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

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
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article

Complejo de esclerosis tuberosa

I. Valencia Ramírez
Revista médica (Colegio de Médicos y Cirujanos de Guatemala)
Tuberous Sclerosis Complex Research
article

Complejo de esclerosis tuberosa

I. Valencia Ramírez
article en

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.

Revista médica (Colegio de Médicos y Cirujanos de Guatemala)Vol. 164(2)
Openalex Percentile: Top 66%
Tuberous Sclerosis Complex Research
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