Year: 2025
Type: article
Study design: Case Report
Abstract: We present the case of a 23-year-old female patient who presented to the emergencydepartment of San Juan de Dios General Hospital with abdominal distension. Afterevaluation and anamnesis, a history of epilepsy, neurodevelopmental delay, and the presenceof facial angiofibromas were revealed. Imaging studies were performed, including anabdominal CT scan that revealed multiple renal angiomyolipomas. A brain CT scan wasperformed, revealing calcified subependymal nodules. It was confirmed that the patient metthe major clinical criteria established for a diagnosis of tuberous sclerosis complex, anautosomal dominant, multisystem, neurocutaneous disease characterized by hamartomatouschanges in the lungs, brain, kidneys, skin, heart, and other organs. The case presentedcorresponds to a clinical picture compatible with tuberous sclerosis complex, supported bythe presence of epilepsy and neurodevelopmental delay, facial angiofibromas, renalangiomyolipomas and calcified subependymal nodules.
DOI: 10.36109/rvsmmz24
Author: Ilse Ramirez
Language: English
Subfield: Physiology
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W4414650090
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