ArticleRadiology case reports2025
Unusual case: Late diagnosis of tuberous sclerosis complex in a 59-year-old woman associated with extended fibrous dysplasia in craniofacial bones and spine.
Article in Radiology case reports, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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Abstract
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.
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