Case Reports in Radiology最新文献

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Congenital Toxoplasmosis With Atypical Neuroimaging: Hydrocephalus and Bilateral Chorioretinitis Without Intracranial Calcifications. 伴有不典型神经影像学的先天性弓形虫病:脑积水和双侧脉络膜视网膜炎,无颅内钙化。
Case Reports in Radiology Pub Date : 2026-04-02 eCollection Date: 2026-01-01 DOI: 10.1155/crra/3021918
Saubhagya Dhakal, Pradeep Raj Regmi, Prajwal Dhakal, Binaya Adhikari, Shashi Shekhar Shingh, Basanta Sharma Paudel
{"title":"Congenital Toxoplasmosis With Atypical Neuroimaging: Hydrocephalus and Bilateral Chorioretinitis Without Intracranial Calcifications.","authors":"Saubhagya Dhakal, Pradeep Raj Regmi, Prajwal Dhakal, Binaya Adhikari, Shashi Shekhar Shingh, Basanta Sharma Paudel","doi":"10.1155/crra/3021918","DOIUrl":"10.1155/crra/3021918","url":null,"abstract":"<p><p>We report a rare case of congenital toxoplasmosis in a 2-month-old female infant from rural Nepal, born to a primigravida mother without prenatal care. The infant presented with progressive lethargy, feeding difficulties, intermittent fever, and progressive macrocephaly. Neuroimaging revealed obstructive hydrocephalus and multiple cerebral ring-enhancing lesions without intracranial calcifications. Ophthalmologic examination demonstrated bilateral chorioretinitis. Serologic testing confirmed congenital toxoplasmosis. Despite initiation of standard therapy with pyrimethamine, sulfadiazine, and folinic acid, the infant experienced clinical deterioration prior to planned neurosurgical intervention. This case highlights the clinical and radiologic variability of congenital toxoplasmosis, the diagnostic challenges in resource-limited settings, and the importance of recognizing atypical imaging patterns to guide timely management.</p>","PeriodicalId":30326,"journal":{"name":"Case Reports in Radiology","volume":"2026 ","pages":"3021918"},"PeriodicalIF":0.0,"publicationDate":"2026-04-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC13051784/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147634538","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
Subacute Combined Degeneration Secondary to Nitrous Oxide Toxicity. 亚急性合并变性继发于氧化亚氮中毒。
Case Reports in Radiology Pub Date : 2026-03-10 eCollection Date: 2026-01-01 DOI: 10.1155/crra/9512509
George Hanna, Panagiotis Gavathas, Jerome Hanna, Mina Mousa
{"title":"Subacute Combined Degeneration Secondary to Nitrous Oxide Toxicity.","authors":"George Hanna, Panagiotis Gavathas, Jerome Hanna, Mina Mousa","doi":"10.1155/crra/9512509","DOIUrl":"10.1155/crra/9512509","url":null,"abstract":"<p><p>Subacute combined degeneration (SCD) of the spinal cord is a neurological condition caused by vitamin B12 deficiency and is most associated with cases of malabsorption, nitrous oxide exposure, or pernicious anemia. The lateral corticospinal tracts and dorsal columns are classically affected, leading to neurologic symptoms including gait disturbance, sensory deficits, and weakness. We report the case of a 35-year-old man who presented with paraesthesia and weakness of the upper and lower extremities bilaterally, along with urinary incontinence. Examination revealed a long segment of signal abnormality and enhancement involving the cervical and thoracic spinal cord, predominantly along the bilateral dorsal column. Upon further investigation, the patient reported a chronic history of recreational nitrous oxide abuse resulting in vitamin B12 deficiency inevitably leading to the development of SCD of the spinal cord.</p>","PeriodicalId":30326,"journal":{"name":"Case Reports in Radiology","volume":"2026 ","pages":"9512509"},"PeriodicalIF":0.0,"publicationDate":"2026-03-10","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12974326/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147436327","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
Unilateral Pulmonary Artery Agenesis in an Adult: A Case Report and Review of Literature. 成人单侧肺动脉发育不全1例报告及文献复习。
Case Reports in Radiology Pub Date : 2026-03-02 eCollection Date: 2026-01-01 DOI: 10.1155/crra/1565940
Madhuranjan J, Arun Karthick R
{"title":"Unilateral Pulmonary Artery Agenesis in an Adult: A Case Report and Review of Literature.","authors":"Madhuranjan J, Arun Karthick R","doi":"10.1155/crra/1565940","DOIUrl":"10.1155/crra/1565940","url":null,"abstract":"<p><strong>Background: </strong>Unilateral pulmonary artery agenesis (UPAA) is a rare congenital anomaly that may remain undiagnosed until adulthood, when patients present with exertional dyspnoea, recurrent respiratory infections, hemoptysis, or pulmonary hypertension.</p><p><strong>Case presentation: </strong>A 55-year-old female presented with exertional dyspnoea and hypoxemia. Clinical evaluation and echocardiography revealed pulmonary arterial hypertension, cor pulmonale with preserved left ventricular systolic function.</p><p><strong>Imaging findings: </strong>Chest radiography demonstrated cardiomegaly with prominent but otherwise normal hilar shadows. Computed tomography pulmonary angiography revealed complete absence of the right pulmonary artery, with the right lung supplied by extensive systemic collaterals. Diffuse mosaic attenuation was noted, reflecting chronic hypoperfusion.</p><p><strong>Management: </strong>The patient was managed conservatively with oxygen therapy and pulmonary vasodilator therapy, including ambrisentan and tadalafil, resulting in clinical stabilization.</p><p><strong>Conclusion: </strong>Unilateral pulmonary artery agenesis is a rare but important cause of pulmonary hypertension and cor pulmonale in adults. Computed tomography pulmonary angiography plays a pivotal role in diagnosis by accurately delineating vascular anatomy and collateral circulation, enabling appropriate management and prevention of complications.</p>","PeriodicalId":30326,"journal":{"name":"Case Reports in Radiology","volume":"2026 ","pages":"1565940"},"PeriodicalIF":0.0,"publicationDate":"2026-03-02","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12951536/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"147349115","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
Simultaneous Occurrence of Two Renal Artery Variations in a Single Potential Kidney Donor. 同一潜在肾脏供者同时发生两条肾动脉变异。
Case Reports in Radiology Pub Date : 2026-01-17 eCollection Date: 2026-01-01 DOI: 10.1155/crra/1016494
Ampuriire Nyakubaho, Sematimba Henry, Ssempa Phiona, Ddumba Micheal, Michael G Kawooya
{"title":"Simultaneous Occurrence of Two Renal Artery Variations in a Single Potential Kidney Donor.","authors":"Ampuriire Nyakubaho, Sematimba Henry, Ssempa Phiona, Ddumba Micheal, Michael G Kawooya","doi":"10.1155/crra/1016494","DOIUrl":"10.1155/crra/1016494","url":null,"abstract":"<p><strong>Background: </strong>Renal transplantation success depends on precise preoperative vascular mapping. This case report documents a rare instance of simultaneous dual renal artery variations in a prospective kidney donor.</p><p><strong>Procedure: </strong>A healthy 27-year-old male underwent MDCT renal angiography following standard protocols. The patient fasted for 8 h, received 80 mL of iohexol contrast at 1 mL/kg via a 20-gauge cannula, and was imaged using a 32-slice CT scanner. Scanning was performed from the descending aorta (just above the celiac trunk) to the iliac bifurcation using bolus tracking for optimal arterial enhancement.</p><p><strong>Ct findings: </strong>The CT scan demonstrated complex renal vascular anatomy. The right kidney was supplied by a main renal artery along with two accessory arteries, one originating laterally at L1 and another from the anterior aortic wall at L2. The left kidney exhibited a main renal artery with a single accessory branch arising immediately above its origin.</p><p><strong>Discussion: </strong>The embryological persistence of multiple aortic branches underlies these variations. Recognition of such anomalies is crucial as they may complicate donor nephrectomy through increased risk of intraoperative bleeding, complex vascular reconstructions, and compromised graft perfusion.</p><p><strong>Implications and recommendations: </strong>Routine use of high-resolution MDCT angiography is recommended for comprehensive donor evaluation. Enhanced interdisciplinary collaboration between radiologists and transplant surgeons is essential for tailoring surgical approaches and ensuring optimal outcomes.</p><p><strong>Conclusion: </strong>Detailed preoperative imaging is vital for identifying rare renal vascular anomalies, thereby optimizing surgical planning and promoting donor safety.</p>","PeriodicalId":30326,"journal":{"name":"Case Reports in Radiology","volume":"2026 ","pages":"1016494"},"PeriodicalIF":0.0,"publicationDate":"2026-01-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12811757/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145999258","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
Lymphadenopathy in Concurrent Head and Neck Malignancies. 并发头颈部恶性肿瘤的淋巴结病。
Case Reports in Radiology Pub Date : 2026-01-16 eCollection Date: 2026-01-01 DOI: 10.1155/crra/1544831
Timothy Fitzgerald, Ryan K Rigsby
{"title":"Lymphadenopathy in Concurrent Head and Neck Malignancies.","authors":"Timothy Fitzgerald, Ryan K Rigsby","doi":"10.1155/crra/1544831","DOIUrl":"10.1155/crra/1544831","url":null,"abstract":"<p><p>Second primary malignancies in the head and neck are a major cause of morbidity and mortality and include mucosal epithelial, hematologic, and cutaneous malignancies. Much is known about the imaging features of metastatic cervical lymphadenopathy in a single disease process; however, information on the imaging evaluation of cervical lymph nodes in the setting of multiple concurrent primary cancers is limited. Cancer multiplicity can make imaging evaluation challenging, but accurate interpretation is vital to appropriate workup and treatment. Here, we present four cases of concurrent head and neck malignancies with cervical lymphadenopathy and guidance on how to approach them with attention to lymph node location and morphologic abnormalities.</p>","PeriodicalId":30326,"journal":{"name":"Case Reports in Radiology","volume":"2026 ","pages":"1544831"},"PeriodicalIF":0.0,"publicationDate":"2026-01-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12811403/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145999184","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 Involvement in Proteus Syndrome: Clinical and Imaging Correlates in a Rare Case. 变形杆菌综合征肺部受累:一例罕见病例的临床与影像学相关。
Case Reports in Radiology Pub Date : 2026-01-08 eCollection Date: 2026-01-01 DOI: 10.1155/crra/9944074
Cody Reid Johnson, Syed Muhammad Awais Bukhari, Amit Gupta
{"title":"Pulmonary Involvement in Proteus Syndrome: Clinical and Imaging Correlates in a Rare Case.","authors":"Cody Reid Johnson, Syed Muhammad Awais Bukhari, Amit Gupta","doi":"10.1155/crra/9944074","DOIUrl":"10.1155/crra/9944074","url":null,"abstract":"<p><p>Proteus syndrome is an uncommon, sporadic disorder characterized by progressive and heterogeneous overgrowth of tissues, resulting in distorted and asymmetric development. In most individuals, Proteus syndrome has minimal to no manifestations at birth but progresses during childhood and adolescence. Clinical manifestations of the disease include isolated asymmetric hemihyperplasia, isolated asymmetric macrodactyly, subcutaneous masses, plantar and palmar cerebriform fibrous overgrowth, exostoses, epidermal nevi, and scoliosis. Cardiothoracic structures are less commonly involved, and the manifestations include cystic lung changes, pulmonary thromboembolism and varicosities, and pulmonary nodules. Patients with Proteus syndrome have an increased risk of early death due to deep venous thrombosis and pulmonary embolism. We report a case of an adult female who was diagnosed with Proteus syndrome at the age of 5 years who had multiple pulmonary manifestations of the disease.</p>","PeriodicalId":30326,"journal":{"name":"Case Reports in Radiology","volume":"2026 ","pages":"9944074"},"PeriodicalIF":0.0,"publicationDate":"2026-01-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12782245/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145953266","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
To Kill the Calyces: A Rare Case of Xanthogranulomatous Pyelonephritis Complicated by Emphysematous Pyelonephritis. 黄肉芽肿性肾盂肾炎合并肺气肿性肾盂肾炎1例。
Case Reports in Radiology Pub Date : 2025-11-21 eCollection Date: 2025-01-01 DOI: 10.1155/crra/7650184
Brandon Simons, Aaron Geril, Amir Hedayati
{"title":"To Kill the Calyces: A Rare Case of Xanthogranulomatous Pyelonephritis Complicated by Emphysematous Pyelonephritis.","authors":"Brandon Simons, Aaron Geril, Amir Hedayati","doi":"10.1155/crra/7650184","DOIUrl":"10.1155/crra/7650184","url":null,"abstract":"<p><p>Xanthogranulomatous pyelonephritis (XPN) is a rare chronic renal infection associated with obstructive nephrolithiasis and recurrent urinary tract infections. Emphysematous pyelonephritis (EPN) is an even rarer necrotizing infection characterized by intrarenal gas, most commonly seen in patients with uncontrolled diabetes mellitus. Concurrent presentation of XPN and EPN is exceedingly uncommon, with only a few cases reported. We present a case of a 61-year-old female with no history of diabetes who presented with left flank pain, systemic symptoms, and laboratory evidence of infection and microcytic anemia. Abdominal CT revealed imaging features consistent with XPN-including hydronephrosis, a staghorn calculus, and the classic \"bear paw\" sign-alongside intrarenal gas, consistent with EPN. Urine culture grew <i>Proteus mirabilis</i>. The patient underwent nephrectomy and recovered uneventfully with antimicrobial therapy. This case is notable for the rare co-occurrence of XPN and EPN in a euglycemic patient, supporting the hypothesis that chronic obstruction and infection may be sufficient to induce gas-forming infections, even in the absence of hyperglycemia. Awareness of atypical presentations is essential, as early recognition and surgical management are critical to reducing morbidity in these severe renal infections.</p>","PeriodicalId":30326,"journal":{"name":"Case Reports in Radiology","volume":"2025 ","pages":"7650184"},"PeriodicalIF":0.0,"publicationDate":"2025-11-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12662668/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145649186","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
Metastatic Merkel Cell Carcinoma Incidentally Detected on PSMA PET/CT in a Patient With Metastatic Prostate Cancer. 转移性前列腺癌患者PSMA PET/CT偶然发现转移性默克尔细胞癌
Case Reports in Radiology Pub Date : 2025-10-31 eCollection Date: 2025-01-01 DOI: 10.1155/crra/1751973
William Y Raynor, Manas Ranpariya, Jeffrey S Kempf, Biren Saraiya, Sarah A Weiss
{"title":"Metastatic Merkel Cell Carcinoma Incidentally Detected on PSMA PET/CT in a Patient With Metastatic Prostate Cancer.","authors":"William Y Raynor, Manas Ranpariya, Jeffrey S Kempf, Biren Saraiya, Sarah A Weiss","doi":"10.1155/crra/1751973","DOIUrl":"10.1155/crra/1751973","url":null,"abstract":"<p><p>Positron emission tomography (PET) radiotracers targeting prostate-specific membrane antigen (PSMA) are now widely used in the evaluation of prostate cancer. However, PSMA activity has also been described in several nonprostatic malignancies, where PSMA is primarily expressed in tumor neovasculature. Here, we describe to the best of our knowledge the first case of a PSMA-avid Merkel cell carcinoma (MCC) inguinal lymph node metastasis, detected incidentally in an 80-year-old man with advanced metastatic prostate adenocarcinoma. Clinical history and disease distribution prompted the need for a diagnostic biopsy, confirming PSMA-avid metastatic MCC. This case highlights the importance of recognizing nonprostatic causes of PSMA uptake, as synchronous malignancies can alter diagnostic interpretation and treatment planning.</p>","PeriodicalId":30326,"journal":{"name":"Case Reports in Radiology","volume":"2025 ","pages":"1751973"},"PeriodicalIF":0.0,"publicationDate":"2025-10-31","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12595225/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145483196","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
PSMA PET/CT Incidental Detection of Tumor Thrombus From Unsuspected Renal Cell Carcinoma and Comparison with FDG PET/CT. PSMA PET/CT意外发现肾细胞癌肿瘤血栓并与FDG PET/CT比较。
Case Reports in Radiology Pub Date : 2025-10-29 eCollection Date: 2025-01-01 DOI: 10.1155/crra/8358399
William Y Raynor, Stephen J Sozio, Anthony Yudd, Tina Mayer, Jeffrey S Kempf
{"title":"PSMA PET/CT Incidental Detection of Tumor Thrombus From Unsuspected Renal Cell Carcinoma and Comparison with FDG PET/CT.","authors":"William Y Raynor, Stephen J Sozio, Anthony Yudd, Tina Mayer, Jeffrey S Kempf","doi":"10.1155/crra/8358399","DOIUrl":"10.1155/crra/8358399","url":null,"abstract":"<p><p>Clear cell renal cell carcinoma (ccRCC) is typically prostate-specific membrane antigen (PSMA)-avid, likely related to PSMA expression in the tumor neovasculature, suggesting a potential role for evaluation by PSMA PET/CT. We describe a 77-year-old patient with prostate cancer who was incidentally found to have ccRCC on imaging with PSMA PET/CT, with subsequent staging by FDG PET/CT. He was diagnosed with prostate cancer 17 years prior and treated with radical prostatectomy and radiation therapy within a year of diagnosis. Biochemical recurrence with PSA of 1.0 ng/mL prompted imaging with PSMA PET/CT, which showed an unexpected finding of abnormal uptake within the right renal vein and inferior vena cava (IVC), suggesting possible tumor thrombus (SUVmax 8.8), with mild uptake corresponding to a suspected right renal mass. In addition, there was a PSMA-avid right paratracheal nodal metastasis measuring 3.3 cm (SUVmax 8.4). Subsequent FDG PET/CT again showed the renal mass, tumor thrombus (SUVmax 3.6), and only low-level uptake in the right paratracheal mass (SUVmax 2.3). Right nephrectomy was performed, confirming the presence of ccRCC in the right kidney with tumor thrombus extending to the right renal vein and IVC. FDG PET/CT restaging showed no recurrence in the nephrectomy bed and a stable FDG-avid right paratracheal mass. After stereotactic body radiation therapy (SBRT) directed to the right paratracheal mass, follow-up PSMA PET/CT showed decreased uptake (SUVmax 4.8), suggesting its usefulness for detecting and monitoring ccRCC.</p>","PeriodicalId":30326,"journal":{"name":"Case Reports in Radiology","volume":"2025 ","pages":"8358399"},"PeriodicalIF":0.0,"publicationDate":"2025-10-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12588747/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145459704","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-Onset Nonhereditary Cherubism: First Reported Case in Ghana With Review of Diagnostic and Management Challenges. 晚发性非遗传性小天使病:加纳首例病例报告,诊断和管理方面的挑战。
Case Reports in Radiology Pub Date : 2025-10-08 eCollection Date: 2025-01-01 DOI: 10.1155/crra/5333205
Seth Kwadjo Angmorterh, Mariella Mawunyo Amoussou-Gohoungo, Adam Inusah, Bridgette Palm, Kafui Kossi Kekessie, Riaan van de Venter, Sonia Aboagye, Cosmos Yarfi, John Nsor-Atindana, Portia Mamle Angmorterh, Klenam Dzefi-Tettey
{"title":"Late-Onset Nonhereditary Cherubism: First Reported Case in Ghana With Review of Diagnostic and Management Challenges.","authors":"Seth Kwadjo Angmorterh, Mariella Mawunyo Amoussou-Gohoungo, Adam Inusah, Bridgette Palm, Kafui Kossi Kekessie, Riaan van de Venter, Sonia Aboagye, Cosmos Yarfi, John Nsor-Atindana, Portia Mamle Angmorterh, Klenam Dzefi-Tettey","doi":"10.1155/crra/5333205","DOIUrl":"10.1155/crra/5333205","url":null,"abstract":"<p><strong>Background: </strong>Cherubism is a rare genetic disorder characterised by multilocular cystic lesions in the mandible and/or maxilla, which result in the typical cherub-like face. Two forms of cherubism exist-hereditary (familial) and nonhereditary (nonfamilial)-and it usually occurs amongst children aged 2-7 years. The disorder is caused by a mutation in the SH3BP2 gene on Chromosome 4p16.3, essential for jaw development. The prognosis of cherubism shows that lesions increase in size and plateau at puberty, after which the lesions begin to regress and become undetectable. We present the first case of cherubism to be reported from Ghana.</p><p><strong>Case presentation: </strong>Our case is a nonhereditary (nonfamilial) cherubism in a 21-year-old Ghanaian woman. The patient presented with bilateral asymmetrical facial swelling, jaw pain, trismus, toothache, tooth mobility and tooth loss. Also, the patient had facial disfigurement, weight loss, cough, headache, seizures and dizziness. Her family history was noncontributory. The results of a head computed tomography (CT) scan indicated chronic left sphenoid sinusitis and an enlargement of the entire mandible, with multilocular expansile lytic (soap bubble) appearance. The mandibles had ground glass matrix areas associated with subtle cortical destruction and dental deformities suggestive of Grade III cherubism.</p><p><strong>Discussion and conclusion: </strong>Our patient had the onset of the disorder at age 12 but presented to the hospital at the age of 21. The reason why our patient did not seek medical help beforehand could be attributed to sociocultural beliefs, financial constraints and/or limited access to healthcare amenities. Treatment protocols for cherubism may include observation, surgery and medical therapy. Our patient resorted to the use of traditional medicine and spiritual/religious consultations for treatment. Our patient experienced discrimination due to the disease and had lost job, friendship and romantic relationship opportunities because of cultural beliefs, stereotypes and stigmatisation. Her facial disfigurement and the deformities are associated with bad omens and negative spirits in Ghana. When diagnosed, patients suffering from cherubism must be encouraged to seek information, education and appropriate individualised evidence-based management from hospitals. Treatment of the disease should be supported with psychological counselling and community sensitisation wherever possible.</p>","PeriodicalId":30326,"journal":{"name":"Case Reports in Radiology","volume":"2025 ","pages":"5333205"},"PeriodicalIF":0.0,"publicationDate":"2025-10-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12527603/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"145309371","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
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