Pub Date : 2026-03-01Epub Date: 2025-06-05DOI: 10.1097/RLU.0000000000006013
Priyanka Verma, Mali Madhava Reddy, Anurag Lila, Sandip Basu
In primary hyperparathyroidism (PHPT), exact preoperative localization of parathyroid adenomas is essential for best surgical planning. While new PET tracers like 18 F-fluorocholine and 68 Ga-Trivehexin show promise, traditional imaging consists of 99m Tc-Sestamibi scintigraphy, SPECT/CT, and 4DCT. Herein, we report the potential new application of another angiogenesis imaging agent, 68 Ga-NODAGA-RGD PET/CT, illustrated in a 12-year-old girl with PHPT. The scan revealed diffuse skeletal tracer uptake (superscan) in addition to localizing right inferior parathyroid adenoma, thereby indicating systemic effects. This case underscores 68 Ga-RGD PET/CT as a possible instrument for parathyroid imaging and systemic evaluation, justifying more research to define its diagnostic value and role in treatment response evaluation.
{"title":"Localization of Parathyroid Adenoma With 68 Ga-NODAGA-RGD PET/CT and Demonstration of \"Metabolic Superscan\" With Lincoln Sign and Costochondral Junction Beading : A Potential Clinical Application.","authors":"Priyanka Verma, Mali Madhava Reddy, Anurag Lila, Sandip Basu","doi":"10.1097/RLU.0000000000006013","DOIUrl":"10.1097/RLU.0000000000006013","url":null,"abstract":"<p><p>In primary hyperparathyroidism (PHPT), exact preoperative localization of parathyroid adenomas is essential for best surgical planning. While new PET tracers like 18 F-fluorocholine and 68 Ga-Trivehexin show promise, traditional imaging consists of 99m Tc-Sestamibi scintigraphy, SPECT/CT, and 4DCT. Herein, we report the potential new application of another angiogenesis imaging agent, 68 Ga-NODAGA-RGD PET/CT, illustrated in a 12-year-old girl with PHPT. The scan revealed diffuse skeletal tracer uptake (superscan) in addition to localizing right inferior parathyroid adenoma, thereby indicating systemic effects. This case underscores 68 Ga-RGD PET/CT as a possible instrument for parathyroid imaging and systemic evaluation, justifying more research to define its diagnostic value and role in treatment response evaluation.</p>","PeriodicalId":10692,"journal":{"name":"Clinical Nuclear Medicine","volume":" ","pages":"e199-e200"},"PeriodicalIF":9.6,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144233443","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-01Epub Date: 2025-05-13DOI: 10.1097/RLU.0000000000005970
Meng Dai, Kai Yang, Xiujuan Zhao, Jingmian Zhang, Xinming Zhao
A 53-year-old man presented with right upper abdominal pain for more than 3 weeks without an apparent cause. Multiple sequences of MR imaging detected multiple liver nodules with irregular peripheral enhancement. 18 F-FDG and 68 Ga-FAPI PET showed multiple elevated tracer uptake, which mimicked multiple liver metastases of unknown primary focus. Finally, the pathology of ultrasound-guided biopsy confirmed the diagnosis of hepatic eosinophilic granuloma (HEG).
{"title":"Hepatic Eosinophilic Granuloma Mimicking Liver Metastases of Unknown Primary Focus on 18 F-FDG and 68 Ga-FAPI PET/CT.","authors":"Meng Dai, Kai Yang, Xiujuan Zhao, Jingmian Zhang, Xinming Zhao","doi":"10.1097/RLU.0000000000005970","DOIUrl":"10.1097/RLU.0000000000005970","url":null,"abstract":"<p><p>A 53-year-old man presented with right upper abdominal pain for more than 3 weeks without an apparent cause. Multiple sequences of MR imaging detected multiple liver nodules with irregular peripheral enhancement. 18 F-FDG and 68 Ga-FAPI PET showed multiple elevated tracer uptake, which mimicked multiple liver metastases of unknown primary focus. Finally, the pathology of ultrasound-guided biopsy confirmed the diagnosis of hepatic eosinophilic granuloma (HEG).</p>","PeriodicalId":10692,"journal":{"name":"Clinical Nuclear Medicine","volume":" ","pages":"e163-e165"},"PeriodicalIF":9.6,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143978961","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Gilal fibrillary acidic protein (GFAP) meningomyelitis is a rare autoimmune inflammatory disorder of the central nervous system, typically presenting with subacute encephalopathy, ataxia, optic neuritis, and cerebrospinal fluid (CSF) pleocytosis. It is characterized by the presence of GFAP-specific autoantibodies, which target astrocytes and cause widespread neuroinflammation. 18 F-FDG PET/CT plays a critical role in the early diagnosis of autoimmune encephalitides, particularly in cases where conventional MRI findings may be subtle or nonspecific. Here, we present a case of 21-year-old woman who presented with early morning occipital headache with fever, followed by progressive drowsiness and acute urinary retention. On clinical examination, meningeal signs were positive. MRI brain was suggestive of leptomeningeal enhancement involving the brain and spinal cord, and 18 F-FDG PET/CT was done for further evaluation.
Gilal fibrillary acid protein (GFAP) meningomyelitis是一种罕见的中枢神经系统自身免疫性炎症性疾病,典型表现为亚急性脑病、共济失调、视神经炎和脑脊液(CSF)多细胞症。它的特点是存在gfap特异性自身抗体,其目标是星形胶质细胞并引起广泛的神经炎症。18F-FDG PET/CT在自身免疫性脑肽的早期诊断中起着至关重要的作用,特别是在常规MRI发现可能不明显或非特异性的情况下。在这里,我们提出一个21岁的女性谁提出了清晨枕部头痛发烧,随后进行性嗜睡和急性尿潴留。临床检查,脑膜征为阳性。脑MRI提示轻脑膜增强累及脑和脊髓,并做18F-FDG PET/CT进一步评估。
{"title":"18 F-FDG PET/CT Findings in an Atypical Case of Glial Fibrillary Acidic Protein Meningomyelitis.","authors":"Yamini Dharmashaktu, Ritwik Nitin Wakankar, Akhil Venugopal, Rakesh Kumar","doi":"10.1097/RLU.0000000000005992","DOIUrl":"10.1097/RLU.0000000000005992","url":null,"abstract":"<p><p>Gilal fibrillary acidic protein (GFAP) meningomyelitis is a rare autoimmune inflammatory disorder of the central nervous system, typically presenting with subacute encephalopathy, ataxia, optic neuritis, and cerebrospinal fluid (CSF) pleocytosis. It is characterized by the presence of GFAP-specific autoantibodies, which target astrocytes and cause widespread neuroinflammation. 18 F-FDG PET/CT plays a critical role in the early diagnosis of autoimmune encephalitides, particularly in cases where conventional MRI findings may be subtle or nonspecific. Here, we present a case of 21-year-old woman who presented with early morning occipital headache with fever, followed by progressive drowsiness and acute urinary retention. On clinical examination, meningeal signs were positive. MRI brain was suggestive of leptomeningeal enhancement involving the brain and spinal cord, and 18 F-FDG PET/CT was done for further evaluation.</p>","PeriodicalId":10692,"journal":{"name":"Clinical Nuclear Medicine","volume":" ","pages":"e172-e173"},"PeriodicalIF":9.6,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145602659","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Technetium-99m Technegas SPECT/CT is a promising tool for the localization of postoperative air leaks in thoracic surgery patients. We report a case of successful leak detection in a mechanically ventilated patient following thoracoscopic surgery and revision. Radioventilation was performed by connecting the TechnegasPlus (Cyclomedica Pty Ltd.) generator's administration set to the patient's endotracheal tube and gently inflating the lungs with a disposable respirator through the generator's assist valve. Intense pleural Technegas accumulation was observed as a correlate of the air leak. Characteristic changes of ventilation distribution secondary to mechanical ventilation are discussed.
{"title":"Pulmonary Air Leak SPECT/CT in a Mechanically Ventilated Intensive Care Patient.","authors":"Korbinian Krieger, Benedikt Florian Scherr, Hans Gelpke, Irene Janet Bosma, Bernd Klaeser","doi":"10.1097/RLU.0000000000006281","DOIUrl":"10.1097/RLU.0000000000006281","url":null,"abstract":"<p><p>Technetium-99m Technegas SPECT/CT is a promising tool for the localization of postoperative air leaks in thoracic surgery patients. We report a case of successful leak detection in a mechanically ventilated patient following thoracoscopic surgery and revision. Radioventilation was performed by connecting the TechnegasPlus (Cyclomedica Pty Ltd.) generator's administration set to the patient's endotracheal tube and gently inflating the lungs with a disposable respirator through the generator's assist valve. Intense pleural Technegas accumulation was observed as a correlate of the air leak. Characteristic changes of ventilation distribution secondary to mechanical ventilation are discussed.</p>","PeriodicalId":10692,"journal":{"name":"Clinical Nuclear Medicine","volume":" ","pages":"242-243"},"PeriodicalIF":9.6,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145809800","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-01Epub Date: 2025-12-15DOI: 10.1097/RLU.0000000000006258
Jialin Xiang, Yu Yan, Zhiwen Zhang, Li Zhang, Zhaohui Zhu
[ 18 F]FDG PET/CT is widely used in the diagnosis and treatment monitoring of lung cancer, yet its ability to differentiate histologic heterogeneity remains limited. In this case, a 75-year-old man presented with a large pulmonary mass adjacent to a small satellite lesion. Bronchoscopic biopsy of the main lesion revealed small-cell lung cancer (SCLC). After first-line chemotherapy, the primary lesion showed partial response, while the smaller nodule remained stable. Posttreatment [ 18 F]FDG and [ 68 Ga]Ga-DOTA-3P-TATE-RGD PET/CT demonstrated divergent uptake patterns. Rebiopsy of the nodule with discordant tracer uptake confirmed squamous cell carcinoma, indicating synchronous double primary lung cancers. The dual-targeted tracer PET/CT guided precise biopsy and individualized therapy.
{"title":"Complementary Role of [ 68 Ga]Ga-DOTA-3P-TATE-RGD PET/CT in Discriminating Non-Small Cell From Small Cell Lung Cancer.","authors":"Jialin Xiang, Yu Yan, Zhiwen Zhang, Li Zhang, Zhaohui Zhu","doi":"10.1097/RLU.0000000000006258","DOIUrl":"10.1097/RLU.0000000000006258","url":null,"abstract":"<p><p>[ 18 F]FDG PET/CT is widely used in the diagnosis and treatment monitoring of lung cancer, yet its ability to differentiate histologic heterogeneity remains limited. In this case, a 75-year-old man presented with a large pulmonary mass adjacent to a small satellite lesion. Bronchoscopic biopsy of the main lesion revealed small-cell lung cancer (SCLC). After first-line chemotherapy, the primary lesion showed partial response, while the smaller nodule remained stable. Posttreatment [ 18 F]FDG and [ 68 Ga]Ga-DOTA-3P-TATE-RGD PET/CT demonstrated divergent uptake patterns. Rebiopsy of the nodule with discordant tracer uptake confirmed squamous cell carcinoma, indicating synchronous double primary lung cancers. The dual-targeted tracer PET/CT guided precise biopsy and individualized therapy.</p>","PeriodicalId":10692,"journal":{"name":"Clinical Nuclear Medicine","volume":" ","pages":"244-246"},"PeriodicalIF":9.6,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145762465","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-01Epub Date: 2025-06-04DOI: 10.1097/RLU.0000000000006010
Mark Bartholomä, Florian Rosar, Caroline Burgard, Stephan Maus, Moritz-Valentin Schreck, Samer Ezziddin
A 72-year-old man underwent 18 F-DCFPyL PSMA PET/CT imaging for the localization of biochemical recurrence (BCR) of prostate cancer. The scan revealed no definite findings, with only a vague uptake of uncertain significance in the bladder neck region. An additional PET/CT scan using a 64 Cu-labeled trimeric PSMA ligand demonstrated astonishing distinct uptake in the former prostate bed, unequivocally confirming the presence of a small local recurrence and allowing for targeted local therapy. This intriguing case highlights the potential of PET/CT using 64 Cu-labeled trimeric PSMA ligands, especially when conventional PSMA PET/CT scans yield ambiguous results.
{"title":"Novel 64 Cu-labeled Trimeric PSMA Ligand Unequivocally Identifies Local Recurrence of Prostate Cancer Ambiguously Imaged by 18 F-DCFPyL PSMA PET/CT.","authors":"Mark Bartholomä, Florian Rosar, Caroline Burgard, Stephan Maus, Moritz-Valentin Schreck, Samer Ezziddin","doi":"10.1097/RLU.0000000000006010","DOIUrl":"10.1097/RLU.0000000000006010","url":null,"abstract":"<p><p>A 72-year-old man underwent 18 F-DCFPyL PSMA PET/CT imaging for the localization of biochemical recurrence (BCR) of prostate cancer. The scan revealed no definite findings, with only a vague uptake of uncertain significance in the bladder neck region. An additional PET/CT scan using a 64 Cu-labeled trimeric PSMA ligand demonstrated astonishing distinct uptake in the former prostate bed, unequivocally confirming the presence of a small local recurrence and allowing for targeted local therapy. This intriguing case highlights the potential of PET/CT using 64 Cu-labeled trimeric PSMA ligands, especially when conventional PSMA PET/CT scans yield ambiguous results.</p>","PeriodicalId":10692,"journal":{"name":"Clinical Nuclear Medicine","volume":" ","pages":"e195-e196"},"PeriodicalIF":9.6,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144233445","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Epithelioid sarcoma (ES) is an ultra-rare and aggressive soft tissue malignancy, predominantly affecting the extremities. Scalp involvement in ES is exceedingly uncommon. This case report describes a 25-year-old man diagnosed with a scalp mass confirmed to be ES. Despite undergoing surgical resection and adjuvant chemoradiation, the tumor recurred, causing significant pain and erosion of adjacent bony structures. A multidisciplinary team recommended 99m Tc-FAPI-46 scintigraphy, which demonstrated high uptake in the tumor masses. The patient was subsequently treated with 177 Lu-FAPI-2286 in 4 cycles. Initial cycles showed promising treatment responses; however, disease progression was observed in the final cycle.
{"title":"99m Tc-FAPI-46 Scintigraphy and Radioligand Therapy With 177 Lu-FAPI-2286 in Locally Advanced Epithelioid Sarcoma.","authors":"Nasrin Raeisi, Amin Saber Tanha, Kamran Aryana, Soodabeh Shahid Sales, Somaye Barashki","doi":"10.1097/RLU.0000000000005979","DOIUrl":"10.1097/RLU.0000000000005979","url":null,"abstract":"<p><p>Epithelioid sarcoma (ES) is an ultra-rare and aggressive soft tissue malignancy, predominantly affecting the extremities. Scalp involvement in ES is exceedingly uncommon. This case report describes a 25-year-old man diagnosed with a scalp mass confirmed to be ES. Despite undergoing surgical resection and adjuvant chemoradiation, the tumor recurred, causing significant pain and erosion of adjacent bony structures. A multidisciplinary team recommended 99m Tc-FAPI-46 scintigraphy, which demonstrated high uptake in the tumor masses. The patient was subsequently treated with 177 Lu-FAPI-2286 in 4 cycles. Initial cycles showed promising treatment responses; however, disease progression was observed in the final cycle.</p>","PeriodicalId":10692,"journal":{"name":"Clinical Nuclear Medicine","volume":" ","pages":"e166-e168"},"PeriodicalIF":9.6,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144526689","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-01Epub Date: 2025-10-23DOI: 10.1097/RLU.0000000000006188
Wei Zhang, Liu Xiao, Yan Zhou, Shulei Pan, Wenjie Zhang
Primary renal NUT carcinoma is exceptionally rare. Herein, we report 68 Ga-FAPI-04 PET/CT findings in a 10-year-old girl with this malignancy. The 68 Ga-FAPI-04 PET/CT imaging revealed a right renal mass with intense FAPI uptake, accompanied by FAPI-avid retroperitoneal lymphadenopathy and pulmonary metastases. This case highlights the potential of 68 Ga-FAPI-04 PET/CT for precise staging of renal NUT carcinoma.
{"title":"68 Ga-FAPI-04 PET/CT in Renal NUT Carcinoma.","authors":"Wei Zhang, Liu Xiao, Yan Zhou, Shulei Pan, Wenjie Zhang","doi":"10.1097/RLU.0000000000006188","DOIUrl":"10.1097/RLU.0000000000006188","url":null,"abstract":"<p><p>Primary renal NUT carcinoma is exceptionally rare. Herein, we report 68 Ga-FAPI-04 PET/CT findings in a 10-year-old girl with this malignancy. The 68 Ga-FAPI-04 PET/CT imaging revealed a right renal mass with intense FAPI uptake, accompanied by FAPI-avid retroperitoneal lymphadenopathy and pulmonary metastases. This case highlights the potential of 68 Ga-FAPI-04 PET/CT for precise staging of renal NUT carcinoma.</p>","PeriodicalId":10692,"journal":{"name":"Clinical Nuclear Medicine","volume":" ","pages":"e185-e186"},"PeriodicalIF":9.6,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145630901","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-01Epub Date: 2025-12-19DOI: 10.1097/RLU.0000000000006272
Xilan Yao, Lijing Wei, Xiao Lei, Zheqin Wang, Jigang Yang
Unilateral breast infiltration caused by T-cell acute lymphoblastic leukemia (T-ALL) is a rare occurrence. This report presents the 18 F-FDG PET/CT findings of unilateral breast relapse in a male patient diagnosed with T-ALL. After systematic therapy, a follow-up PET/CT scan revealed no evidence of FDG-avid lesions. This case highlights the critical role of PET/CT in detecting and characterizing extramedullary disease involvement.
{"title":"18 F-FDG PET/CT Manifestation of Unilateral Breast Involvement in a Male Patient With T-Cell Acute Lymphoblastic Leukemia.","authors":"Xilan Yao, Lijing Wei, Xiao Lei, Zheqin Wang, Jigang Yang","doi":"10.1097/RLU.0000000000006272","DOIUrl":"10.1097/RLU.0000000000006272","url":null,"abstract":"<p><p>Unilateral breast infiltration caused by T-cell acute lymphoblastic leukemia (T-ALL) is a rare occurrence. This report presents the 18 F-FDG PET/CT findings of unilateral breast relapse in a male patient diagnosed with T-ALL. After systematic therapy, a follow-up PET/CT scan revealed no evidence of FDG-avid lesions. This case highlights the critical role of PET/CT in detecting and characterizing extramedullary disease involvement.</p>","PeriodicalId":10692,"journal":{"name":"Clinical Nuclear Medicine","volume":" ","pages":"261-262"},"PeriodicalIF":9.6,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145809782","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2026-03-01Epub Date: 2025-11-21DOI: 10.1097/RLU.0000000000006238
Hanyi Fang, Anqi Tang, Cheng Tang, Xiaoli Lan, Xun Sun
We report the multimodal PET/MR imaging findings in a 31-year-old woman with a novel presenilin 1 (PSEN1) missense mutation (c.699G>A, p.M233I) who developed progressive cognitive decline and parkinsonian features. Multimodal imaging, including glucose metabolism, dopamine transporter function, amyloid-β pathology, and tau protein PET imaging, combined with structural MRI, revealed widespread abnormalities concordant with her clinical manifestations. Findings included glucose hypometabolism, dopaminergic dysfunction, amyloid and tau deposition, and cerebellar atrophy. This case highlights the diagnostic value of multiprobe PET/MR imaging in characterizing complex neurodegenerative phenotypes and expands the genotypic and phenotypic spectrum of PSEN1 -associated early-onset Alzheimer's disease (EOAD) with parkinsonism.
我们报告了一名31岁女性的多模态PET/MR成像结果,该女性患有新型早老素1 (PSEN1)错义突变(c.699G> a, p.M233I),并出现进行性认知能力下降和帕金森特征。多模式成像包括葡萄糖代谢、多巴胺转运蛋白功能、淀粉样蛋白-β病理、tau蛋白PET成像,并结合结构MRI显示广泛的异常与临床表现一致。结果包括葡萄糖代谢低下,多巴胺能功能障碍,淀粉样蛋白和tau沉积,以及小脑萎缩。本病例强调了多探针PET/MR成像在表征复杂神经退行性表型方面的诊断价值,并扩大了psen1相关早发性阿尔茨海默病(EOAD)伴帕金森病的基因型和表型谱。
{"title":"Multimodal PET/MR Imaging in Early-onset Alzheimer's Disease With Parkinsonism due to a Novel Presenilin-1 (M233I) Mutation.","authors":"Hanyi Fang, Anqi Tang, Cheng Tang, Xiaoli Lan, Xun Sun","doi":"10.1097/RLU.0000000000006238","DOIUrl":"10.1097/RLU.0000000000006238","url":null,"abstract":"<p><p>We report the multimodal PET/MR imaging findings in a 31-year-old woman with a novel presenilin 1 (PSEN1) missense mutation (c.699G>A, p.M233I) who developed progressive cognitive decline and parkinsonian features. Multimodal imaging, including glucose metabolism, dopamine transporter function, amyloid-β pathology, and tau protein PET imaging, combined with structural MRI, revealed widespread abnormalities concordant with her clinical manifestations. Findings included glucose hypometabolism, dopaminergic dysfunction, amyloid and tau deposition, and cerebellar atrophy. This case highlights the diagnostic value of multiprobe PET/MR imaging in characterizing complex neurodegenerative phenotypes and expands the genotypic and phenotypic spectrum of PSEN1 -associated early-onset Alzheimer's disease (EOAD) with parkinsonism.</p>","PeriodicalId":10692,"journal":{"name":"Clinical Nuclear Medicine","volume":" ","pages":"252-253"},"PeriodicalIF":9.6,"publicationDate":"2026-03-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145707763","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":3,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}