Complejo de esclerosis tuberosa
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.
Authors
- I. Valencia Ramírez
Publication Details
- Journal
- Revista médica (Colegio de Médicos y Cirujanos de Guatemala)
- Published
- 2025-09-29
- DOI
- https://doi.org/10.36109/rvsmmz24
- Primary Topic
- Tuberous Sclerosis Complex Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00