Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome

Silvia Masnada, Anna Pichiecchio, Manuela Formica, Filippo Arrigoni, Paola Borrelli, Patrizia Accorsi, Paolo Bonanni, Renato Borgatti, Bernardo Dalla Bernardina, Alberto Danieli, Francesca Darra, Nicolas Deconinck, Valentina De Giorgis, Olivier Dulac, Svetlana Gataullina, Lucio Giordano, Renzo Guerrini, Francesca La Briola, Massimo Mastrangelo, Martino MontomoliMarzia Mortilla, Elisa Osanni, Pasquale Parisi, Emilio Perucca, Lorenzo Pinelli, Romina Romaniello, Mariasavina Severino, Federico Vigevano, Aglaia Vignoli, Nadia Bahi-Buisson, Mara Cavallin, Andrea Accogli, Marie Burgeois, Valeria Capra, Virgine Chaves-Vischer, Luisa Chiapparini, GiovannaStefania Colafati, Stefano D'Arrigo, Isabelle Desguerre, Martine Doco-Fenzy, Giuseppe D'Orsi, Nino Epitashvili, Elisa Fazzi, Alessandro Ferretti, Elena Fiorini, Melanie Fradin, Carlo Fusco, Tiziana Granata, Katrine Marie Johannesen, Sebastien Lebon, Philippe Loget, Rikke Steensjerre Moller, Domenico Montanaro, Simona Orcesi, Chloe Quelin, Erika Rebessi, Antonino Romeo, Roberta Solazzi, Carlotta Spagnoli, Christian Uebler, Federico Zara, Alexis Arzimanoglou, Pierangelo Veggiotti, Aicardi Syndrome Int Study Grp

Research output: Contribution to journalJournal articleResearchpeer-review


Objective Aiming to detect associations between neuroradiologic and EEG evaluations and long-term clinical outcome in order to detect possible prognostic factors, a detailed clinical and neuroimaging characterization of 67 cases of Aicardi syndrome (AIC), collected through a multicenter collaboration, was performed.

Methods Only patients who satisfied Sutton diagnostic criteria were included. Clinical outcome was assessed using gross motor function, manual ability, and eating and drinking ability classification systems. Brain imaging studies and statistical analysis were reviewed.

Results Patients presented early-onset epilepsy, which evolved into drug-resistant seizures. AIC has a variable clinical course, leading to permanent disability in most cases; nevertheless, some cases presented residual motor abilities. Chorioretinal lacunae were present in 86.56% of our patients. Statistical analysis revealed correlations between MRI, EEG at onset, and clinical outcome. On brain imaging, 100% of the patients displayed corpus callosum malformations, 98% cortical dysplasia and nodular heterotopias, and 96.36% intracranial cysts (with similar rates of 2b and 2d). As well as demonstrating that posterior fossa abnormalities (found in 63.63% of cases) should also be considered a common feature in AIC, our study highlighted the presence (in 76.36%) of basal ganglia dysmorphisms (never previously reported).

Conclusion The AIC neuroradiologic phenotype consists of a complex brain malformation whose presence should be considered central to the diagnosis. Basal ganglia dysmorphisms are frequently associated. Our work underlines the importance of MRI and EEG, both for correct diagnosis and as a factor for predicting long-term outcome.

Classification of Evidence This study provides Class II evidence that for patients with AIC, specific MRI abnormalities and EEG at onset are associated with clinical outcomes.
Original languageEnglish
Issue number9
Pages (from-to)e1319-e1333
Publication statusPublished - 2. Mar 2021


  • Adolescent
  • Adult
  • Aicardi Syndrome/diagnostic imaging
  • Basal Ganglia/abnormalities
  • Brain/abnormalities
  • Child
  • Child, Preschool
  • Drinking
  • Drug Resistant Epilepsy/diagnostic imaging
  • Eating
  • Electroencephalography
  • Female
  • Humans
  • Infant
  • Magnetic Resonance Imaging
  • Motor Skills
  • Retina/diagnostic imaging
  • Retrospective Studies
  • Seizures/diagnostic imaging
  • Treatment Outcome
  • Young Adult


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