Multisystem Imaging Clues Leading to the Diagnosis of Tuberous Sclerosis Complex in Adulthood: A Case Report
Year: 2026
Type: article
Study design: Case Report
Abstract: Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder affecting multiple organ systems. While often characterized by neurocutaneous findings, renal angiomyolipomas (AMLs) are a significant source of morbidity. We present the case of a 20-year-old woman with epilepsy who presented with chest pain and was diagnosed with pulmonary thromboembolism. Imaging revealed bilateral renal AMLs, cortical-subcortical tubers, and widespread sclerotic bone foci, suggesting TSC. These were identified through contrast-enhanced thoracoabdominal computed tomography (CT) and brain magnetic resonance imaging. Eight months later, she re-presented with abdominal pain, and follow-up abdominal CT showed retroperitoneal hemorrhage and a hematoma in the left kidney, consistent with AML rupture. Pulmonary embolism as an initial manifestation is rarely reported in TSC. This case underscores the importance of recognizing TSC based on radiological findings in adulthood and highlights the need for close monitoring of AMLs. Radiology plays a key role in diagnosis and management.
Source: Medical Records
Author: Ali Şalbaş
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7132833181