Abstract:Background and AimIn Europe, rare diseases are considered the pathologies that affect fewer than 1 in 2000 persons. More than 6000 rare diseases were identified, and almost 80% of them have a genetic cause. Many rare disorders are characterised by a broad diversity of common symptoms and signs leading to misdiagnosis and delaying treatment. Aicardi syndrome is a rare disorder mainly characterised trough agenesis or dysgenesis of the corpus callosum, seizures and chorioretinal lacunae, affecting about 1 in 1 05… Show more
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