A case of tuberous sclerosis complex revealed by epilepsy

Abstract

Tuberous sclerosis complex is a multisystem genetic disease with autosomal dominant inheritance, characterized by the development of benign tumors known as hamartomas that affect multiple organs. It is a condition with a wide phenotypic spectrum, and its clinical presentation varies over time within the same individual. Hence, the importance of early screening and rigorous monitoring of evolving clinical manifestations. Diagnosis can occur at any age. These tumors are generally benign, but their size and location can have a significant impact on the prognosis and, in some cases, even on life expectancy. Cardiac, neurological, and cutaneous manifestations are most common in childhood. The onset of early and severe epilepsy within the first year of life is associated with neurodevelopmental disorders that impact the quality of life for affected individuals and their families. We present a case of a 22-year-old female patient experiencing inaugural epileptic seizures in adulthood, with magnetic resonance imaging revealing subependymal hamartomas, cortical tubers and radial migration bands accompanied by polycystic kidney disease; the diagnosis of tuberous sclerosis complex was established based on the association of these lesions, which constitute major and minor criteria.

Keywords: Cortical tubers; Epilepsy; Hamartoma; Subependymal nodules; Tuberous sclerosis complex.

Fig. 1

Axial FLAIR (A) and SWI images (B) showing calcified subependymal hamartomas (arrows).

Fig. 2

Axial T2 (A) and FLAIR (B) MRI images showing cortical tubers (arrows).

Fig. 3

Axial (A) and sagittal (B) FLAIR MRI images showing radial migration bands (arrows).

Fig. 4

Polycystic kidney disease: scannographic image displaying bilateral renal cysts, some of which are spontaneously hyperdense indicating hemorrhage (A, arrows); axial T2-weighted MRI image showing the bilateral renal cysts (B).