María Fernanda Laverde-Reyes , Santiago Quiceno-Ramírez , Nathalia Sofia Coral-Rivera , Andrés Hernando Tascón-Barona , Ana María Granados , Juan Camilo Márquez
{"title":"罕见病例:59岁女性晚期诊断结节性硬化症并发颅面骨和脊柱延伸纤维发育不良","authors":"María Fernanda Laverde-Reyes , Santiago Quiceno-Ramírez , Nathalia Sofia Coral-Rivera , Andrés Hernando Tascón-Barona , Ana María Granados , Juan Camilo Márquez","doi":"10.1016/j.radcr.2025.04.013","DOIUrl":null,"url":null,"abstract":"<div><div>Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multiple tumors originating from the embryonic ectoderm, commonly affecting the brain, kidneys, and heart. We report the case of a 59-year-old woman with a lifelong history of epilepsy and cognitive decline, who was diagnosed with TSC and fibrous dysplasia (FD) after presenting with headache, dizziness, and balance disturbances. Imaging studies revealed a subependymal giant cell astrocytoma (SEGA) and craniofacial FD, leading to ventriculoperitoneal shunting and tumor resection. This case highlights the rare coexistence of TSC and FD, suggesting the need to consider FD as a potential skeletal manifestation of TSC, especially in atypical presentations or late diagnoses.</div></div>","PeriodicalId":53472,"journal":{"name":"Radiology Case Reports","volume":"20 7","pages":"Pages 3459-3464"},"PeriodicalIF":0.0000,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Unusual case: Late diagnosis of tuberous sclerosis complex in a 59-year-old woman associated with extended fibrous dysplasia in craniofacial bones and spine\",\"authors\":\"María Fernanda Laverde-Reyes , Santiago Quiceno-Ramírez , Nathalia Sofia Coral-Rivera , Andrés Hernando Tascón-Barona , Ana María Granados , Juan Camilo Márquez\",\"doi\":\"10.1016/j.radcr.2025.04.013\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<div><div>Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multiple tumors originating from the embryonic ectoderm, commonly affecting the brain, kidneys, and heart. We report the case of a 59-year-old woman with a lifelong history of epilepsy and cognitive decline, who was diagnosed with TSC and fibrous dysplasia (FD) after presenting with headache, dizziness, and balance disturbances. Imaging studies revealed a subependymal giant cell astrocytoma (SEGA) and craniofacial FD, leading to ventriculoperitoneal shunting and tumor resection. This case highlights the rare coexistence of TSC and FD, suggesting the need to consider FD as a potential skeletal manifestation of TSC, especially in atypical presentations or late diagnoses.</div></div>\",\"PeriodicalId\":53472,\"journal\":{\"name\":\"Radiology Case Reports\",\"volume\":\"20 7\",\"pages\":\"Pages 3459-3464\"},\"PeriodicalIF\":0.0000,\"publicationDate\":\"2025-05-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Radiology Case Reports\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://www.sciencedirect.com/science/article/pii/S1930043325003048\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"\",\"PubModel\":\"\",\"JCR\":\"Q4\",\"JCRName\":\"Medicine\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Radiology Case Reports","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S1930043325003048","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q4","JCRName":"Medicine","Score":null,"Total":0}
Unusual case: Late diagnosis of tuberous sclerosis complex in a 59-year-old woman associated with extended fibrous dysplasia in craniofacial bones and spine
Tuberous sclerosis complex (TSC) is a neurocutaneous disorder characterized by multiple tumors originating from the embryonic ectoderm, commonly affecting the brain, kidneys, and heart. We report the case of a 59-year-old woman with a lifelong history of epilepsy and cognitive decline, who was diagnosed with TSC and fibrous dysplasia (FD) after presenting with headache, dizziness, and balance disturbances. Imaging studies revealed a subependymal giant cell astrocytoma (SEGA) and craniofacial FD, leading to ventriculoperitoneal shunting and tumor resection. This case highlights the rare coexistence of TSC and FD, suggesting the need to consider FD as a potential skeletal manifestation of TSC, especially in atypical presentations or late diagnoses.
期刊介绍:
The content of this journal is exclusively case reports that feature diagnostic imaging. Categories in which case reports can be placed include the musculoskeletal system, spine, central nervous system, head and neck, cardiovascular, chest, gastrointestinal, genitourinary, multisystem, pediatric, emergency, women''s imaging, oncologic, normal variants, medical devices, foreign bodies, interventional radiology, nuclear medicine, molecular imaging, ultrasonography, imaging artifacts, forensic, anthropological, and medical-legal. Articles must be well-documented and include a review of the appropriate literature.