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.

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Publication Details

Journal
Radiology Case Reports
Published
2025-05-01
DOI
https://doi.org/10.1016/j.radcr.2025.04.013
Primary Topic
Tuberous Sclerosis Complex Research
Type
article
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article

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

Juan Camilo Márquez, María Fernanda Laverde-Reyes, Ana María Granados, Nathalia Sofia Coral-Rivera et al.
Radiology Case Reports
Tuberous Sclerosis Complex Research
article

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

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

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.

Radiology Case ReportsVol. 20(7)
Fundación Valle del Lili (CO), Icesi University (CO)
Gender equality
Openalex Percentile: Top 88%
Tuberous Sclerosis Complex Research
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Unusual case: Late diagnosis of tuberous sclerosis complex in a 59-year-old woman associated with extended fibrous dysplasia in craniofacial bones and spine — Juan Camilo Márquez, María Fernanda Laverde-Reyes, et al. · Radiology Case Reports (2025) | TGRS Research Map | TGRS