When Epilepsy Takes Center Stage in Tuberous Sclerosis Complex: A Case Report from the Dermatology Hospital of Bamako

Tuberous Sclerosis Complex (TSC) is a multi-organ genetic disorder characterized by numerous hamartomas found in several organs, including the brain, heart, skin, eyes, kidneys, lungs, and liver. The responsible genes are TSC1 and TSC2, encoding hamartin and tuberin, respectively. The hamartin-tuberin complex inhibits the mammalian target of rapamycin pathway, which controls cell growth and proliferation. Variations in the distribution, number, size, and location of lesions lead to variations in the clinical syndrome, even among family members. Most features of Tuberous Sclerosis Complex become evident only in childhood, after the age of 3, limiting their usefulness for early diagnosis. Identifying patients at risk of severe manifestations is crucial. We report a case of Tuberous Sclerosis Complex inaugurated by epilepsy. It is a 10-year-old girl, a student, who came for consultation for a black spot on her left cheek evolving continuously for seven years. Two months later, this spot, asymptomatic solid lesions appeared on her face, gradually increasing in size and number. In her medical history, she has had convulsive seizures since the age of three, occurring at least five times a year, confirmed by an electroencephalogram. There is an oblong-shaped skin plaque measuring approximately 7x3 cm, erythematous, on the left cheek. Additionally, there are multiple normochromic angiofibromas affecting the nasal pyramid, nasolabial folds, and cheeks. The rest of the dermatological examination is unremarkable. The diagnosis of Tuberous Sclerosis Complex was made. In the presence or absence of cutaneous lesions, when faced with epilepsy in young children, we must always consider Tuberous Sclerosis Complex before ruling out other causes.