Work

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

Year: 2025

Type: article

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.

Source: Radiology Case Reports

DOI: 10.1016/j.radcr.2025.04.013

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

Institutions: Icesi University, Fundación Valle del Lili

Language: English

Topic: Tuberous Sclerosis Complex Research

Subfield: Physiology

Field: Medicine

Domain: Health Sciences

SDG: Good health and well-being

Open Access status: gold

Estimated APC paid: $600