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  • Title: [Neuro-encephalic features of tuberous sclerosis complex].
    Author: Belfquih H, El Mostarchid B, Akhaddar A, Gazzaz M, Boucetta M.
    Journal: Rev Med Interne; 2012 Aug; 33(8):433-8. PubMed ID: 22658530.
    Abstract:
    Tuberous sclerosis is a phacomatosis resulting from an autosomal dominant inheritance. It is characterized by the presence of multiple hamartomas in various organs, especially the brain, the skin, the kidneys and the heart. The diagnosis of tuberous sclerosis is based on imaging and clinical examination, where magnetic resonance imaging constitutes the key investigation showing characteristic brain lesions. Neuro-encephalic manifestations may be particularly severe, and may even be life threatening. The authors report personal cases series and review the literature highlighting epidemiology, clinical features and imaging of neuro-encephalic tuberous sclerosis.
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