A case of tuberous sclerosis complex revealed by epilepsy.

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.

Hyperphosphatemic familial tumoral calcinosis mimicking a cystic hemo-lymphangioma on MRI.

A tumoral calcinosis is a rare benign pathology characterized by calcium deposits (calcium phosphate crystals) in the periarticular soft tissues, giving a truly pseudotumor appearance. The same patients with tumoral calcinosis may have manifestation of hyperostosis hyperphosphatemia syndrome. The association is called Hyperphosphatemic familial tumoral calcinosis which is the case with our patient. We present a unique case of a 10-year-old female child without any notable history. No notion of consanguinity, a non-painful swelling of the right elbow for the last 3 years. She was presented with tumoral calcinosis in the context of familial hyperphosphatemic calcinosis tumor in which the diagnosis of lymphangioma was evoked and then redressed.