Abstract
Aicardi syndrome is a rare neurodevelopmental disease first described in 1965 [1]. It affects almost exclusively females and is characterised by the trias: infantile spasms, partial or total agenesis of the corpus callosum and pathognomonic chorioretinal lacunae. Multiple other neurological and extraneurological signs can be helpful in the diagnosis when one of the three cardinal symptoms is missing [2, 3]. The most frequent are complex cerebral malformations, cerebral tumours, costovertebral anomalies and ocular malformations such as colobomas of the optic nerve and optic disc.
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Defoort-Dhellemmes, S., Bouvet-Drumare, I. (2014). Aicardi Syndrome. In: Puech, B., De Laey, JJ., Holder, G. (eds) Inherited Chorioretinal Dystrophies. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-540-69466-3_50
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DOI: https://doi.org/10.1007/978-3-540-69466-3_50
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