Tuberous sclerosis complex

We present the case of a 23-year-old female patient who presented to the emergency
department of San Juan de Dios General Hospital with abdominal distension. After
evaluation and anamnesis, a history of epilepsy, neurodevelopmental delay, and the presence
of facial angiofibromas were revealed. Imaging studies were performed, including an
abdominal CT scan that revealed multiple renal angiomyolipomas. A brain CT scan was
performed, revealing calcified subependymal nodules. It was confirmed that the patient met
the major clinical criteria established for a diagnosis of tuberous sclerosis complex, an
autosomal dominant, multisystem, neurocutaneous disease characterized by hamartomatous
changes in the lungs, brain, kidneys, skin, heart, and other organs. The case presented
corresponds to a clinical picture compatible with tuberous sclerosis complex, supported by
the presence of epilepsy and neurodevelopmental delay, facial angiofibromas, renal
angiomyolipomas and calcified subependymal nodules.