Literature DB >> 15255242

An atypical case of Aicardi syndrome with favorable outcome.

Seung Woo Lee1, Kwang Soo Kim, Sung Min Cho, Sun Joo Lee.   

Abstract

Aicardi syndrome is a severe congenital disorder characterized by infantile spasms, chorioretinal lacunae, and agenesis or hypogenesis of the corpus callosum. A 6 month old female had developed abnormal eye movement and seizures of the complex partial type and myoclonic type. MRI pictures of the patient revealed the presence of genu associated with agenesis of the rest of corpus callosum. A funduscopic examination revealed bilateral small, solitary, pale areas with sharp borders, some of which had minimal surrounding pigmentation (chorioretinal lacunae), especially clustered around the disc, and they were more prominent on the left side. We report here on the unusual findings of a complex partial seizure, myoclonic seizure and the atypical EEG finding in addition to the well-known characteristic clinical and imaging findings of a patient with Aicardi syndrome.

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Year:  2004        PMID: 15255242     DOI: 10.3341/kjo.2004.18.1.79

Source DB:  PubMed          Journal:  Korean J Ophthalmol        ISSN: 1011-8942


  3 in total

1.  Laterality of brain and ocular lesions in Aicardi syndrome.

Authors:  Michelle T Cabrera; Bryan J Winn; Travis Porco; Zoe Strominger; A James Barkovich; Creig S Hoyt; Mari Wakahiro; Elliott H Sherr
Journal:  Pediatr Neurol       Date:  2011-09       Impact factor: 3.372

2.  Basal Ganglia Dysmorphism in Patients With Aicardi Syndrome.

Authors:  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 Montomoli; Marzia 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
Journal:  Neurology       Date:  2020-12-04       Impact factor: 9.910

3.  Aicardi syndrome: the importance of an ophthalmologist in its diagnosis.

Authors:  Parag K Shah; V Narendran; N Kalpana
Journal:  Indian J Ophthalmol       Date:  2009 May-Jun       Impact factor: 1.848

  3 in total

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