Unusual case: Late diagnosis of tuberous sclerosis complex in a 59-year-old woman associated with extended fibrous dysplasia in craniofacial bones and spine.

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Tác giả: Nathalia Sofia Coral-Rivera, Ana María Granados, María Fernanda Laverde-Reyes, Juan Camilo Márquez, Santiago Quiceno-Ramírez, Andrés Hernando Tascón-Barona

Ngôn ngữ: eng

Ký hiệu phân loại: 346.04344 Private law

Thông tin xuất bản: Netherlands : Radiology case reports , 2025

Mô tả vật lý:

Bộ sưu tập: NCBI

ID: 748476

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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