausea and agitation). Conclusion: This case underscores the importance of recognizing CHS as a potential etiology in patients with recurrent vomiting and a history of chronic cannabis use, even in the presence of atypical findings such as profound electrolyte imbalances and cardiac abnormalities. Given the protracted recovery period associated with CHS, early identification and patient education regarding cannabis cessation are crucial in preventing recurrent episodes.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"8161294"},"PeriodicalIF":0.8,"publicationDate":"2025-05-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12119160/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144172727","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

Nonsurgical Management of Furcation Defects Using Cervical Sealing With Calcium-Silicate Cements: A Clinical Case Series. 应用硅酸钙骨水泥封堵颈椎分叉缺损的非手术治疗：临床病例系列。

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Case Reports in Medicine Pub Date : 2025-05-20 eCollection Date: 2025-01-01 DOI: 10.1155/carm/8048506

Saeed Asgary

{"title":"Nonsurgical Management of Furcation Defects Using Cervical Sealing With Calcium-Silicate Cements: A Clinical Case Series.","authors":"Saeed Asgary","doi":"10.1155/carm/8048506","DOIUrl":"10.1155/carm/8048506","url":null,"abstract":"Furcation defects pose significant challenges in endodontic and periodontal therapy due to their complex anatomy and limited accessibility. Achieving a reliable seal at the apical/cervical/coronal levels is critical for long-term treatment success. This case series investigates the use of calcium-silicate biomaterials, specifically calcium-enriched mixture (CEM) cement, as cervical sealants in the nonsurgical management of furcation defects with endodontic origin, evaluating their regenerative potential and clinical applicability. Six endodontically treated teeth with furcation defects were included. All cases had undergone orthograde root canal therapy in the past and then were nonsurgically retreated with CEM cement placed as a cervical seal for this report. Baseline and follow-up evaluations, conducted over an average period of 31 months, assessed the clinical parameters of probing depths, furcation involvement, and radiographic evidence of healing. Radiographically, five cases demonstrated complete healing/regeneration, and one case showed partial resolution of the furcal lesion. Improvements in periodontal parameters, including lesser probing depths and elimination of bleeding and discharge, were observed across all cases, resulting in restored functionality of the affected teeth. The results suggest that CEM cement was an effective cervical sealing biomaterial for the nonsurgical management of furcation defects with endodontic origin. These findings highlight the potential of bioactive endodontic materials in minimally invasive dental therapies. Further studies with larger sample sizes and long-term follow-ups are needed to validate these findings.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"8048506"},"PeriodicalIF":0.8,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12116208/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144155879","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

Pembrolizumab-Associated Multiorgan Sarcoid-Like Reaction: A Case Report and Review of Literature. 派姆单抗相关的多器官结节样反应：1例报告及文献回顾。

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Case Reports in Medicine Pub Date : 2025-05-20 eCollection Date: 2025-01-01 DOI: 10.1155/carm/9915002

Majd Enayah, Tameem Al-Aqtash

{"title":"Pembrolizumab-Associated Multiorgan Sarcoid-Like Reaction: A Case Report and Review of Literature.","authors":"Majd Enayah, Tameem Al-Aqtash","doi":"10.1155/carm/9915002","DOIUrl":"10.1155/carm/9915002","url":null,"abstract":"Background: Immune checkpoints are molecules that serve to augment or inhibit the immune response. The treatment landscape for numerous tumors now relies significantly on immune checkpoint inhibitors (ICIs). Pembrolizumab, a subset of ICIs specifically focused on the programmed cell death 1 (PD-1) molecule. By blocking PD-1, these inhibitors enhance the ability of the immune system to fight cancer cells. Although PD-1 inhibitors are critical in cancer treatment, their use can be associated with immune-related adverse events, such as ICI-related sarcoid-like reaction. Case Presentation: This report describes a 49-year-old female patient with stage IIIA breast cancer breast cancer who developed ICI-related sarcoid-like reaction after starting a neoadjuvant chemoimmunotherapy regimen that included Pembrolizumab. After 4 months of ongoing treatment, she started having significant nausea and vomiting. Computed tomography (CT) scans performed during hospitalization revealed multiple pathologically enlarged thoracic lymph nodes, suspicious for disease progression. Initially, the laboratory workup and cultures were unrevealing. However, esophagogastroduodenoscopy and bronchoscopy were performed, showing noncaseating granulomas in both the stomach and thoracic lymph node biopsy samples. The patient was diagnosed with a sarcoidosis-like reaction to Pembrolizumab. Notably, her symptoms rapidly improved upon initiating systemic corticosteroids. Follow-up CT scan showed a significant improvement in lymphadenopathy after discontinuing Pembrolizumab. Conclusion: This case emphasizes the significance of acknowledging sarcoid-like reactions as possible adverse effects of Pembrolizumab. Given the rising utilization of PD-1 inhibitors, it becomes imperative to be mindful of such adverse events. This awareness helps avoid misdiagnosing disease progression and aids in making informed decisions about ongoing treatment with ICIs.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"9915002"},"PeriodicalIF":0.8,"publicationDate":"2025-05-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12116203/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144155996","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

Beating the Odds: A Successful Pregnancy in a Patient With ALK-Rearranged Lung Cancer on Alectinib. 战胜困难：alk重排肺癌患者在阿勒替尼治疗下成功怀孕。

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Case Reports in Medicine Pub Date : 2025-05-10 eCollection Date: 2025-01-01 DOI: 10.1155/carm/9032427

Nicholas Yeo, Fiona Johnston, Louise Fay, Paul Lilburn, Debra Kennedy, Helen Barrett, Antonia Shand, Giselle Kidson-Gerber, Monica Tang, Daniel Challis, Benjamin Y Kong

{"title":"Beating the Odds: A Successful Pregnancy in a Patient With ALK-Rearranged Lung Cancer on Alectinib.","authors":"Nicholas Yeo, Fiona Johnston, Louise Fay, Paul Lilburn, Debra Kennedy, Helen Barrett, Antonia Shand, Giselle Kidson-Gerber, Monica Tang, Daniel Challis, Benjamin Y Kong","doi":"10.1155/carm/9032427","DOIUrl":"10.1155/carm/9032427","url":null,"abstract":"The management of oncogene-driven non-small cell lung cancer (NSCLC) during pregnancy presents unique challenges due to limited safety data on targeted therapies. Anaplastic lymphoma kinase (ALK)-rearranged NSCLC is a rare but increasingly recognized entity in young women, including during pregnancy. Here, we report the case of a 37-year-old woman diagnosed with metastatic ALK-rearranged NSCLC during her first pregnancy, who was commenced on alectinib. Following this, she had a successful second pregnancy whilst being treated with alectinib (withheld during weeks 6-10 of gestation to avoid the critical period of organogenesis). Both pregnancies resulted in healthy infants with no complications or evidence of developmental delays. This case highlights the importance of a multidisciplinary approach involving oncology, maternal-fetal medicine, clinical genetics, obstetrics medicine, and obstetrics to balance maternal cancer control and fetal health. While preclinical studies of alectinib suggest teratogenic risks, this and other reported cases demonstrate its potential for safe use during pregnancy with careful planning. Pathological examination of the placenta in our case revealed no malignant cells, and maternal disease remained controlled. As targeted therapies extend survival in advanced NSCLC, more patients may contemplate pregnancy, emphasizing the need for robust evidence to guide treatment decisions. This case contributes to the growing body of evidence supporting the feasibility of managing pregnancy in patients with ALK-rearranged NSCLC using targeted therapies like alectinib, while underscoring the importance of long-term follow-up for the exposed offspring.","PeriodicalId":9627,"journal":{"name":"Case Reports in Medicine","volume":"2025 ","pages":"9032427"},"PeriodicalIF":0.8,"publicationDate":"2025-05-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12085245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144093002","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