Michelle Kwon, Onur Yildirim, Kyung K Peck, Michael Starc, Julio Arevalo-Perez, Eric Lis, Sasan Karimi, Andrei Holodny, Atin Saha
{"title":"Perfusion characterization of osteosarcoma spinal metastases using advanced T1-weighted dynamic contrast enhanced MRI.","authors":"Michelle Kwon, Onur Yildirim, Kyung K Peck, Michael Starc, Julio Arevalo-Perez, Eric Lis, Sasan Karimi, Andrei Holodny, Atin Saha","doi":"10.1007/s00256-026-05406-w","DOIUrl":"https://doi.org/10.1007/s00256-026-05406-w","url":null,"abstract":"<p><strong>Objective: </strong>Spinal osteosarcoma is rare and highly aggressive malignancy associated with poor clinical outcomes. To our knowledge, the perfusion MRI features of spinal osteosarcoma using T1-weighted DCE MRI, including plasma volume, permeability, and time-intensity analysis, have not previously been studied. In addition, changes in these features following radiation treatment have not yet been evaluated. We hypothesize that highly malignant spinal osteosarcoma demonstrates hypervascularity based on its pharmacokinetic perfusion parameters.</p><p><strong>Materials and methods: </strong>We analyzed 27 patients (mean age 44.5, SD 21.8) of untreated metastatic Spinal osteosarcoma who underwent DCE-MRI. Perfusion parameters, including K<sub>trans</sub> and plasma volume (V<sub>p</sub>) as an indicator of permeability and tumor vascularity respectively, were measured using the extended Tofts model. A subset of 12 patients underwent preradiation therapy (RT), <sup>18</sup>F-FDG PET, and 7 patients had post-RT DCE-MRI for assessment of treatment effects. Additionally, time intensity curve analysis was conducted to evaluate post-treatment changes.</p><p><strong>Results: </strong>Thirty-five lesions in 27 patients were evaluated. Perfusion characteristics including mean K<sub>trans</sub> and V<sub>p</sub> were 0.323 and 3.54, respectively, indicating that metastatic Spinal osteosarcoma is hypervascular. In the 7 patients with post-RT DCE-MRI, the mean post-RT V<sub>p</sub> decreased to 1.77 from a pre-RT mean of 3.28, reflecting a 46.04% decrease to radiation therapy.</p><p><strong>Conclusion: </strong>DCE-MRI evaluation of metastatic Spinal osteosarcoma demonstrates a rich blood supply, consistent with hypervascular metastatic disease. Changes in the time intensity curve analysis may serve as non-invasive marker of radiation treatment response.</p>","PeriodicalId":21783,"journal":{"name":"Skeletal Radiology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-20","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149224922","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}
Wanat Wudhikulprapan, Phatthawit Tangkittithaworn, Bao H Do, Allen Seo, Jason Wong, Kevin G Shea, Seth L Sherman, Robert D Boutin, Eddy D Zandee van Rilland
{"title":"Patellar maltracking with dynamic MRI: clinical feasibility and diagnostic utility.","authors":"Wanat Wudhikulprapan, Phatthawit Tangkittithaworn, Bao H Do, Allen Seo, Jason Wong, Kevin G Shea, Seth L Sherman, Robert D Boutin, Eddy D Zandee van Rilland","doi":"10.1007/s00256-026-05400-2","DOIUrl":"https://doi.org/10.1007/s00256-026-05400-2","url":null,"abstract":"<p><strong>Objective: </strong>To evaluate (1) the clinical feasibility of adding a dynamic MRI sequence during isometric quadriceps contraction to a routine knee MRI protocol and (2) the association between contraction-induced changes and clinically diagnosed patellar maltracking, including whether this information adds discriminative value beyond static imaging.</p><p><strong>Methods: </strong>This retrospective case-control study included all patellar maltracking patients (cases) and healthy volunteers (controls) undergoing knee MRI supplemented with dynamic series at a single tertiary referral center between 2021 and 2025. Exclusion criteria included prior knee surgery, severe imaging artifacts, or incomplete exams. Image quality, adverse events, and acquisition data were collected. Two musculoskeletal radiologists independently performed patellofemoral measurements on the static and dynamic series. Statistical analysis included t-tests, age/sex-adjusted regression, ICC(2,1) for reliability, and AUC/DeLong analysis for incremental diagnostic value.</p><p><strong>Results: </strong>One hundred thirteen patients and 20 controls underwent knee MRI with dynamic series. Image quality was rated \"good\" or \"excellent\" in 128/133 (96.2%) subjects. No protocol-related adverse events were recorded. In both cohorts, patellar height, lateral translation, and tilt were greater on dynamic than static series (p < 0.05). There was a larger increase in TT-TG distance between static and dynamic images in patients with patellar maltracking compared to controls (4.35 mm vs 1.58 mm, p = 0.003). Inter-reader ICC(2,1) estimates ranged from 0.36 (95% CI, 0.20-0.50) to 0.93 (95% CI, 0.91-0.95).</p><p><strong>Conclusion: </strong>The supplementary dynamic MRI sequence performed during quadriceps contraction is clinically feasible. The contraction-induced increase in TT-TG distance was greater in maltracking patients than controls, though its incremental value beyond static imaging was not statistically confirmed in this sample.</p>","PeriodicalId":21783,"journal":{"name":"Skeletal Radiology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149224925","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}
{"title":"S1 radiculopathy presenting as progressive unilateral calf hypertrophy.","authors":"Juan Pablo Muñoz, Solange Escobedo","doi":"10.1007/s00256-026-05401-1","DOIUrl":"https://doi.org/10.1007/s00256-026-05401-1","url":null,"abstract":"<p><p>Progressive unilateral calf enlargement is more commonly attributed to vascular, inflammatory, neoplastic, or lymphatic disease than to chronic denervation. We report a 55-year-old female recreational runner with progressive right calf enlargement and long-standing mild low back pain. Lumbar MRI demonstrated multilevel disc herniations, including a right-sided L5-S1 extrusion with compression of the right S1 nerve root. During the initial phase of calf symptoms, calf MRI showed mild asymmetric enlargement of the right posterior compartment with edema-like signal on fluid-sensitive sequences. At later-stage evaluation, 16 months after the initial calf MRI, ultrasound and follow-up calf MRI demonstrated significant interval progression to marked asymmetric enlargement of the right posterior compartment, predominantly involving the medial gastrocnemius and soleus; at a comparable anatomic level, the right soleus cross-sectional area had increased by approximately 58% relative to the prior calf MRI. Ultrasound showed mildly increased echogenicity with preserved fibrillar architecture, without increased color Doppler flow, focal mass, or architectural distortion. MRI confirmed preserved muscle architecture and absence of fatty replacement, consistent with true muscle hypertrophy rather than fatty pseudohypertrophy. Electromyography confirmed chronic right S1 radiculopathy. This case highlights that chronic S1 radiculopathy may present as progressive true calf hypertrophy without fatty replacement and that unilateral calf muscle enlargement with preserved architecture should prompt correlation with lumbar spine MRI and electrodiagnostic findings.</p>","PeriodicalId":21783,"journal":{"name":"Skeletal Radiology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149224857","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}
{"title":"Ganglioneuroma of the sacral canal: an unusual location with MR imaging findings.","authors":"Sekyoung Park, Sun-Ju Oh, So Hak Chung","doi":"10.1007/s00256-026-05394-x","DOIUrl":"10.1007/s00256-026-05394-x","url":null,"abstract":"<p><p>Ganglioneuroma is a rare, benign, slow-growing tumor arising from embryonic neural crest cells that differentiate into the sympathetic ganglia. Accordingly, it can occur anywhere along the sympathetic chain, from the clivus to the sacrum, although it is seen most commonly in the mediastinum, retroperitoneum, adrenal glands, and neck. Although involvement at the sacral level is uncommon, ganglioneuroma typically arises from the anterior surface of the sacrum, with presacral lesions occasionally extending through the sacral foramina into the sacral canal. Only two cases of ganglioneuroma confined to the sacral canal without presacral involvement have been reported in the literature, to the best our knowledge. On magnetic resonance imaging, ganglioneuroma usually demonstrates a low signal intensity on T1-weighted images, heterogeneous high signal intensity on T2-weighted images, and variable enhancement patterns. We report a case of sacral canal ganglioneuroma in a 72-year-old woman presenting with a fluid level which is a previously unreported imaging feature, to the best of our knowledge. The unusual patient age, location, and imaging characteristics of this patient's ganglioneuroma posed a diagnostic challenge. We also review previously reported cases of sacral canal ganglioneuroma and highlight the radiologic features, with particular emphasis on the presence of a fluid level.</p>","PeriodicalId":21783,"journal":{"name":"Skeletal Radiology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149224908","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}
Marianne T Luetmer, Sherief Ghozy, Omar Fayez, Seyed Behnam Jazayeri, David F Kallmes, Christin A Tiegs-Heiden
{"title":"Imaging findings of sacroiliac joint degeneration are prevalent in asymptomatic adults: a systemic review and meta-analysis.","authors":"Marianne T Luetmer, Sherief Ghozy, Omar Fayez, Seyed Behnam Jazayeri, David F Kallmes, Christin A Tiegs-Heiden","doi":"10.1007/s00256-026-05386-x","DOIUrl":"https://doi.org/10.1007/s00256-026-05386-x","url":null,"abstract":"<p><strong>Objective: </strong>The purpose of this study is to determine the prevalence of imaging findings of sacroiliac joint (SIJ) degeneration in asymptomatic adults.</p><p><strong>Materials and methods: </strong>All studies reporting the prevalence of cross-sectional imaging findings of SIJ degeneration in asymptomatic adults through May 2026 were included. Pooled prevalence and 95% confidence intervals were calculated using a random-effects model. Heterogeneity was assessed with I<sup>2</sup> and Cochran's Q. Age and sex subgroup analyses were performed.</p><p><strong>Results: </strong>Seventeen studies (3873 patients) were included. Any feature of degeneration was observed in 71.1% of patients (95% CI [25.8, 94.6]) with significant heterogeneity among studies (I<sup>2</sup> = 96%, p < .01). Osteophyte formation was most prevalent (68.4%; 95% CI [37.5, 88.7], I<sup>2</sup> = 92%), followed by joint space narrowing (45.2%; 95% CI [9.8, 86.3], I<sup>2</sup> = 99%), subchondral sclerosis (39.1%; 95% CI [11.7, 75.7], I<sup>2</sup> = 96%), vacuum phenomenon (14.3%; 95% CI [6.4, 28.7], I<sup>2</sup> = 94%), subchondral cyst formation (5.5%; 95% CI [3.0, 9.9], I<sup>2</sup> = 59%), erosions (5.0%; 95% CI [2.1, 11.2], I<sup>2</sup> = 86%), and joint ankylosis (2.8%; 95% CI [1.2, 6.5], I<sup>2</sup> = 66%). There was a correlation between age and osteophytosis, subchondral sclerosis, and vacuum phenomenon.</p><p><strong>Conclusion: </strong>Our study reveals a high prevalence of imaging findings related to SIJ degeneration in asymptomatic adults, which may have a connection with age in several findings. These findings emphasize the importance of correlating imaging with clinical symptoms and physical examination findings in the evaluation of low back pain. Findings should be interpreted with caution because confidence intervals were wide and between-study heterogeneity was high, reflecting differences in imaging modality, lesion definitions, and patient categorization.</p>","PeriodicalId":21783,"journal":{"name":"Skeletal Radiology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149215740","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}
{"title":"IgG4-related disease of the pelvic floor musculature mimicking neoplasm: a case report with imaging-pathologic correlation.","authors":"Jaclyn Lundberg, Syed T Hoda, Iman Khodarahmi","doi":"10.1007/s00256-026-05395-w","DOIUrl":"https://doi.org/10.1007/s00256-026-05395-w","url":null,"abstract":"<p><p>IgG4-related disease (IgG4-RD) is an immune-mediated fibroinflammatory condition that can form tumefactive mass-like lesions and mimic malignancy across organ systems. We describe a rare presentation involving the deep pelvic floor musculature with imaging-pathologic correlation while underscoring diagnostic pitfalls. A 49-year-old man with a history of systemic lupus erythematosus, night sweats, and left lower quadrant abdominal pain underwent CT of the abdomen and pelvis, which demonstrated a right posterior pelvic sidewall mass and retroperitoneal lymphadenopathy. Pelvic MRI demonstrated an ill-defined intramuscular mass centered in the right iliococcygeus and pubococcygeus muscles. Relative to skeletal muscle, the lesion demonstrated iso- to low T1 signal intensity, intermediate T2 signal intensity, restricted diffusion, and moderate, diffuse contrast enhancement, raising concern for neoplasm or an inflammatory process. Image-guided biopsy revealed fibrotic soft tissue with severe lymphoplasmacytic infiltrate and increased IgG4-reactive plasma cells. The IgG4+/IgG+ plasma cell ratio was > 75%, consistent with IgG4-RD when integrated with the clinical, laboratory, imaging and pathologic findings. IgG4-related disease with mass-like involvement of the pelvic floor musculature has not, to the best of our knowledge, been previously reported in the English literature. This entity can present as an ill-defined, enhancing, diffusion-restricting intramuscular mass and therefore may mimic a neoplastic process.</p>","PeriodicalId":21783,"journal":{"name":"Skeletal Radiology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149196879","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}
Tina Shiang, Ged G Wieschhoff, Jim S Wu, Jacob C Mandell
{"title":"CT-fluoroscopy-guided lumbar epidural steroid injections: trainee participation, radiation dose, and procedural time.","authors":"Tina Shiang, Ged G Wieschhoff, Jim S Wu, Jacob C Mandell","doi":"10.1007/s00256-026-05408-8","DOIUrl":"https://doi.org/10.1007/s00256-026-05408-8","url":null,"abstract":"<p><strong>Objective: </strong>Compare patient radiation, procedure time, and immediate post-procedural pain relief for CT-fluoroscopy (CTF)-guided lumbar epidural steroid injections (ESIs) performed by attendings alone versus with trainee participation.</p><p><strong>Materials and methods: </strong>This retrospective single-institution study analyzed 371 consecutive CTF-guided lumbar ESIs (2018-2025) performed by attendings (n = 93) or by trainees under direct attending supervision (n = 278). Patient and procedural characteristics and outcomes were compared using Welch t-tests and chi-squared tests. Total dose length product (DLP) was separated into planning-scan and procedural components. Linear mixed-effects models were adjusted for age, sex, injection approach, planning CT omission, and academic year, with a random intercept for supervising attending.</p><p><strong>Results: </strong>Total DLP was higher for trainee injections (53.7 ± 52.0 vs 31.7 ± 40.6 mGy∙cm, p < 0.001), driven by the planning CT (37.7 ± 47.3 vs 16.4 ± 32.2 p < 0.001); procedural DLP was similar (15.6 ± 10.3 vs 15.3 ± 11.9 mGy∙cm, p = 0.83). After adjustment, trainee participation was not associated with total or procedural DLP (geometric mean ratio 0.99 for both; 95% CIs 0.81-1.21 and 0.84-1.17). Proceduralist group explained 7% of total DLP variance; planning CT omission and supervising attending added 38% and 10%, respectively. Planning CT omission, practiced by two of seven attendings, declined from 53% of procedures in 2019-2020 to none after 2022. Trainee procedures took longer (20.0 ± 6.3 vs 18.3 ± 4.2, p = 0.005). Immediate pain reduction was similar (3.5 ± 2.9 vs 3.4 ± 2.6 points, p = 0.81).</p><p><strong>Conclusion: </strong>Trainee participation in CTF-guided lumbar ESIs was associated with modestly longer procedures but not increased procedural radiation. Higher total radiation with trainees reflected increasing use of planning CT and attending practice variation rather than trainee performance.</p>","PeriodicalId":21783,"journal":{"name":"Skeletal Radiology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149196821","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}
Mengyao Guo, Run Xu, Zeyang Miao, Peng Luo, Guanwu Li
{"title":"AI-enhanced routine CT for opportunistic osteoporosis screening and risk assessment.","authors":"Mengyao Guo, Run Xu, Zeyang Miao, Peng Luo, Guanwu Li","doi":"10.1007/s00256-026-05403-z","DOIUrl":"https://doi.org/10.1007/s00256-026-05403-z","url":null,"abstract":"<p><p>Osteoporosis-related fractures create a large and often preventable burden, yet many individuals undergoing CT for unrelated care do not receive skeletal assessment. This review evaluates artificial intelligence (AI)-enabled use of routine CT for opportunistic case-finding and risk assessment, with emphasis on the boundary between promising retrospective performance and safe clinical implementation. Automated vertebral segmentation and CT-derived bone-density estimation can reduce manual workload, and published diagnostic studies report high discrimination in selected cohorts. However, pooled estimates are heterogeneous because the reference standard, anatomical target, CT acquisition, reconstruction, contrast status, calibration method, prevalence, and validation design differ substantially across studies. These differences preclude a universal CT threshold or a universal minimum detector-row requirement; detector-row configuration should be considered together with the broader acquisition and reconstruction parameters. For implementation, AI should be deployed as a validated triage tool-not as a stand-alone diagnostic replacement for clinical assessment and indicated DXA/QCT. A credible pathway requires a defined CT-protocol eligibility check; pre-specified vertebral region of interest and exclusions; protocol- and contrast-aware quantification; scanner-specific quality assurance and calibration monitoring where applicable; external validation in representative populations; and an explicit route from an AI alert to confirmatory testing and treatment evaluation. AI may also enable concurrent vertebral-fracture and body-composition assessment, but clinical utility must be shown through downstream testing, treatment, fracture, workload, equity, and cost outcomes. The near-term priority is therefore not higher retrospective diagnostic performance alone, but reproducible, transparent, and prospectively evaluated integration into radiology workflows.</p>","PeriodicalId":21783,"journal":{"name":"Skeletal Radiology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149196797","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}
{"title":"A rare case of bilateral cuboid-navicular coalitions.","authors":"Christy Zheng, Jerry Zhang, F Joseph Simeone","doi":"10.1007/s00256-026-05399-6","DOIUrl":"https://doi.org/10.1007/s00256-026-05399-6","url":null,"abstract":"<p><p>Cuboid-navicular coalitions are an exceptionally rare form of tarsal coalitions, representing less than 1% of all tarsal coalitions. Although tarsal coalitions classically become symptomatic during adolescence, cuboid-navicular coalitions may remain clinically silent until adulthood and can present with nonspecific chronic midfoot or hindfoot pain. We present a rare case of bilateral cuboid-navicular coalitions in a 42-year-old man with progressive bilateral midfoot pain, associated degenerative hindfoot and midfoot changes, and bilateral peroneal tendon pathology. Initial management consisted of orthotics, bracing, and nonsteroidal anti-inflammatory drugs, but symptoms progressed over 8 years. Cross-sectional imaging demonstrated bilateral cuboid-navicular coalitions, progressive degenerative changes, and high-grade right peroneus longus tear. The patient underwent excision of the right cuboid-navicular coalition, excision of the right lateral calcaneal tubercle with inferior peroneal retinacular release, and debridement and repair of the right peroneus longus and brevis tendons. This case highlights the importance of considering rare tarsal coalitions in adults with chronic nonspecific midfoot pain and emphasizes the value of MRI and CT for diagnosis, characterization of associated pathology, and operative planning.</p>","PeriodicalId":21783,"journal":{"name":"Skeletal Radiology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-14","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184345","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}
{"title":"A case report of pediatric Gardner syndrome and literature review.","authors":"Meitao Liu, Siping He","doi":"10.1007/s00256-026-05390-1","DOIUrl":"https://doi.org/10.1007/s00256-026-05390-1","url":null,"abstract":"<p><p>This case report discusses the diagnosis and treatment of a 14-year-8-month-old male patient genetically diagnosed with Gardner syndrome (GS), systematically reviewing the disease's epidemiology, clinical manifestations, imaging advances, and management strategies. The patient presented with a post-influenza A chest wall mass and had prior resections of abdominal/scalp masses. Colonoscopy revealed > 20 adenomatous polyps. Imaging demonstrated multiple craniofacial osteomas and epidermoid cysts. Genetic testing identified a pathogenic APC gene mutation (NM_000038.6:c.4669_4670del (p.Ile1557*) heterozygous variant). GS, a familial adenomatous polyposis (FAP) subtype, has an estimated pediatric incidence of 1/8000-1/14,000. Its classic triad comprises colorectal polyps, osteomas, and soft tissue tumors. Recent studies indicate earlier malignant transformation of duodenal polyps in children versus adults, with desmoid tumor incidence reaching 10-20%. In imaging, low-dose CT, panoramic radiography, and contrast-enhanced MRI can improve early detection of bone lesions and soft tissue tumors. Genetic testing (APC/MUTYH) is the pediatric screening gold standard. Optimized chemoprevention (sulindac/celecoxib) and endoscopic monitoring have significantly improved prognoses. This case highlights the urgency of multidisciplinary management and genetic counseling for pediatric GS.</p>","PeriodicalId":21783,"journal":{"name":"Skeletal Radiology","volume":" ","pages":""},"PeriodicalIF":2.5,"publicationDate":"2026-10-13","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"149184396","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}