Case report describes a 19-year-old female with learning difficulties, seizures, and skin lesions, suggesting genetic links.
A bstract Tuberous sclerosis is a genetic multisystem disorder characterized by widespread hamartomas in several organs, including the brain, heart, skin, eyes, kidneys, lungs, and liver. The affected genes are TSC1 and TSC2 , encoding hamartin and tuberin, respectively. Most features of tuberous sclerosis become evident only in childhood, limiting their usefulness for an early diagnosis. We report the case of a 19-year-old female patient with difficulty in learning since childhood, a history of seizures, and multiple skin lesions (adenoma sebaceum) all over her face with thickened patches (shagreen patches) on her back.
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Choudhury et al. (2026) studied this question.
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